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Is chorionic villus sampling associated with hypertensive disorders of pregnancy?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Our objective is to evaluate for potential associations between chorionic villus sampling (CVS) and hypertensive disorders of pregnancy.Using our genetic database, we compared the rates of hypertensive disorders between women who underwent CVS at 10-13 and 6/7 weeks with those seen for other indications at similar gestational ages who had no invasive procedure. Only singleton and euploid pregnancies were included. Statistical methods including univariable and multivariable logistic regression, supplemented by stratified analyses were used for comparisons.Among 11 012 pregnant women seen between 1990 and 2006 in our center ...
Source: Prenatal Diagnosis - November 17, 2009 Category: Perinatology & Neonatology Authors: Anthony O. Odibo, Ashima Singla, Diana L. Gray, Jeffrey M. Dicke, Barbara Oberle, James Crane Source Type: journals

Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samplesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - October 18, 2009 Category: Perinatology & Neonatology Authors: Claudia P. Radic, Liliana C. Rossetti, Johanna R. Zuccoli, Martín M. Abelleyro, Irene B. Larripa, Carlos D. De Brasi Source Type: journals

[Obituary] Obituary: Yury VerlinskyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Pioneer in the use of reproductive techniques, including chorionic villus sampling and preimplantation genetic diagnosis. He was born on Sept 1, 1943, in Ishim, Siberia, and died of colon cancer in Chicago, IL, USA, on July 16, 2009, aged 65 years. (Source: LANCET)
Source: LANCET - September 10, 2009 Category: Journals (General) Authors: Stephen Pincock Tags: Obituary Source Type: journals

Pain associated with chorionic villus sampling: transabdominal vs transcervical approachEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Objective: The purpose of this study was to compare anticipated and perceived pain that is associated with transabdominal and transcervical chorionic villus sampling (CVS).Study Design: Women with singleton pregnancies who were undergoing CVS completed a preprocedure 0-10 visual analog scale (VAS; 0 = no pain, 10 = excruciating pain) for anticipated transabdominal and transcervical CVS–related pain. After the procedure, patients completed a VAS for perceived pain.Results: One hundred twenty-one women underwent transabdominal (n = 98) or transcervical (n = 23) CVS. Anticipated pain was 4.5 ± 2.0, which was similar in pat...
Source: American Journal of Obstetrics and Gynecology - August 16, 2009 Category: OBGYN Authors: Joseph R. Wax, Norman P. Davies, William J. Watson, Angelina Cartin, Michael G. Pinette, Renée Chard, Molly Carpenter Tags: Selected papers from the 29th annual meeting (The Pregnancy Meeting) of the Society for Maternal-Fetal Medicine Source Type: journals

Alpha and beta thalassemia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The thalassemias are a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains. Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains. Imbalances of globin chains cause hemolysis and impair erythropoiesis. Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymptomatic and require no treatment. Alpha thalassemia intermedia, or hemoglobin H disease, causes hemolytic anemia. Alpha thalassemia major with hemoglobi...
Source: American Family Physician - August 14, 2009 Category: Primary Care Authors: Muncie HL, Campbell J Tags: Am Fam Physician Source Type: journals

Blood test for mothers could save lives of hundreds of unborn babiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
• Risk-free screening may replace amniocentesis test • Diagnosis would use maternal blood sample The NHS is developing a simple blood test that could save the lives