MedWorm: Amniocentesis

Prenatal diagnosis for haemophilia: a nationwide survey among female carriers in the Netherlands

Haemophilia — Wed, 18 Jan 2012 05:00:00 +0100

Summary. Carriers of haemophilia face difficult choices regarding prenatal diagnosis, but little is known about the determinants that influence their decisions. The aim of this study was to assess the incidence of prenatal diagnosis and potential determinants affecting the choice for prenatal diagnosis. A nationwide survey was performed among all women who underwent carriership testing for haemophilia in the Netherlands between 1992 and 2004. Prenatal diagnosis was assessed in 207 carriers of haemophilia A or B who had been pregnant. Prenatal diagnosis was categorized into early first trimester (Y‐PCR testing or chorionic villus sampling) often intended to prevent the birth of a child with haemophilia, and into late prenatal diagnosis (amniocentesis or ultrasound assessment) aimed at ...

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[Retrospective study of risk factors of vertical transmission of hepatitis C virus.]

Anales de Pediatria — Wed, 18 Jan 2012 05:00:00 +0100

CONCLUSIONS: The effect of viremia on the risk of transmission is not clearly established, despite the importance usually attributed. Lack of viremia does not discount the risk of transmission, due to viral RNA detection can be intermittent, so it should be interpreted cautiously. Immunosuppression secondary to HIV co-infection implies a higher risk of transmission, but this effect decreases by improving immune competence by antiretroviral treatment. With regard to the birth characteristics, time after the rupture of membranes has not shown being a risk factor; being the caesarean not advisable as a good alternative to finish the pregnancy. Breastfeeding does not increase the risk, even it can be protective. This results would be justified by the low viral content of milk, its inactivation...

Outcome of twin pregnancies after amniocentesis

Journal of Obstetrics and Gynaecology Research — Tue, 10 Jan 2012 05:00:00 +0100

Conclusion: Our cohort showed a low fetal loss rate after amniocentesis for uncomplicated twin pregnancies. (Source: Journal of Obstetrics and Gynaecology Research)

Similar risk for hemangiomas after amniocentesis and transabdominal chorionic villus sampling

Journal of Obstetrics and Gynaecology Research — Tue, 10 Jan 2012 05:00:00 +0100

Conclusion: These results suggest that TA‐CVS does not cause an increase in the prevalence of hemangioma compared to amniocentesis. A larger series is, however, necessary to confirm this. (Source: Journal of Obstetrics and Gynaecology Research)

Amniotic fluid stem cell-based models to study the effects of gene mutations and toxicants on male germ cell formation.

Asian Journal of Andrology — Mon, 09 Jan 2012 05:00:00 +0100

Authors: Gundacker C, Dolznig H, Mikula M, Rosner M, Brandau O, Hengstschläger M Abstract Male infertility is a major public health issue predominantly caused by defects in germ cell development. In the past, studies on the genetic regulation of spermatogenesis as well as on negative environmental impacts have been hampered by the fact that human germ cell development is intractable to direct analysis in vivo. Compared with model organisms including mice, there are fundamental differences in the molecular processes of human germ cell development. Therefore, an in vitro model mimicking human sperm formation would be an extremely valuable research tool. In the recent past, both human embryonic stem (ES) cells and induced pluripotent stem (iPS) cells have been reported to harbour the...

Aria Diagnostics Emerges From Stealth With New Blood-Based Prenatal Test

Forbes.com Healthcare News — Sat, 07 Jan 2012 00:38:58 +0100

If you’re thinking about getting pregnant or know someone who is, take note: A blood sample from a pregnant mother and a new DNA test from a company called Aria Diagnostics may eliminate the need for invasive prenatal tests like amniocentesis for a number of women. (Source: Forbes.com Healthcare News)

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Prenatal diagnosis: Types and techniques

Early Human Development — Mon, 26 Dec 2011 10:48:08 +0100

Abstract: Up to 3% of UK pregnancies will be affected by congenital abnormality. Prenatal diagnosis allows the parents to make informed decisions about their pregnancy, healthcare professionals to optimise the antenatal care and families prepare for the birth of the baby. There are many techniques employed which range from the non-invasive ultrasonography to the highly invasive amniocentesis. This review explores the methods currently available in the UK as well as considering the newer minimally-invasive technologies available including cell-free fetal DNA and pre-implantation genetic diagnosis. (Source: Early Human Development)

[The role of infection in preterm birth.]

Journal de Gynecologie, Obstetrique et Biologie de la Reproduction — Tue, 20 Dec 2011 05:00:00 +0100

Authors: Petit E, Abergel A, Dedet B, Subtil D Abstract Intrauterine infection could be responsible for 25% up to 40% of preterm births. This relationship was initially demonstrated using animal models, inducing their abortion by injecting bacteria or endotoxins. In human research, examination of amniocentesis fluid showed the anteriority of infection over labor induction, and the existence of a subclinical latency phase between these two phenomena. The ascending route is preponderant, and four stages can be distinguished: cervical and vaginal infection, chorio-decidual infection, intra-amniotic infection, fetal infection. The intrauterine infection is very frequent in case of early preterm birth (<30WG). It is associated with an increase of neurological and pulmonary morbidity....

Prenatal diagnosis of xeroderma pigmentosum group A in Japan

The Journal of Dermatology — Wed, 14 Dec 2011 05:00:00 +0100

AbstractWe performed a prenatal diagnosis for 10 fetuses from nine unrelated Japanese xeroderma pigmentosum complementation group A (XP‐A) families. All parents had at least one XP‐A child (proband) with a homozygous founder mutation (IVS3‐1G>C) in the XPA gene. A genetic analysis was performed by a restriction enzyme; AlwNI fragment length polymorphism of polymerase chain reaction (PCR)‐amplified DNA, mostly from amniotic fluid (AF) and cultured cells established from AF. However, for the first family, we tried amniocentesis as well as chorionic villus sampling (CVS). Among the 10 cases, we confirmed the results of PCR‐based genetic diagnosis by post‐ultraviolet survival of amniotic cells in eight cases. Unfortunately, 6 weeks after CVS and 4 days after the amniocentesi...

Amniocentesis Performed for Karyotyping after Identified Ultrasonographic Abnormalities: What to Expect

Fetal Diagnosis and Therapy — Mon, 12 Dec 2011 23:00:00 +0100

Fetal Diagn Ther (DOI:10.1159/000330373) (Source: Fetal Diagnosis and Therapy)

Sex Selection Game-Changer? New Fetal Gene Test Reveals Sex at 7 Weeks

Psychology Today Parenting Center — Mon, 12 Dec 2011 18:25:34 +0100

New non-invasive prenatal testing will enable parents to know a fetus's sex, Down's status, and possibly other traits dramatically earlier in a pregnancy. Primary Topic: Parenting read more (Source: Psychology Today Parenting Center)

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Fetal Anterior Wall Thickness and Amniotic Fluid Insulin Levels: an Interdependence?

Ultraschall in der Medizin — Fri, 09 Dec 2011 05:00:00 +0100

CONCLUSION: In the early third trimester, AAWT measurements do not correlate with fetal insulin levels. PMID: 22161616 [PubMed - as supplied by publisher] (Source: Ultraschall in der Medizin)

Cortisol and anxiety response to a relaxing intervention on pregnant women awaiting amniocentesis

Psychoneuroendocrinology — Fri, 09 Dec 2011 03:39:07 +0100

Summary: Background: Stress and anxiety during pregnancy have been associated with premature and low birth weight babies, presumably through fetus over exposion to glucocorticoids. Antenatal stress also seems to have long-term effects upon infant development and adult health. However, medication for stress may carry risks to the expectant mother, therefore the efficacy of non-pharmacological interventions should be investigated.Methods: Pregnant women (n=154) awaiting amniocentesis, were randomly assigned in the morning and the afternoon to three groups for 30min: (1) listening to relaxing music, (2) sitting and reading magazines, and (3) sitting in the waiting-room. Before and after that period, they completed the Spielberger's State and Trait anxiety inventory and provided blood samples ...

When are amniotic fluid viral PCR studies indicated in prenatal diagnosis?

Prenatal Diagnosis — Thu, 01 Dec 2011 05:00:00 +0100

ConclusionAmniotic fluid viral PCR testing should be considered for fetuses with intrauterine growth restriction, nonimmune hydrops fetalis, hand/foot anomalies, or NTDs. After aneuploidy is excluded, NTDs are associated with PCR positivity. © 2012 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Pregnancy Loss after Chorionic Villus Sampling and Genetic Amniocentesis in Twin Pregnancies‐ a Systematic Review

Ultrasound in Obstetrics and Gynecology — Mon, 28 Nov 2011 05:00:00 +0100

AbstractObjective:To review the available evidence regarding pregnancy loss following first trimester chorionic villus sampling (CVS) and mid‐trimester genetic amniocentesis in twins.Methods:We searched the MEDLINE database from Jan 1990 to May 2011 for randomized and the cohort studies reporting on the risk of pregnancy loss after first trimester CVS performed between 9‐14 weeks and genetic amniocentesis between 14‐22 weeks. Where appropriate, we have calculated pooled proportions and relative risks with 95% confidence intervals.Results:No randomized studies were found. For CVS, nine studies fulfilled the inclusion criteria. The overall pregnancy loss rate was 3.84% (CI95 2.48% to 5.47%; n = 4). The rate of pregnancy loss before 20 weeks was 2.75% (CI951.28% to 4.75%; n = 3) and bef...

Umbilical Cord Hernias: Prenatal Diagnosis and Natural History

Journal of Ultrasound in Medicine — Mon, 28 Nov 2011 05:00:00 +0100

Conclusions— Despite 1 case complicated by intrauterine fetal death in this study, the outcome of an isolated fetal umbilical hernia seems favorable. (Source: Journal of Ultrasound in Medicine)

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Pregnancy Loss after Chorionic Villus Sampling and Genetic Amniocentesis in Twin Pregnancies- a Systematic Review.

The Ultrasound Review of Obstetrics and Gynecology — Mon, 28 Nov 2011 05:00:00 +0100

Authors: Agarwal K, Alfirevic Z Abstract OBJECTIVE: To review the available evidence regarding pregnancy loss following first trimester chorionic villus sampling (CVS) and mid-trimester genetic amniocentesis in twins. METHODS: We searched the MEDLINE database from Jan 1990 to May 2011 for randomized and the cohort studies reporting on the risk of pregnancy loss after first trimester CVS performed between 9-14 weeks and genetic amniocentesis between 14-22 weeks. Where appropriate, we have calculated pooled proportions and relative risks with 95% confidence intervals. RESULTS: No randomized studies were found. For CVS, nine studies fulfilled the inclusion criteria. The overall pregnancy loss rate was 3.84% (CI(95) 2.48% to 5.47%; n = 4). The rate of pregnancy loss before 20 weeks was...

Prenatal diagnosis of citrin deficiency in a chinese family with a fatal proband.

The Tohoku Journal of Experimental Medicine — Tue, 22 Nov 2011 09:00:02 +0100

We report the prenatal diagnosis of CD in a family with a fatal NICCD proband. The proband was a 10-month-old male presenting cough for 8 days and jaundiced skin 1 day. Physical examination revealed fever, dark jaundiced sclera and skin, hoarse breathing sounds, and hepatosplenomegaly. Laboratory tests uncovered elevated cholestatic indices, increased ammonia, and prolonged activated partial thromboplastin time and prothrombin time, and reduced fibrinogen. Sonography showed the features of liver cirrhosis. Metabolome analysis uncovered large quantity of 4-hydroxyphenyllactate and dicarboxylates in urine and increased citrulline and methionine in blood. The patient passed away due to liver failure at his age of 13.5 months. Mutation analysis revealed him a homozygote of 851del4, a four-base...

Analgesia for amniocentesis or chorionic villus sampling.

Cochrane Database of Systematic Reviews — Sun, 20 Nov 2011 22:06:03 +0100

CONCLUSIONS: In general, women who undergo amniocentesis could be informed that pain during procedure is minor and that there is currently insufficient evidence to support the use of local anaesthetics, leg rubbing or subfreezing the needle for pain reduction during procedure. PMID: 22071854 [PubMed - in process] (Source: Cochrane Database of Systematic Reviews)

Midtrimester Intra-Amniotic Sludge and the Risk of Spontaneous Preterm Birth

American Journal of Perinatology — Thu, 17 Nov 2011 05:00:00 +0100

We examined the association between midtrimester intra-amniotic sludge and spontaneous preterm birth (PTB) in asymptomatic women undergoing amniocentesis. We performed a prospective cohort study of women having an amniocentesis for fetal karyotyping between 14 and 24 weeks’ gestation. Cervical length and the presence of amniotic sludge were assessed by transvaginal ultrasound. Amniotic fluid concentrations of matrix metalloproteinase-8, glucose and lactate were measured. Early (<32 weeks) and late (32 to 36 weeks) preterm premature rupture of membranes (PPROM) and spontaneous PTB constituted primary outcomes. Nonparametric analyses were conducted. Three hundred ten women, including 94 (30%) with free-floating echogenic particles and 16 (5%) with dense amniotic sludge, were recruited. ...

Genetic Testing for Down Syndrome: What It Can and Cannot Tell You

Psychology Today Parenting Center — Tue, 15 Nov 2011 21:29:59 +0100

Sequenom's new genetic test predicts the presence of Down syndrome at an earlier stage in pregnancy, but parents need more information to accompany the diagnosis. Primary Topic: Parenting read more (Source: Psychology Today Parenting Center)

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Children’s in the news: Brian Skotko writes Op-Ed for USA Today

Thrive, Children's Hospital Boston — Tue, 15 Nov 2011 16:44:59 +0100

Brian Skotko, MD, MPP, a physician at Children’s Hospital Boston’s Down Syndrome Program, recently wrote an Op-Ed piece for USA Today, where he addresses concerns raised by a new, easy to administer blood test that can screen for Down syndrome in-utero. In the piece, Skotko wonders what effect the simple and affordable test will have on the birth rates of children with Down syndrome and discusses his own research that shows that a majority of families living with a Down syndrome family member cite the experience as positive. In mid-October, pregnancy as we know it forever changed in America. The company Sequenom announced that with a simple blood draw at 10 weeks of gestation, a pregnant woman can now learn with near 99% accuracy whether her fetus has Down syndrome. … With these new ...

Non-medical applications of non-invasive prenatal diagnosis: Ethical issues

Forensic Science International: Genetics Supplement Series — Thu, 10 Nov 2011 05:00:00 +0100

Abstract: Non-invasive prenatal diagnosis (NIPD) is becoming increasingly important and its application in prenatal diagnosis is reaching consensus in the scientific research community. We discuss the opportunities and ethics of non-invasive prenatal testing for non-medical purposes, including forensic genetics. A number of ethical issues arise from non-medical applications of NIPD, such as sex determination and paternity testing in earlier gestational age and subsequent offspring selection. NIPD provides a source of information about the genetic make-up of the foetus, avoiding the small but significant risk of pregnancy loss related to invasive testing such as amniocentesis or chorionic villi sampling. NIPD is characterized by: safety, early detection and easy sampling. These features of ...

Congenital parasitic infections: A review.

Acta Tropica — Mon, 07 Nov 2011 05:00:00 +0100

Authors: Carlier Y, Truyens C, Deloron P, Peyron F Abstract This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and pa...

Unexplained fetal death has a biological signature of maternal anti‐fetal rejection: chronic chorioamnionitis and alloimmune anti‐human leucocyte antigen antibodies

Histopathology — Tue, 01 Nov 2011 04:00:00 +0100

Conclusions: Chronic chorioamnionitis is a common pathologic feature in unexplained preterm fetal death. This novel finding suggests that cellular and antibody‐mediated anti‐fetal rejection of the mother is associated with fetal death (graft failure) in human pregnancy. (Source: Histopathology)

Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases

Prenatal Diagnosis — Fri, 28 Oct 2011 04:00:00 +0100

ConclusionsThis study demonstrates that aCGH represents an improved diagnostic tool for prenatal detection of chromosomal abnormalities. Although larger studies are needed, our results provide further evidence on the feasibility of introducing aCGH as a first‐line diagnostic test in routine prenatal diagnosis practice. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

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Amniocentesis in twin pregnancies: a systematic review of the literature

Prenatal Diagnosis — Wed, 26 Oct 2011 04:00:00 +0100

ConclusionAnalysis of published data demonstrated a pooled amniocentesis‐related loss rate of 3.5% in twin gestations < 24 weeks. Pooled loss rates within other post‐amniocentesis intervals or other gestational age windows and the impact of chorionicity on procedure‐related loss rates cannot be determined from published data. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Parvovirus B19 infection and amniocentesis

Prenatal Diagnosis — Mon, 24 Oct 2011 05:04:11 +0100

Parvovirus B19 infection in pregnancy and amniocentesis

Prenatal Diagnosis — Mon, 24 Oct 2011 05:04:10 +0100

(Source: Prenatal Diagnosis)

Meeting patients' education and decision‐making needs for first trimester prenatal aneuploidy screening

Prenatal Diagnosis — Mon, 24 Oct 2011 04:00:00 +0100

ConclusionFirst trimester aneuploidy screening generates education and decision‐making benchmarks for patients and providers. It is important to address these barriers as this new screen becomes a growing part of current prenatal genetic testing offerings. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Prescriptions Blog: The Quandary Posed by a New Down Syndrome Test

NYT Health — Tue, 18 Oct 2011 19:04:17 +0100

Will more pregnancies be terminated if women can learn through a simple blood test if they are carrying a baby with Down syndrome? (Source: NYT Health)

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Sequenom’s Test for Down Syndrome Raises Hopes and Questions

NYT Health — Mon, 17 Oct 2011 17:29:31 +0100

While the test may reduce the need for riskier invasive procedures such as amniocentesis, it also raises ethical issues. (Source: NYT Health)

Sequanon’s Test for Down Syndrome Raises Hopes and Questions

NYT Health — Mon, 17 Oct 2011 15:40:16 +0100

While the test may reduce the need for riskier invasive procedures such as amniocentesis, it also raises ethical issues. (Source: NYT Health)

Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18

Indian Journal of Human Genetics — Mon, 17 Oct 2011 04:00:00 +0100

We present a pregnant woman with mental retardation and mosaic for ring 18 referred for prenatal diagnosis. Major clinical features included short stature with clinodactyly in feet, foot deformity and club feet, hypotonia, kyphosis, and absence of breast development, low set ears, high arched palate, dental decay and speech disorder. Prenatal diagnosis was carried. Using amniocentesis. The fetus had a normal karyotype described as 46,XX. The fetus was evaluated for clinical features after delivery; she was healthy with no abnormal clinical characterizations. (Source: Indian Journal of Human Genetics)

Early anti-angiogenic proteins expression in amniotic fluid of twin fetuses.

Twin Research and Human Genetics — Sat, 01 Oct 2011 04:00:00 +0100

Authors: Wang CN, Chen JY, Chao AS, Cheng PJ, Chang SD, Wang TH Abstract Multiple pregnancies are thought to be associated with a high incidence of perinatal complications such as preterm labor, preeclampsia and low birth weight. But the true mechanisms of these obstetric complications are still uncertain. The components of amniotic fluid reflect the pathophysiology features of the fetus. Amniotic fluid soluble fms-like tyrosine kinase 1(sFLT1), soluble endoglin (sENG), and adiponectin reflect the oxidative stress and pro-inflammatory status and are associated with preeclampsia and fetal growth restriction. We prospectively collected amniotic fluids during amniocentesis from singleton and twin pregnancies. Samples were analyzed for levels of sFLT1, sENG, and adiponectin by enzyme-l...

The prevalence and risk factors of infantile haemangiomas: a case–control study in the Dutch population

Paediatric and Perinatal Epidemiology — Tue, 20 Sep 2011 04:00:00 +0100

SummaryHoornweg MJ, Smeulders MJC, Ubbink DT, van der Horst CMAM. The prevalence and risk factors of infantile haemangiomas: a case–control study in the Dutch population. Paediatric and Perinatal Epidemiology 2011; ••:••–••.Haemangiomas are considered to be the most common tumours of infancy. However, despite their frequent occurrence the aetiological determinants of their development remain unknown. Identifying these factors may provide insight on their pathogenesis. We performed cross‐sectional screening for haemangiomas in newborns (0–16 months of age) in the general Dutch population. Haemangioma‐specific and pregnancy‐related data were collected in children with a haemangioma. These data were compared in a case–control design using multivariable logistic regre...

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Autism, language and communication in children with sex chromosome trisomies

Archives of Disease in Childhood — Mon, 12 Sep 2011 04:00:00 +0100

Conclusions Autistic features have not previously been remarked upon in studies of non-referred samples with SCTs, yet the rate is substantially above population levels in this sample, even when attention is restricted to early-identified cases. The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD. (Source: Archives of Disease in Childhood)

Pregnancy outcome in carriers of Robertsonian translocations

American Journal of Medical Genetics Part A — Fri, 09 Sep 2011 04:00:00 +0100

AbstractRobertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced offspring. Reproductive counseling of these carriers is challenging.We performed a retrospective analysis of all prenatal diagnoses from Robertsonian translocation carriers during the time period January 1, 1992 through December 31, 2007. Data on the carriers and the results of their prenatal analyses were retrieved as well as data on their previous pregnancies.We identified 28 female and 20 male carriers of Robertsonian translocations and results on 79 prenatal samples were obtained. Among female carriers, 10.3% of chorionic villus sampling and 5.9% of amniocentesis results were unbalanced, whereas for male carriers, this was 3.6% and 0%, respectively. When...

Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59Mb in 10p15.3-p14 and 4.22Mb in 10q26.3.

European Journal of Medical Genetics — Fri, 09 Sep 2011 04:00:00 +0100

We report on the prenatal diagnosis of a ring chromosome 10 in a fetus in which talipes equinovarus was incidentally found during routine obstetric ultrasound at 22 weeks of gestation. Amniocentesis was undertaken and cytogenetic analysis revealed a de novo non-mosaic apparently stable ring chromosome 10 replacing one of the two homologs. Multiplex Ligation-dependent Probe Amplification (MLPA) revealed subtelomeric deletions in both the short and long arm of chromosome 10. Analysis with high resolution micro-array based comparative genomic hybridization (array-CGH), defined the ring chromosome as del 10p15.3-p14 (12.59Mb in size) and del 10q26.3 (4.22Mb in size) and revealed the genes that are deleted. After elected termination of the pregnancy at 27th week of gestation a detailed autopsy ...

Detection of chromosomal aneuploidies in fetal cells isolated from maternal blood using single-chromosome dual-probe FISH analysis.

Clinical Genetics — Mon, 05 Sep 2011 04:00:00 +0100

Authors: Calabrese G, Baldi M, Fantasia D, Sessa MT, Kalantar M, Holzhauer C, Alunni-Fabbroni M, Palka G, Sitar G Abstract Detection of chromosomal aneuploidies using fetal cells isolated from maternal blood, for prenatal non-invasive genetic investigation, has been a long-sought goal of clinical genetics to replace amniocentesis and chorionic villous sampling to avoid any risk to the fetus. The purpose of this study was to develop a sensitive and specific new assay for diagnosing aneuploidy with circulating fetal cells isolated from maternal blood as previously reported using two novel approaches: a) simultaneous immuno-cytochemistry (ICC) evaluation using a monoclonal antibody for i-antigen, followed by fluorescence in situ hybridization (FISH); b) dual-probe FISH analysis of int...

Mosaic trisomy 17: Variable clinical and cytogenetic presentation

American Journal of Medical Genetics Part A — Mon, 15 Aug 2011 23:00:00 +0100

We present two cases of mosaic trisomy 17 diagnosed prenatally, with follow up in multiple tissues at birth. In the first case, trisomy 17 was identified in all amniocytes, and at birth standard results of chromosome analysis in peripheral blood were normal, but mosaic trisomy 17 was identified (50–75%) in skin fibroblasts by genome‐wide SNP array analysis. This patient presented with congenital heart disease, asymmetry, intestinal malrotation, and other anomalies and died on day 9 of life. In the second patient amniocentesis after ultrasound finding of tetralogy of Fallot showed mosaic trisomy 17. Postnatally, results of a SNP array were normal in blood, buccal mucosa, and skin. It is possible that the cardiac defect is related to trisomy 17 in key tissues during heart development, al...

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The quadruple test for Down syndrome screening in pregnant women of advanced maternal age

Archives of Gynecology and Obstetrics — Fri, 12 Aug 2011 06:11:20 +0100

Conclusions Under conditions in which first trimester screening test is not available, the quadruple screening test is a better choice than direct amniocentesis for pregnancies complicated by advanced maternal age. When providing genetic counseling, we need to explain the accurate detection and false-positive rates of the screening test according to maternal age. Content Type Journal ArticlePages 1-5DOI 10.1007/s00404-011-2052-1Authors Ji Young Kwon, Department of Obstetrics and Gynecology, College of Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, #505 Banpodong, Sechogu, Seoul, 137-040 KoreaIn Yang Park, Department of Obstetrics and Gynecology, College of Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, #505 Banpodo...

Predictive value of intra-amniotic and serum markers for inflammatory lesions of preterm placenta

Placenta — Fri, 12 Aug 2011 04:00:00 +0100

Abstract: Objective: To compare the relative predictive values of amniotic fluid (AF) matrix metalloproteinase-9 (MMP-9), interleukin-6 (IL-6), and serum C-reactive protein (CRP) for histologic chorioamnionitis and intra-amniotic infection in women with preterm labor or preterm premature rupture of membranes (PROM).Study design: This retrospective cohort study included 99 consecutive women with preterm labor or preterm PROM (21–35 weeks’ gestation) who delivered within 72 h of transabdominal amniocentesis. The AF was cultured for aerobic and anaerobic bacteria and for genital mycoplasmas and was assayed for MMP-9 and IL-6 levels. Maternal serum CRP was measured immediately after amniocentesis. The placentas were examined histologically.Main outcome measures: histologic chorioamnioniti...

Fetal Gender Test Determines Sex Of Fetus At 7 Weeks Gestation

Health News from Medical News Today — Tue, 09 Aug 2011 23:00:00 +0100

A non-invasive test can tell whether a 7 week fetus is a boy or girl, researchers reported in JAMA (Journal of the American Medical Association). The authors say the test may help in the early diagnosis of genetic diseases on the X chromosomes, diseases that affect males only. Doctors today usually diagnose X-linked diseases before birth via amniocentesis or chorionic villus sampling, invasive tests that raise the risk of miscarriage. The fetal gender test does not diagnose X-linked diseases... (Source: Health News from Medical News Today)

Effect of pre‐amniocentesis counseling on maternal pain and anxiety

Journal of Obstetrics and Gynaecology Research — Mon, 08 Aug 2011 23:00:00 +0100

Conclusion: Adequate pre‐amniocentesis counseling effectively reduces the actual level of pain and anxiety felt by the mother undergoing mid‐trimester amniocentesis. (Source: Journal of Obstetrics and Gynaecology Research)

Second Trimester Amniocentesis Is Not a Risk Factor for Very Low Birth Weight and Extremely Low Birth Weight

Advances in Pharmacological Sciences — Wed, 03 Aug 2011 17:18:44 +0100

Conclusions. No effect of the second trimester amniocentesis was noted on VLBW and ELBW. (Source: Advances in Pharmacological Sciences)

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Diagnosis, etiology, and outcome of fetal ascites in a South African hospital

International Journal of Gynaecology and Obstetrics — Fri, 29 Jul 2011 04:00:00 +0100

Conclusion: The cause, and therefore the prognosis, was identified in 82% of cases of fetal ascites. The prognosis for prenatally diagnosed ascites was poor; however, a few patients did well, which has important implications for genetic counseling. (Source: International Journal of Gynaecology and Obstetrics)

Non-invasive prenatal diagnosis: progress so far

Obstetrics, Gynaecology and Reproductive Medicine — Sat, 23 Jul 2011 20:18:33 +0100

The prenatal diagnosis or exclusion of aneuploidy and single gene disorders has necessitated invasive testing by chorionic villus sampling or amniocentesis. The current use of ultrasound and biochemical markers provides screening but not diagnostic testing for these conditions. The risk of procedure related miscarriage is well recognized, along with the physical discomfort and the mental anguish many couples experience when deciding whether to accept the offer of invasive testing. For these reasons, the ‘holy grail’ of prenatal diagnosis has been to find non-invasive techniques which avoid these risks and discomfort. (Source: Obstetrics, Gynaecology and Reproductive Medicine)

Adjusted risk for trisomy 21 after the anomaly scan. How accurate is the Fetal Medicine Foundation algorithm?

Archives of Gynecology and Obstetrics — Tue, 19 Jul 2011 23:23:06 +0100

Conclusions The algorithm that adjusts the age related risk of trisomy 21 according to second-trimester anomaly scan findings is very accurate in predicting the modified risk. Content Type Journal ArticlePages 1-4DOI 10.1007/s00404-011-1996-5Authors Themistoklis I. Dagklis, Iakentro Medical Center, 22 Tritonos Str, 54351 Thessaloniki, GreeceIoannis I. Kalogiannidis, Iakentro Medical Center, 22 Tritonos Str, 54351 Thessaloniki, GreeceStella M. Prapa, Iakentro Medical Center, 22 Tritonos Str, 54351 Thessaloniki, GreeceYannis M. Prapas, Iakentro Medical Center, 22 Tritonos Str, 54351 Thessaloniki, GreeceNikos M. Prapas, Iakentro Medical Center, 22 Tritonos Str, 54351 Thessaloniki, Greece Journal Archives of Gynecology and ObstetricsOnline ISSN 1432-0711Print ISSN...

Mid-trimester amniotic fluid concentrations of the proinflammatory cytokines IL-6, IL-8, TNF-α, and lipopolysaccharide binding protein in normal pregnancies: a prospective evaluation according to parity, gestational age, and fetal gender

Journal of Perinatal Medicine — Thu, 07 Jul 2011 20:53:09 +0100

Journal of Perinatal Medicine 39 (4): 403-409 Abstract Objective: To assess mid-trimester amniotic fluid concentrations of interleukin (IL)-6, IL-8, tumor necrosis factor (TNF)-α, and lipopolysaccharide binding protein (LBP) in pregnancies with normal outcome and correlate them with gestational week (GW), parity, and fetal gender. Methods: Cytokine concentrations were measured within a week of amniocentesis during GW 15+0 to 20+6 and correlated with GW at birth, parity, and fetal gender. Results: After exclusion of women with an adverse pregnancy outcome or those lost to follow-up, 273 consecutive patients were evaluated (median parity: 1; range: 0–5). Ranges for IL-6, IL-8, TNF-α, and LBP were 4.9–2620 pg/mL, 36.2–5843 pg/mL, 8.0–28.2 pg/mL, and 0.06–1.9 μg/mL, respective...

A 29-gauge atraumatic needle for amniocentesis

Journal of Perinatal Medicine — Thu, 07 Jul 2011 20:53:09 +0100

Conclusion: The hole formed by membrane perforation with 29 G “pencil-point” needle for amniocentesis is 36 times smaller, and the amniotic fluid loss is 61 times less than that measured with the 22 G standard needle for spinal anesthesia. Significant reduction of complications following amniocentesis is expected with the 29 G needle. (Source: Journal of Perinatal Medicine)

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Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings

American Journal of Medical Genetics Part A — Wed, 06 Jul 2011 23:00:00 +0100

We report on the first case of a prenatally diagnosed infant with UPD6 and describe the clinical, cytogenetic, molecular, and novel placental findings in a female infant with paternal UPD6. Low‐level trisomy 6 and paternal UPD6 were prenatally diagnosed through amniocentesis. After birth trisomy 6 was documented in the placenta but was not found in three different cell lines from the infant. The placenta was small with a peculiar pattern of vascular proliferation. Our results of trisomy 6 cells predominantly present in the placenta and only in low levels in the amniotic fluid suggest that the distribution and proportion of trisomic and diploid UPD cells contribute to the variability of fetal and placental phenotypes. © 2011 Wiley‐Liss, Inc. (Source: American Journal of Medical Genetic...

Importance of timing of gestational exposure to methotrexate for its teratogenic effects when used in setting of misdiagnosis of ectopic pregnancy

Fertility and Sterility — Mon, 04 Jul 2011 23:00:00 +0100

Conclusion(s): As medical management of ectopic pregnancy becomes more common, practitioners should be cautious about the potential teratogenic effects in unrecognized intrauterine pregnancies and be able to diagnose the myriad defects, including cardiac anomalies, that could result from such exposure. (Source: Fertility and Sterility)

Second Trimester Prenatal Screening for Down's Syndrome in Mainland Chinese Subjects using Double-Marker Analysis of α-fetoprotein and β-human Chorionic Gonadotropin Combined with Measurement of Nuchal Fold Thickness.

Annals of the Academy of Medicine, Singapore — Thu, 30 Jun 2011 23:00:00 +0100

Conclusion: Second trimester prenatal screening using double-marker analysis for AFP and β-hCG combined with measurement of NT is effective for the detection of DS in Mainland Chinese pregnancies. PMID: 21870022 [PubMed - as supplied by publisher] (Source: Annals of the Academy of Medicine, Singapore)

Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses

Prenatal Diagnosis — Sun, 26 Jun 2011 23:00:00 +0100

ConclusionsOur results showed that a definitive etiology can be established in most cases of prenatal holoprosencephaly. Chromosomal anomalies were the most frequent finding. However, in euploid fetuses, molecular diagnosis is worthwhile, as different genes with different inheritance patterns may be responsible for this malformation. Thorough evaluation proved beneficial for assessing more accurate prognosis and recurrence risks. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Heavy metals in human amniotic fluid: a pilot study

Prenatal Diagnosis — Mon, 20 Jun 2011 23:00:00 +0100

ConclusionThis study demonstrates that heavy metals pass into and accumulate in AF from a very early stage of gestation. Other studies are needed to evaluate the long‐term health effects of this early exposure. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

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Magnesium concentration in amniotic fluid in the early weeks of the second trimester of pregnancy

BMC Research Notes — Mon, 13 Jun 2011 23:00:00 +0100

Conclusions: It would be interesting to extend the study to a larger number of pregnant women to determine variations in normal magnesium values in the three trimesters of pregnancy. (Source: BMC Research Notes)

Why Are Autism Spectrum Conditions More Prevalent in Males?

PLoS Biology: Archived Table of Contents — Mon, 13 Jun 2011 23:00:00 +0100

by Simon Baron-Cohen, Michael V. Lombardo, Bonnie Auyeung, Emma Ashwin, Bhismadev Chakrabarti, Rebecca Knickmeyer Autism Spectrum Conditions (ASC) are much more common in males, a bias that may offer clues to the etiology of this condition. Although the cause of this bias remains a mystery, we argue that it occurs because ASC is an extreme manifestation of the male brain. The extreme male brain (EMB) theory, first proposed in 1997, is an extension of the Empathizing-Systemizing (E-S) theory of typical sex differences that proposes that females on average have a stronger drive to empathize while males on average have a stronger drive to systemize. In this first major update since 2005, we describe some of the evidence relating to the EMB theory of ASC and consider how typical sex diffe...

The choice of detecting down syndrome: does money matter?

Health Economics — Sun, 12 Jun 2011 23:00:00 +0100

AbstractThe prenatal diagnosis of Down syndrome (amniocentesis) presents parents with a complex dilemma which requires comparing the risk of giving birth to an affected child and the risk of losing an unaffected child through amniocentesis‐related miscarriage. Building on the specific features of the French Health insurance system, this paper shows that variation in the monetary costs of the diagnosis procedure may have a very significant impact on how parents solve this ethical dilemma. The French institutions make it possible to compare otherwise similar women facing very different reimbursement schemes and we find that eligibility to full reimbursement has a largely positive effect on the probability of taking an amniocentesis test. By contrast, the sole fact of being labelled ‘high...

Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios.

Annals of Tropical Paediatrics — Fri, 10 Jun 2011 00:15:03 +0100

Authors: Bhat YR, Vinayaka G, Vani R, Prashanth KA, Sreelakshmi K A woman presented with polyhydramnios at 22 weeks of gestation with a structurally normal fetus and placenta. Biochemical analysis of amniotic fluid detected a very high level of chloride (582 mmol/L), which led to the diagnosis of Bartter syndrome. With serial amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks. Neonatal and subsequent investigations further supported the diagnosis of Bartter syndrome. The infant was well at birth and now, at 5 months of age, is gaining weight normally on indomethacin. PMID: 21575321 [PubMed - in process] (Source: Annals of Tropical Paediatrics)

[Early diagnosis of gestational diabetes by amniotic fluid insulin levels?].

Zeitschrift fur Geburtshilfe und Neonatologie — Tue, 31 May 2011 23:00:00 +0100

Authors: Zollner U, Ahmadi M, Dietl J Gestational diabetes mellitus (GDM) occurs in 3-5% of all pregnant women. As there is no general screening in Germany, many cases remain undetected. Maternal as well as foetal morbidity are increased in GDM. The aim of this study was to investigate whether amniotic fluid insulin or C-peptide levels, collected by genetic amniocentesis in early pregnancy, are predictive for gestational diabetes. Patients at risk for developing GDM might be identified and treated very early. PMID: 21755481 [PubMed - in process] (Source: Zeitschrift fur Geburtshilfe und Neonatologie)

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Neutrophil elastase and interleukin-6 in amniotic fluid as indicators of chorioamnionitis and funisitis

European Journal of Obstetrics, Gynecology, and Reproductive Biology — Fri, 27 May 2011 04:00:00 +0100

Conclusion: Amniotic fluid concentrations of neutrophil elastase are more sensitive than interleukin-6 for the rapid detection of chorioamnionitis and funisitis. (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)

Feticidal digoxin injection before dilation and evacuation abortion: Evidence and ethics

Contraception — Fri, 27 May 2011 04:00:00 +0100

Feticidal injection of digoxin before dilation and evacuation (D&E) abortion has become common in recent years and is now a standard policy at some abortion clinics. The procedure entails amniocentesis and administration of digoxin into the amniotic fluid or fetus before uterine evacuation. Two new reports in this issue of the journal present conflicting views about its safety . (Source: Contraception)

A case report of complete chorioamniotic membrane separation.

Journal of Nippon Medical School — Fri, 20 May 2011 15:15:02 +0100

We describe a patient with complete chorioamniotic membrane separation (CMS). During embryologic development, the chorionic and amniotic membranes each arise from their own germ layers and form a celomic cavity in the first trimester of pregnancy. By the early second trimester, the cavity has shrunk and the membranes become conjugated. However, the membranes may separate spontaneously or because of an invasive intrauterine procedure. This pathologic condition is referred to as CMS. Extensive CMS can lead to miscarriage, fetal death, neonatal death, amniotic band syndrome, umbilical cord complications, and preterm delivery. In this case, CMS was detected in the 29th week of pregnancy with a routine ultrasonographic examination in the absence of a distinct non-reassuring fetal status or an a...

Late-onset maternal mortality after amniocentesis

European Journal of Obstetrics, Gynecology, and Reproductive Biology — Thu, 19 May 2011 04:00:00 +0100

Septic shock is an extremely rare complication of amniocentesis . Here we report a maternal mortality due to sepsis after second-trimester genetic amniocentesis. A 36-year-old woman arrived at the emergency department with a high-grade fever (41°C) and lower abdominal pain 24h after the procedure. An ultrasonographic examination revealed intrauterine foetal death. Leukocyte count was 23,000/mm3, and platelet count was 78,000/mm3. The patient was immediately monitored, and blood culture was performed. Intravenous broad-spectrum antibiotic regimen was initiated. Medical abortion was induced, and the placental remnants were evacuated immediately. Thrombocytes and fresh-frozen plasma were also administered to the patient. Shortly afterwards, the patient complained of chest pain and respirator...

Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis

Archives of Gynecology and Obstetrics — Wed, 18 May 2011 18:19:09 +0100

Conclusion From an economic perspective, MLPA is the preferred prenatal diagnostic strategy in women who undergo amniocentesis on behalf of their age, following prenatal screening or parental anxiety. Content Type Journal ArticlePages 1-9DOI 10.1007/s00404-011-1921-yAuthors Elisabeth M. A. Boormans, Department Obstetrics and Gynecology, Academic Medical Centre, Room H4-243, PO Box 22660, 1100 DD Amsterdam, The NetherlandsErwin Birnie, Department of Management and Health Policies, Erasmus University Rotterdam, Rotterdam, The NetherlandsMariëtte J. V. Hoffer, Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The NetherlandsMerryn V. E. Macville, University Hospital Maastricht, Maastricht, The NetherlandsRobert-Jan Galjaard, Erasmus University ...

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Experimental treatment of bilateral fetal chylothorax using in‐utero pleurodesis

Ultrasound in Obstetrics and Gynecology — Mon, 16 May 2011 04:00:00 +0100

ConclusionsOK‐432 pleurodesis appeared to be an experimental alternative to the gold‐standard technique of thoracoamniotic shunting in non‐hydropic fetal chylothorax. In hydropic fetuses, pleurodesis appeared less effective. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. (Source: Ultrasound in Obstetrics and Gynecology)

Experimental treatment of bilateral fetal chylothorax using in utero pleurodesis

Ultrasound in Obstetrics and Gynecology — Sun, 15 May 2011 23:00:00 +0100

ConclusionIn non‐hydropic FC cases, the OK‐432 pleurodesis appeared to be an experimental alternative to the gold‐standard thoracoamniotic shunting in hospitals where such treatment is not available due to technical and logistic reasons but in hydropic fetuses the proposed treatment is ineffective (15% survival versus 44‐66% with shunting according to previous reports). Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. (Source: Ultrasound in Obstetrics and Gynecology)

Experimental treatment of bilateral fetal chylothorax using in utero pleurodesis.

The Ultrasound Review of Obstetrics and Gynecology — Sun, 15 May 2011 23:00:00 +0100

CONCLUSION: In non-hydropic FC cases, the OK-432 pleurodesis appeared to be an experimental alternative to the gold-standard thoracoamniotic shunting in hospitals where such treatment is not available due to technical and logistic reasons but in hydropic fetuses the proposed treatment is ineffective (15% survival versus 44-66% with shunting according to previous reports). Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. PMID: 21584887 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)

Lamellar bodies: platelet channel particles as predictors of respiratory distress syndrome (RDS) and of transient tachypnea of the newborn

Journal of Perinatal Medicine — Thu, 12 May 2011 05:40:53 +0100

Conclusions: The quantification of LBs is a reliable method, simple to execute, useful in predicting RDS, and may be useful in evaluating suspicion of TTN. (Source: Journal of Perinatal Medicine)

Two cases of pregnancy involving conjoined twins, with details of management after opting for live birth

Journal of Obstetrics and Gynaecology Research — Wed, 11 May 2011 23:00:00 +0100

This report describes the clinical findings in two cases of conjoined twins, and discusses their management. One case involved thoracopagus complicating a triplet pregnancy, and the other involved cephalothoracopagus, in which the outcome was intrauterine fetal death due to abruptio placentae after amniocentesis. Recent improvements in ultrasound imaging have facilitated the diagnosis of conjoined twins as early as the first trimester. Although many mothers opt to terminate pregnancy when conjoined twins are diagnosed, a few do not, as in the cases described. In such cases, pregnancy management, including accurate determination of the degree of organ fusion and psychological follow up, are important. On the basis of the two present cases, we present a systematic flow diagram for management...

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The implication of second-trimester amniotic fluid TNF-alpha, cytochrome C and cell death nucleosomes in the prediction of preterm labor and/or premature rupture of membranes

Archives of Gynecology and Obstetrics — Wed, 27 Apr 2011 08:45:44 +0100

Conclusion Second-trimester amniotic fluid cell death nucleosomes’ levels are significantly associated with preterm delivery and could possibly serve as predicting markers. Content Type Journal ArticlePages 1-7DOI 10.1007/s00404-011-1909-7Authors K. Puchner, 2nd Department of Obstetrics and Gynecology, Aretaieion Hospital, University of Athens, Athens, GreeceC. Iavazzo, 2nd Department of Obstetrics and Gynecology, Aretaieion Hospital, University of Athens, Athens, GreeceD. Gourgiotis, 2nd Department of Obstetrics and Gynecology, Aretaieion Hospital, University of Athens, Athens, GreeceM. Boutsikou, 2nd Department of Obstetrics and Gynecology, Aretaieion Hospital, University of Athens, Athens, GreeceS. Baka, 2nd Department of Obstetrics and Gynecology, Aretaieion Ho...

Our patients’ stories: my child’s congenital diaphragmatic hernia

Thrive, Children's Hospital Boston — Mon, 25 Apr 2011 15:26:40 +0100

Jeanne Griffin Vaughn, NP, is a nurse practitioner at Massachusetts General Hospital. When she found out her child would be born with a congenital diaphragmatic hernia, she was thankful for her many connections in medicine, but also felt extra worry because she knew how serious medical conditions could be for children. This is her story. At just one-day-old Jeanne’s baby needed immediate medical attention. As an expectant parent, there’s one sentence that no one wants to hear: “There’s something wrong with the baby.” My husband and I heard those dreaded words during our first child’s ultrasound, when the baby was barely at 18 weeks gestation. When we arrived at the doctor’s office that morning, we decided we weren’t going to ask about the baby’s sex because we wante...

Placental mesenchymal dysplasia, a case of intrauterine sudden death of fetus with rupture of cirsoid periumbilical chorionic vessels

Diagnostic Pathology — Sat, 23 Apr 2011 23:00:00 +0100

We report a 32-year-old woman (1-gravid, 1-para) with a vesicular lesion in her uterus that was pointed out on ultrasound at 8 weeks' gestation. Amniocentesis at 15 weeks' gestation showed a normal female karyotype, 46XX. As the pregnancy advanced, the mole-like lesion became relatively reduced. Throughout gestation, the maternal human chorionic gonadotropin level was normal, but the serum alpha fetoprotein level rose as her pregnancy progressed. Her fetus did not exhibit any remarkable anomalies. The patient visited our hospital complaining of a diminished feeling of fetal movements at 36 weeks 5 days' gestation, and intrauterine fetal death (IUFD) was confirmed. She delivered a 2336-g female without any definite anomalies. A pathological examination led to a diagnosis of placental mesenc...

Too Much Information? Noninvasive Genetic Tests for the Unborn

Scientific American Topic - Medical Technology — Wed, 13 Apr 2011 13:00:00 +0100

Today expectant parents concerned about the diseases that could afflict their unborn children don’t have a lot of options. Blood tests can determine whether parents carry mutations for such genetic diseases as cystic fibrosis and Tay-Sachs, but they can’t determine whether the baby will inherit them. And although fetuses can be tested for Down syndrome and other chromosomal abnormalities using amniocentesis or chorionic villus sampling, about 1 percent of procedures cause miscarriage, so many moms opt out. But thanks to a handful of recent breakthroughs, noninvasive prenatal tests may soon be available that diagnose genetic diseases before birth using samples of a mother’s blood--an exciting possibility that also raises difficult questions about how they should be regulat...

Assessing the perception of the childbirth experience in Italian women: A contribution to the adaptation of the childbirth perception questionnaire.

Midwifery — Sun, 10 Apr 2011 23:00:00 +0100

CONCLUSION: the current research evidenced that the Italian first adaptation of the CPQ, the Childbirth Experience Perception Scale, may be a valid and reliable measure of childbirth experience perception for use in different women's health clinical outcome and studies. PMID: 21489665 [PubMed - as supplied by publisher] (Source: Midwifery)

Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade

European Journal of Obstetrics, Gynecology, and Reproductive Biology — Wed, 06 Apr 2011 23:00:00 +0100

In conclusion, performing the karyotype on amniotic fluid samples is a good method for the detection of chromosome abnormalities during pregnancy. The number of cytogenetic studies on amniotic fluid has now decreased, however, due to the implementation of first trimester prenatal screening for the detection of Down syndrome, which allows karyotyping on chorionic villus samples. Our results also show that both ultrasound abnormalities and increased nuchal translucency are excellent clinical indicators for fetal chromosome abnormality. (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)

New Technology Capable Of Prenatal Detection Of 150 Genetic Syndromes From An Amniocentesis

Health News from Medical News Today — Wed, 06 Apr 2011 11:00:00 +0100

Genetadi Biotech has presented to the scientific community - meeting at the XXVI National Congress on Human Genetics held in Murcia - a prenatal diagnostic device based on amniocentesis. More concretely, it is based on microarray technology (genomic hybridisation genetic chips) and with a diagnostic resolution 100 times greater than the common cytogenetic techniques. The new device, known as Amniochip, is able to detect 150 genetic genetic syndromes... (Source: Health News from Medical News Today)

Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non‐selective application of a MLPA‐based extended prenatal panel in routine prenatal diagnosis

Prenatal Diagnosis — Wed, 30 Mar 2011 03:42:51 +0100

ConclusionsOur data represent the largest published series involving this type of genomic analysis in routine prenatal diagnosis, without indication bias. The panel increases significantly the diagnostic yield of conventional PCD and does not pose interpretation problems. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

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Revisiting the risk for aneuploidy in fetuses with isolated pyelectasis

Prenatal Diagnosis — Sun, 27 Mar 2011 00:00:00 +0100

ConclusionsOur data confirm a significant association between isolated pyelectasis and increased risk of aneuploidy, particularly T21. These likelihood ratios can be used to adjust aneuploidy risk and in counseling patients regarding appropriateness of amniocentesis. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Prediction of exact delivery time in patients with preterm labor and intact membranes at admission by amniotic fluid interleukin‐8 level and preterm labor index

Journal of Obstetrics and Gynaecology Research — Wed, 16 Mar 2011 00:00:00 +0100

Conclusions: Using markers reflecting inflammation in the uterus (amniotic IL‐8 or vaginal fFN) and clinical symptoms (PLI), we may be able to predict the exact delivery time in preterm labor patients with intact membranes. (Source: Journal of Obstetrics and Gynaecology Research)

Clinical significance of oligohydramnios in patients with preterm labor and intact membranes*,**

Journal of Perinatal Medicine — Fri, 11 Mar 2011 01:30:16 +0100

Journal of Perinatal Medicine 39 (2): 131-136 Abstract Objective: To determine the frequency and clinical significance of oligohydramnios in patients with preterm labor and intact membranes. Study design: An amniotic fluid index (AFI) was determined before amniocentesis ( (Source: Journal of Perinatal Medicine)

Genetics: Prenatal test for Down's syndrome

Nature — Wed, 09 Mar 2011 00:00:00 +0100

Genetics: Prenatal test for Down's syndrome Nature 471, 7337 (2011). doi:10.1038/471138b Fetuses can be screened for Down's syndrome using amniocentesis and other invasive methods, which all carry a risk of inducing miscarriage. A non-invasive test that analyses fetal DNA extracted from the mother's blood might one day replace current methods.Philippos Patsalis at the Cyprus Institute (Source: Nature)

Feasibility of DNA diagnosis of haemoglobinopathies on coelocentesis

British Journal of Haematology — Tue, 08 Mar 2011 00:00:00 +0100

SummaryAt 5–12 weeks of gestation the amniotic sac is surrounded by celomic fluid, which contains cells of fetal origin. This fluid can be sampled by celocentesis, which involves the ultrasound‐guided insertion of a needle through the vagina. The aim of this study was to examine the feasibility of prenatal diagnosis of haemoglobinopathies from the celomic fluid using a specific protocol. Celocentesis was performed at 7–9 weeks gestation in 26 singleton pregnancies at risk for haemoglobinopathies. In 25 cases more than 30 fetal cells were recovered from the celomic fluid and in all these cases molecular analysis for haemoglobinopathies was possible and the results were confirmed by subsequent chorionic villus sampling or amniocentesis. The results of this study suggest that reliab...

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Prenatal Down Syndrome Blood Test in the Works

WebMD Health — Mon, 07 Mar 2011 20:54:03 +0100

A new method of screening for Down syndrome during pregnancy may eventually offer a safer, less invasive alternative to amniocentesis, according to a new study. (Source: WebMD Health)

New blood test for Down’s syndrome?

NHS News Feed — Mon, 07 Mar 2011 11:57:00 +0100

Conclusion This small study shows promise in the development of a non-invasive method for detecting Down’s syndrome pregnancies. Currently, the condition is diagnosed prenatally using invasive methods that carry a risk of miscarriage, such as amniocentesis and chorionic villus sampling. The discovery of foetal DNA in the maternal bloodstream has led scientists to investigate whether genetic diseases can be diagnosed using a maternal blood test, thus avoiding the need for an invasive test and the associated risks. This is the latest in a number of studies investigating such tests. This genetic test shows promise in this early trial, identifying foetuses with Down’s syndrome with 100% accuracy. However, only 14 foetuses with Down’s were included in the blinded part of the trial. Furthe...

Simple blood test for Down's syndrome is on its way, say scientists

Guardian Unlimited Science — Sun, 06 Mar 2011 18:00:00 +0100

Announcement made by researchers looking to replace current risky procedure that causes 1% of women tested to miscarryScientists have developed a blood analysis that tells expectant mothers if they are carrying a child with Down's syndrome and hope to offer the test to all pregnant women.The test could replace existing surgical techniques used to diagnose the genetic disorder in unborn babies. These techniques cause about one in 100 women to miscarry.Researchers say the new test will be cheap and simple enough for doctors working in most clinics to screen any pregnant woman who requests it.In a blind study of blood samples taken from 40 pregnant women, the test correctly identified 14 cases of Down's syndrome with no false positives, though a larger clinical trial is needed to validate the...

Quantitative variation analysis of fetal DNA in maternal plasma samples collected before and after amniocentesis

Journal of Obstetrics and Gynaecology Research — Sun, 06 Mar 2011 00:00:00 +0100

Conclusions: Our preliminary study suggests that amniocentesis, although invasive, could be associated with minimal, if any, disruption at the fetal–maternal interface, as revealed by the lack of substantial modifications of fDNA levels in maternal circulation. (Source: Journal of Obstetrics and Gynaecology Research)

One small step and one giant leap for noninvasive prenatal screening: an editorial

American Journal of Obstetrics and Gynecology — Tue, 01 Mar 2011 00:00:00 +0100

It is likely that, soon after amniocentesis became accepted widely for the prenatal diagnosis of fetal chromosome and certain structural abnormalities, clinicians and researchers took interest in developing technologies that would permit prenatal detection of fetal abnormalities without placing pregnancies at increased risk for fetal loss as the result of invasive procedures. The development of such technologies would require considerable work, first to determine whether evaluation of the fetus was even possible by direct analysis of fetal tissues or cells that were obtained directly from the mother without interrupting the fetoplacental unit and then whether such analysis could be developed that would differentiate abnormal from normal pregnancies accurately. Accordingly, the initial, and...

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aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis

Prenatal Diagnosis — Thu, 24 Feb 2011 00:00:00 +0100

ConclusionAlthough interpretation of aCGH results may be straightforward in the majority of cases, placental mosaicism may cause misinterpretations of rapid aCGH results on direct chorionic villi due to discrepant chromosomal constitutions of cytotrophoblast and mesenchymal villus core. Further investigations including cultures, fluorescence in situ hybridization and possible amniocentesis will still be required for interpretation of results. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

What Is Amniocentesis?

Health News from Medical News Today — Tue, 08 Feb 2011 16:00:00 +0100

Amniocentesis, also known as Amniotic Fluid Test is a test that detects chromosomal abnormalities in the fetus. A sample of amniotic fluid is taken from the amniotic sac (amnion) surrounding the unborn baby and its DNA is examined for genetic abnormalities. The fluid carries fetal tissue, it can assess whether the fetus has developed, or might develop a serious health condition or abnormality. The fluid that surrounds the fetus in the womb - the amniotic fluid - has cells that the skin of the developing baby has shed, as well as his/her waste products... (Source: Health News from Medical News Today)

3‐D ultrasound of the fetal ear and fetal autosomal trisomies: a pilot study of a new screening protocol

Prenatal Diagnosis — Fri, 04 Feb 2011 00:00:00 +0100

ConclusionsThese findings support the potential of this technique to provide valuable information in the identification of an increased‐risk population. Prospective studies are needed to confirm the value of this screening modality as well as to assess its facility and ability to be incorporated into routine obstetrical practice. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

A safer and earlier way to determine if a fetus has Down syndrome is being studied

OrlandoSentinel: Medical Research — Thu, 03 Feb 2011 15:26:00 +0100

Women may soon be able to find out very early in their pregnancies whether they are carrying a fetus with Down syndrome by offering a simple blood sample. The safe, noninvasive test would pose fewer risks to the mother and fetus than amniocentesis or... (Source: OrlandoSentinel: Medical Research)

Pregnancy Diary: Part 1

Psych Central — Thu, 03 Feb 2011 15:21:41 +0100

So after years of deliberation, my husband and I decided we’re finally feeling brave enough to take the plunge into parenthood. What I’ve found is the more you think about it, the longer you’ll delay it. Let’s be honest, there’s plenty to put you off! The list of potential hurdles and problems is endless, so perhaps it’s best not to go there now, since it’s too late to back out! I must admit, the media scare stories on fertility probably gave me the final push. I’m 34 now, which is fine, but considering I (currently) want two children, I realised I didn’t have forever. So we moved out of our thin-walled upstairs apartment to a larger house, with garden. I started on folic acid a couple of months in advance, and pretty much stopped drink...

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Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome

Prenatal Diagnosis — Tue, 01 Feb 2011 00:00:00 +0100

ConclusionLarge isolated CPCs may transiently dilate the fetal cerebral ventricles. Follow‐up to 6 years has shown normal growth and development. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Role of prenatal diagnosis and counseling in the management of 735 pregnancies complicated by primary human cytomegalovirus infection: A 20-year experience

Journal of Clinical Virology — Mon, 31 Jan 2011 00:00:00 +0100

Conclusions: Reference virology centers and ad hoc trained and experienced physicians are required for accurate diagnosis of primary infection in pregnancy and ensuing counseling. Prenatal diagnosis has a central role in the management of pregnancies complicated by primary HCMV infection. HCMV-seronegative women should receive adequate information. (Source: Journal of Clinical Virology)

Chorionic villus sampling and the risk of preeclamspia: a systematic review and meta-analysis

Archives of Gynecology and Obstetrics — Sat, 22 Jan 2011 20:12:02 +0100

Conclusion None of the included studies were randomized prospective trials designed to investigate the effect of CVS on preeclampsia. Accordingly, this review is limited by the heterogeneity, small number and retrospective nature of the available studies. CVS does not seem to increase the risk of preeclampsia or other pregnancy-induced hypertensive disorders. However, randomized prospective trials that are designed to investigate the risk of preeclampsia after CVS are needed to make a definite conclusion. Content Type Journal ArticlePages 1-7DOI 10.1007/s00404-011-1840-yAuthors Ahmet Basaran, Department of Obstetrics and Gynecology, ACIBADEM Kayseri Hospital, Kayseri, TurkeyMustafa Basaran, Department of Obstetrics and Gynecology, Konya Education and Research Hospi...

[Assessment of anxiety, pain and its management in prenatal diagnosis procedures.]

Journal de Gynecologie, Obstetrique et Biologie de la Reproduction — Fri, 21 Jan 2011 00:00:00 +0100

CONCLUSION: An analgesic, anxiolytic, or a relaxation technique can be proposed to anxious and applicant patients undergoing CVS. Technical conditions of the procedure are more difficult to improve, however, we should use if possible thinner needles, and avoid, wherever technically possible, the punctures on the lateral side of the uterus. Finally, further studies seem necessary for the evaluation of a treatment protocol. PMID: 21257273 [PubMed - as supplied by publisher] (Source: Journal de Gynecologie, Obstetrique et Biologie de la Reproduction)

Application of proteomics to prenatal screening and diagnosis for aneuploidies

Clinical Chemistry and Laboratory Medicine — Thu, 20 Jan 2011 01:06:47 +0100

Clinical Chemistry and Laboratory Medicine 49 (1): 33-41 Abstract Current screening for fetal aneuploidies relies on biochemical and ultrasound measurements, and the sensitivity and specificity needs to be improved to reduce the number of pregnant women subjected to invasive diagnostic procedures, such as amniocentesis. Proteomic technologies enable new strategies for discovering biomarkers from complex biological fluids in a high-throughput and sensitive manner. Since mass spectrometry-based techniques allow for both qualitative and quantitative analysis of a given proteome, they have been widely used to resolve and compare the proteome of maternal plasma, serum, urine, cervical-vaginal fluid, and amniotic fluid. Comparisons of proteomes of normal fluids with those from aneuploidy pregnan...

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Design and usability of heuristic‐based deliberation tools for women facing amniocentesis

Health Expectations — Tue, 18 Jan 2011 00:00:00 +0100

Conclusion Theoretical approaches based on fast and frugal heuristics can be used to develop deliberation tools that provide helpful support to patients facing real‐world decisions about amniocentesis. (Source: Health Expectations)

Beyond informed choice: prenatal risk assessment, decision-making and trust

Clinical Ethics — Tue, 18 Jan 2011 00:00:00 +0100

In 2004, prenatal risk assessment (PRA) was implemented as a routine offer in Denmark, in order to give all pregnant women an informed choice about whether to undergo prenatal testing. PRA is a non-invasive intervention performed in the first trimester of pregnancy and measures the risk of a fetus having Down's syndrome or other chromosomal disorders. The risk figure provides the basis for action, i.e. the decision about whether or not to undergo invasive fetal testing via the maternal route (amniocentesis or chorionic villus sampling), which, however, involves the risk of inducing a miscarriage. On the basis of ethnographic fieldwork in an ultrasound clinic in Denmark and interviews with pregnant women and their partners, this paper investigates how ideals such as autonomy and non-directi...

Risk for placental abruption following amniocentesis and chorionic villus sampling

Prenatal Diagnosis — Mon, 17 Jan 2011 00:00:00 +0100

(Source: Prenatal Diagnosis)

Amniocentesis: Could I have forgiven myself for terminating a pregnancy?

Telegraph Health — Fri, 14 Jan 2011 19:12:34 +0100

Erin Baker recalls the pain and agonising wait she endured to find out if her unborn child had Down's syndrome. But a quick blood test could soon put women out of their misery earlier. (Source: Telegraph Health)

Twin pregnancies: guidelines for clinical practice from the French College of Gynaecologists and Obstetricians (CNGOF)

European Journal of Obstetrics, Gynecology, and Reproductive Biology — Fri, 14 Jan 2011 00:00:00 +0100

Abstract: The rate of twin deliveries in 2008 was 15.6 per 1000 in France, an increase of approximately 80% since the beginning of the 1970s. It is recommended that chorionicity be diagnosed as early as possible in twin pregnancies (Professional Consensus). The most relevant signs (close to 100%) are the number of gestational sacs between 7 and 10 weeks and the presence of a lambda sign between 11 and 14 weeks (Professional Consensus).In twin pregnancies, nuchal translucency is the best parameter for evaluating the risk of aneuploidy (Level B). The routine use of serum markers during the first or the second trimester is not recommended (Professional Consensus). In the case of a choice about sampling methods, chorionic villus sampling is recommended over amniocentesis (Professional Consensu...

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Down syndrome blood screening advances made

CBC | Health — Wed, 12 Jan 2011 20:57:40 +0100

An experimental DNA blood screening could eventually cut down on the number of invasive tests such as amniocentesis, researchers hope. (Source: CBC | Health)

DNA Blood Test Practically Eliminates Risky Down's Syndrome Invasive Testing

Health News from Medical News Today — Wed, 12 Jan 2011 16:00:00 +0100

Until now, for it to be determined if a child will be born with Down's syndrome, invasive procedures needed to be conducted, however a new study finds that women in high risk pregnancies for Down's syndrome could have a DNA blood test to detect the disorder and avoid invasive procedures. Such procedures include amniocentesis, which requires a puncture of the amniotic sac, or chorionic villus sampling or a removal of a small piece of placenta tissue (chorionic villi) from the uterus during early pregnancy... (Source: Health News from Medical News Today)

DNA blood test can cut invasive testing for Down's syndrome by 98 percent, study suggests

ScienceDaily Headlines — Wed, 12 Jan 2011 16:00:00 +0100

Women in high risk pregnancies for Down's syndrome could have a DNA blood test to detect the disorder and avoid invasive procedures such as amniocentesis or chorionic villus sampling, finds a large scale study. (Source: ScienceDaily Headlines)

Down syndrome blood test could cut invasive testing

CTV Health — Wed, 12 Jan 2011 14:28:29 +0100

A blood test being developed to screen for Down syndrome could practically eliminate the need for invasive procedures, such as amniocentesis, a new study suggests. (Source: CTV Health)

Promising results for new Down’s test

NHS News Feed — Wed, 12 Jan 2011 10:46:00 +0100

Conclusion This is a high quality diagnostic study. The findings validate the accuracy of a new maternal plasma DNA sequencing test, comparing the results with confirmatory diagnosis obtained through amniocentesis or chorionic villus sampling, currently the gold standard tests for diagnosing Down’s from genetic samples. The study also compared two levels of multiplex sequencing, 2-plex and 8-plex, finding 2-plex to have 100% accuracy at detecting babies with Down’s syndrome. However, specificity was slightly less and there was a 3.4% possibility of a false positive. This means that people who got a negative result could be confident their baby did not have Down’s. With a positive test result however, there would be the slight possibility the baby did not actually have Down’s. This ...

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Hope for Down's DNA blood test

BBC News | Health | UK Edition — Wed, 12 Jan 2011 10:30:01 +0100

A DNA blood test for Down's syndrome could save nearly all pregnant women from invasive procedures like amniocentesis, say experts. (Source: BBC News | Health | UK Edition)

Progress Toward Blood Test for Down Syndrome

WebMD Health — Wed, 12 Jan 2011 00:53:13 +0100

A new blood test may help pregnant women who are at high risk for having a baby with Down syndrome avoid more invasive tests such as amniocentesis and chronic villus sampling (CVS). (Source: WebMD Health)

DNA blood test can cut invasive testing for Down's syndrome by 98 percent

EurekAlert! - Medicine and Health — Tue, 11 Jan 2011 05:00:00 +0100

(BMJ-British Medical Journal) Women in high risk pregnancies for Down's syndrome could have a DNA blood test to detect the disorder and avoid invasive procedures such as amniocentesis or chorionic villus sampling, finds a large scale study published on BMJ.com today. (Source: EurekAlert! - Medicine and Health)

Evaluation of a Universal Real-Time Polymerase Chain Reaction for Detection of Amniotic Fluid Infection in Premature Rupture of Membranes

American Journal of Perinatology — Tue, 11 Jan 2011 00:00:00 +0100

This study evaluates a real-time polymerase chain reaction (PCR) for the detection of amniotic fluid infection and neonatal complications by amniocentesis following PPROM. A total of 61 singleton pregnancies with PPROM were analyzed retrospectively, including histopathologic examination of the placenta and neonatal complications. The real-time PCR detects a highly conserved sequence of the bacterial 16S ribosomal DNA, and its efficacy was compared with standard tests including amniotic fluid glucose concentration, lactate dehydrogenase level, and maternal white cells count and C-reactive protein levels. Sensitivity and specificity were similar for PCR (64% and 85%) and standard tests (58% and 80%). However, the PCR technique has the additional advantage of possible identification of the ba...

Cytogenetic analysis of 355 cases of fetal loss in different trimesters

Prenatal Diagnosis — Tue, 04 Jan 2011 00:00:00 +0100

ConclusionParents should be counseled on all aspects of cytogenetic analysis after fetal death. Antepartum testing after pregnancy loss is recommended. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

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[Non-invasive prenatal diagnosis of cystic fibrosis.]

Archives de Pediatrie — Sat, 01 Jan 2011 00:00:00 +0100

Authors: Paterlini Bréchot P, Mouawia H, Saker A Cystic fibrosis (CF) is a frequently fatal autosomal recessive inherited disease affecting around one in 3000 newborns in France, the carrier frequency varying from one in 20 to one in 40 subjects depending on the geographical area. The disease is caused by a chloride channel defect that is attributable to mutations in the gene that encodes the CF transmembrane conductance regulator (CFTR). Approximately, 1200 different mutations have been discovered. Among them, the F508del mutation accounts for 70% of mutated alleles worldwide. Prenatal diagnosis (PND) of inherited monogenic disorders such as CF currently relies on invasive procedures-amniocentesis, chorionic villus sampling (CVS) - which carry a significant risk of miscarriage (...

Fetomaternal transfusion after amniocentesis and cordocentesis

Irish Journal of Medical Science — Wed, 29 Dec 2010 06:49:22 +0100

Conclusions Cordocentesis causes more injury to the extrafetal compartment, which results in a higher level of fetomaternal transfusion. However, though a nearly ten times higher fetomaternal transfusion was observed after cordocentesis, there was no essential difference in pregnancy outcome between the two groups. Content Type Journal ArticleDOI 10.1007/s11845-010-0663-3Authors J. Sikovanyecz, Departments of Obstetrics and Gynecology, Faculty of Medicine, Albert Szent-Györgyi Medical and Pharmaceutical Center, University of Szeged, Semmelweis u. 1., Szeged, 6725 HungaryE. Horváth, Department of Medical Genetics, Faculty of Medicine, Albert Szent-Györgyi Medical and Pharmaceutical Center, University of Szeged, Szeged, HungaryN. Pásztor, Departments of Obstetrics...

Huntington's disease: a clinical review

Orphanet Journal of Rare Diseases — Mon, 20 Dec 2010 00:00:00 +0100

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD). The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Hun...

Amniotic fluid as a source of pluripotent and multipotent stem cells for organ regeneration.

Current Opinion in Organ Transplantation — Mon, 13 Dec 2010 00:00:00 +0100

Authors: Da Sacco S, De Filippo RE, Perin L PURPOSE OF REVIEW: Amniotic fluid, due to its contact to the fetus during development, is considered an important diagnostic tool to evaluate the health status of the fetus during pregnancy. However, amniotic fluid also contains a heterogeneous cellular population that can be safely collected by amniocentesis and easily cultured. Many different cell types have been found within amniotic fluid and currently some of them are being tested for their possible use for cellular therapy. RECENT FINDINGS: Potential of pluripotent and multipotent cells isolated from the amniotic fluid has been tested and in-vitro differentiations toward various cell types have been successfully performed. Furthermore, in-vivo studies are highlighting the benefits and m...

Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis

Journal of Assisted Reproduction and Genetics — Tue, 30 Nov 2010 17:52:35 +0100

Conclusions While many X-linked disorders can be analyzed by sexing, genes located in the pseudoautosomal regions have high XY recombination rates, requiring multiple markers to enable an accurate diagnosis. Content Type Journal ArticleDOI 10.1007/s10815-010-9508-2Authors Gheona Altarescu, ZOHAR PGD Unit, Medical Genetics Institute, Shaare Zedek Medical Center, POB 3235, Jerusalem, IsraelOrit Reish, Genetics Institute, Assaf Harofeh Medical Center, Zerifin, IsraelPaul Renbaum, ZOHAR PGD Unit, Medical Genetics Institute, Shaare Zedek Medical Center, POB 3235, Jerusalem, IsraelEster Kasterstein, IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, IsraelDvorah Komarovsky, IVF Unit, Assaf Harofeh Medical Center, Tel Aviv University, Zerifin, IsraelAlisa...

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Amniocentesis-related adverse outcomes in diamniotic twins: is there a difference compared to singleton pregnancies?

European Journal of Obstetrics, Gynecology, and Reproductive Biology — Mon, 22 Nov 2010 00:00:00 +0100

Conclusion: In our experience, the incidence of amniocentesis-related adverse outcomes is not increased in diamniotic twins compared to singleton pregnancies. (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)

Autologous transplantation of amniotic fluid derived mesenchymal stem cells into sheep fetuses.

Cell Transplantation — Fri, 19 Nov 2010 00:00:00 +0100

Authors: Shaw SW, Bollini S, Nader KA, Gastadello A, Mehta V, Filppi E, Cananzi M, Gaspar HB, Qasim W, De Coppi P, David AL Long term engraftment and phenotype correction has been difficult to achieve in humans after in utero stem cell transplantation mainly because of allogeneic rejection. Autologous cells could be obtained during gestation from the amniotic fluid with minimal risk for the fetus and the mother. Using a sheep model, we explored the possibility of using amniotic fluid mesenchymal stem cells (AFMSCs) for autologous in utero stem cell/gene therapy. We collected amniotic fluid (AF) under ultrasound-guided amniocentesis in early gestation pregnant sheep (n=9, 58 days of gestation, term = 145 days). AFMSCs were isolated and expanded in all sampled fetal sheep. Those cells we...

In Defense of Boys

Psychology Today Parenting Center — Mon, 15 Nov 2010 16:08:15 +0100

In response to Are Boys More Desirable Than Girls? A reader wrote:"I am pregnant with our first and only child we'll be able to have. I was devastated to learn it is a boy. I know I'll love this baby, but I am so sad that I will never have a daughter. I never longed for (or really even wanted) a son - I longed for a daughter." So many women are a hundred percent behind the female ideal. They picture themselves with daughters or come from families with generations of female offspring. They are surprised and sometimes shocked when they learn their baby is a boy. The idea of a male child seems so foreign. There is no arguing about the strength of a good mother-daughter bond or women's desire for it. Willa started her family at age thirty-five and only wanted one child-a girl. "I cried after m...

Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age

Seminars in Fetal and Neonatal Medicine — Mon, 15 Nov 2010 00:00:00 +0100

Summary: Prenatal diagnosis is an important part of obstetrics care. In the current prenatal programmes, definitive diagnosis of fetal genetic or chromosomal conditions is conducted through fetal sampling by amniocentesis or chorionic villus sampling. To obviate the risks of fetal miscarriage that are associated with the invasive sampling procedures, we have been developing non-invasive prenatal diagnostic tests based on cell-free fetal DNA analysis from maternal plasma. To date, fetal sex and rhesus D status determination by circulating fetal DNA analysis is performed clinically in many centres. Strategies for the non-invasive diagnosis of monogenic diseases have been developed. Accurate detection of fetal trisomy 21 by next-generation sequencing has been achieved. Many of the non-invasiv...

Different communication strategies for disclosing results of diagnostic prenatal testing.

Cochrane Database of Systematic Reviews — Sat, 13 Nov 2010 02:25:04 +0100

CONCLUSIONS: We found no conclusive evidence that, while waiting for the full karyotype following amniocentesis, issuing results from a rapid analysis reduces maternal anxiety. The limited evidence from the two trials included in this review does not help resolve the dilemma about whether full karyotyping should be abandoned in favour of limited rapid testing for women undergoing Down's syndrome screening. This choice will rest on clinical arguments and cost-effectiveness rather than impact on anxiety.There is also no evidence to support the view that issuing amniocentesis results as soon as they are available is more user friendly than using a pre-defined fixed date. Studies evaluating the effect of different strategies for disclosing results on women anxiety for CVS are needed. PMID:...

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Periconceptional cytomegalovirus infection: pregnancy outcome and rate of vertical transmission

Prenatal Diagnosis — Thu, 11 Nov 2010 00:00:00 +0100

ConclusionThe risk of transmission of periconceptional CMV infection is lower than previously reported. These data should be borne in mind when counseling affected couples. Copyright © 2010 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Comparison of complications in second trimester amniocentesis performed with 20G, 21G and 22G needles

Journal of Perinatal Medicine — Wed, 10 Nov 2010 16:46:26 +0100

Conclusion: Short- and long-term complications did not differ among amniocenteses performed with 20G, 21G, and 22G needles. (Source: Journal of Perinatal Medicine)

Histiocytoid cardiomyopathy: does it exist in the fetal-age group?

Cardiovascular Pathology — Tue, 09 Nov 2010 05:00:00 +0100

A 20-week-old female fetus was identified to have Down's syndrome by amniocentesis in a 37-year-old primigravida. Fluorescent in situ hybridization analysis result for trisomy 21 was positive. Fetal echocardiography was done antenatally which was unremarkable. Elective abortion was carried out and the fetus was sent for autopsy and histopathology examination. (Source: Cardiovascular Pathology)

[Feasibility of chorionic villous sampling outside a prenatal diagnosis center.]

Journal de Gynecologie, Obstetrique et Biologie de la Reproduction — Mon, 08 Nov 2010 00:00:00 +0100

CONCLUSION: Our study shows that the presence of trained professional allows for onsite performance chorionic villous sampling. PMID: 21067873 [PubMed - as supplied by publisher] (Source: Journal de Gynecologie, Obstetrique et Biologie de la Reproduction)

Fetal loss associated with second trimester amniocentesis

Archives of Gynecology and Obstetrics — Fri, 05 Nov 2010 10:51:46 +0100

Conclusion The procedure-related fetal loss rates in pregnant women ≥35 years old after amniocentesis before 24 and 28 complete weeks were 0.17 and 0.50%, respectively. The certain factors influencing the risk of fetal loss might be independent of the amniocentesis procedure. Content Type Journal ArticleDOI 10.1007/s00404-010-1727-3Authors Somsri Pitukkijronnakorn, Maternal Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 10400 ThailandPatama Promsonthi, Maternal Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 10400 ThailandPanyu Panburana, Maternal Fetal Medicine Unit, Department of Obstetrics...

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Prediction of microbial invasion of the amniotic cavity in women with preterm labour: analysis of multiple proteins in amniotic and cervical fluids

BJOG: An International Journal of Obstetrics and Gynaecology — Thu, 04 Nov 2010 00:00:00 +0100

Conclusions Prediction of intra‐amniotic infection using selected cervical proteins was equally good as prediction using the same proteins collected from amniotic fluid, or a combination of cervical and amniotic proteins. (Source: BJOG: An International Journal of Obstetrics and Gynaecology)

Prediction of microbial invasion of the amniotic cavity in women with preterm labour: analysis of multiple proteins in amniotic and cervical fluids.

BJOG : An International Journal of Obstetrics and Gynaecology — Thu, 04 Nov 2010 00:00:00 +0100

Conclusions Prediction of intra-amniotic infection using selected cervical proteins was equally good as prediction using the same proteins collected from amniotic fluid, or a combination of cervical and amniotic proteins. PMID: 21054762 [PubMed - as supplied by publisher] (Source: BJOG : An International Journal of Obstetrics and Gynaecology)

Long-term developmental follow-up of infants who participated in a randomized clinical trial of amniocentesis vs laser photocoagulation for the treatment of twin-to-twin transfusion syndrome

American Journal of Obstetrics and Gynecology — Mon, 01 Nov 2010 00:00:00 +0100

Conclusion: FSLC was significantly associated with a reduction of the risk of death or long-term major neurological impairment at the time of diagnosis and treatment. (Source: American Journal of Obstetrics and Gynecology)

Non-invasive prediction of intra-amniotic inflammation in women with preterm labor.

The Ultrasound Review of Obstetrics and Gynecology — Wed, 27 Oct 2010 23:00:00 +0100

CONCLUSIONS: In women with preterm labor and intact membranes, the risk for intra-amniotic inflammation could be predicted non-invasively with a risk score based on gestational age, cervical length, and maternal blood WBC. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd. PMID: 21031346 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)

Absent gallbladder on fetal ultrasound: prenatal findings and postnatal outcome.

The Ultrasound Review of Obstetrics and Gynecology — Wed, 27 Oct 2010 23:00:00 +0100

CONCLUSIONS: When prenatal nonvisualization of the fetal gallbladder is associated with other severe malformation, aneuploidy should be suspected. When isolated, if cystic fibrosis is ruled out, the outcome is good. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd. PMID: 20981875 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)

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Frontomaxillary Facial Angle Measurements in Euploid Korean Fetuses at 11 Weeks' to 13 Weeks 6 Days' Gestation

Journal of Ultrasound in Medicine — Thu, 21 Oct 2010 00:00:00 +0100

Conclusions. Ethnic differences in frontomaxillary facial angle measurements should be considered when incorporating the frontomaxillary facial angle in fetal aneuploidy screening in the Korean population. (Source: Journal of Ultrasound in Medicine)

Inflammatory cytokines and antioxidants in midtrimester amniotic fluid: correlation with pregnancy outcome

American Journal of Obstetrics and Gynecology — Fri, 15 Oct 2010 00:00:00 +0100

Conclusion: Amniotic fluid alpha-fetoprotein, but not vitamin C, may protect against preterm birth in patients with elevated midtrimester IL-6 levels. (Source: American Journal of Obstetrics and Gynecology)

Does hepatitis B virus prenatal transmission result in postnatal immunoprophylaxis failure?

Clinical and Vaccine Immunology — Tue, 12 Oct 2010 23:00:00 +0100

Conclusion: Presence of intrauterine hepatitis B antigen and DNA does not indicate postnatal HBV infection and vaccination failure. PMID: 20943880 [PubMed - as supplied by publisher] (Source: Clinical and Vaccine Immunology)

Parvovirus-Mediated Fetal Cardiomyopathy With Atrioventricular Nodal Disease

Pediatric Cardiology — Mon, 11 Oct 2010 05:53:55 +0100

This report presents a case of fetal second-degree heart block and cardiomyopathy secondary to API. A 19-year-old G4P1112 (gravida 4 para 2 with 1 term delivery, 1 preterm delivery, 1 termination, and 2 living children) was referred at 20 weeks gestation for fetal bradycardia. A 2:1 atrioventricular block was identified by fetal echocardiography at 23 weeks. Hydrops developed at 25 weeks. Amniocentesis and percutaneous umbilical blood sampling demonstrated API. At 31 weeks, the patient presented with preterm labor and delivered a viable female infant, who died of poor cardiac function and arrhythmia on the first day of life. In addition to fetal anemia and hydrops fetalis, API in pregnancy may cause direct fetal myocardial damage and conduction system disease. ...

Unexpected suppression of anti-Fy(a) and prevention of hemolytic disease of the fetus and newborn after administration of Rh immune globulin.

Transfusion — Wed, 06 Oct 2010 23:00:00 +0100

CONCLUSION: This case demonstrates the potential immunosuppressive properties of RhIG for down regulation of a possible clinically significant alloantibody, not anti-D, where no D+ antigen is in the circulation of the mother. The case illustrates the potential utility for using RhIG to modulate antibody levels in situations other than for classical suppression of anti-D production. Although the mechanism in this case is unknown, TGFβ-1-mediated or antibody-mediated immunosuppression to soluble nonparticulate antigens are possible mechanisms. PMID: 20946183 [PubMed - as supplied by publisher] (Source: Transfusion)

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Trisomy 1q42-qter associated with monosomy 6q27-qter: A case report.

European Journal of Ophthalmology — Mon, 04 Oct 2010 23:00:00 +0100

Conclusions. This case emphasizes the importance of scheduling a screening test for eye diseases and tumor in these patients. PMID: 20954143 [PubMed - as supplied by publisher] (Source: European Journal of Ophthalmology)

Flow cytometric methods for prenatal and neonatal diagnosis.

Journal of Immunological Methods — Sun, 03 Oct 2010 23:00:00 +0100

Authors: Curtis MG, Denny BW Flow cytometry offers a promising alternative to the current methods of amniocentesis or chorionic villus sampling (CVS) for fetal cell sorting for prenatal diagnosis. While flow cytometric methods have been greatly improved to be more sensitive at detecting fetal cells within the maternal circulation, there are still several challenges that need to be overcome before application in prenatal diagnosis. However, flow cytometry is a powerful tool that can be used to enhance molecular testing and other diagnostic testing modalities in prenatal and neonatal diagnosis. It remains the gold standard to identify cellular immunodeficiencies and for some immunological disorders with established biomarkers, flow cytometric assays can be used to make a definitive diagn...

Hemolytic Disease of the Newborn Associated with Anti-Jr(a) Alloimmunization in a Twin Pregnancy: The First Case Report in Korea.

The Korean Journal of Laboratory Medicine — Thu, 30 Sep 2010 23:00:00 +0100

We report the first case of HDNF caused by anti-Jr(a) alloimmunization in twins in Korea. A 33-yr-old nulliparous woman with no history of transfusion or amniocentesis was admitted at the 32nd week of gestation because of vaginal bleeding caused by placenta previa. Anti-Jr(a) antibodies were detected in a routine laboratory examination. An emergency cesarean section was performed at the 34th week of gestation, and 2 premature infant twins were delivered. Laboratory examination showed positive direct antiglobulin test and Jr(a+) phenotype in the red blood cells and the presence of anti-Jr(a) antibodies in the serum in both neonates. The infants underwent phototherapy for neonatal jaundice; this was followed by conservative management. They showed no further complications and were discharged...

Effectiveness of Timing Strategies for Delivery of Individuals With Placenta Previa and Accreta.

Obstetrics and Gynecology — Thu, 23 Sep 2010 19:13:50 +0100

CONCLUSION:: This decision analysis suggests the preferred strategy for timing of delivery in individuals with ultrasonographic evidence of placenta previa and placenta accreta under a variety of circumstances is delivery at 34 weeks of gestation. At any given gestational age, incorporating amniocentesis for verification of fetal lung maturity does not assist in the management of such individuals. LEVEL OF EVIDENCE:: III. PMID: 20859146 [PubMed - as supplied by publisher] (Source: Obstetrics and Gynecology)

Single Umbilical Artery Risk Factors and Pregnancy Outcomes.

Obstetrics and Gynecology — Thu, 23 Sep 2010 19:13:47 +0100

CONCLUSION:: Fetuses and neonates with single umbilical artery and isolated single umbilical artery are at increased risk for adverse outcomes. Identification of single umbilical artery is important for prenatal diagnosis of congenital anomalies and aneuploidy. Increased surveillance with isolated single umbilical artery may improve pregnancy outcomes. LEVEL OF EVIDENCE:: II. PMID: 20859147 [PubMed - as supplied by publisher] (Source: Obstetrics and Gynecology)

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Amniotic fluid α-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia

Clinical Chemistry and Laboratory Medicine — Thu, 23 Sep 2010 13:44:13 +0100

Conclusions: Our potential for further testing is limited; thus far, no other congenital disorders of glycosylation-positive samples have been available. Verification of our results in another laboratory with the exclusion of several potentially pertinent variables is advisable. Clin Chem Lab Med 2010;48:1281–5. (Source: Clinical Chemistry and Laboratory Medicine)

Invasive Fetal Karyotyping Doesn't Lead to Maternal Hypertension

Medscape ObGyn and Womens Health Headlines — Tue, 21 Sep 2010 08:20:39 +0100

Amniocentesis and chorionic villus sampling don't contribute to gestational hypertension or preeclampsia, Swedish researchers reported online August 17th in BJOG. Reuters Health Information (Source: Medscape ObGyn and Womens Health Headlines)

Triploidy in a fetus following amniocentesis referred for maternal serum screening test at second trimester

Indian Journal of Human Genetics — Fri, 17 Sep 2010 08:14:06 +0100

E Bagherizadeh, M Oveisi, Z Hadipour, A Saremi, Y Shafaghati, F BehjatiIndian Journal of Human Genetics 2010 16(2):94-96Amniocentesis was carried out at 17 weeks gestation in a 27-year-old woman, following an abnormal maternal serum screening (MSS) test. MSS test was carried out primarily to estimate the risk of trisomy for chromosome 21. The maternal serum markers used were alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3), together with maternal age. The fetus was identified as screen-positive for Edward's syndrome (trisomy 18), with low uE3, normal AFP and hCG levels. The calculated risk for trisomy 18 was more than 1:50. To identify any possible chromosomal abnormality, cytogenetic investigation was carried out on the amniotic fluid sam...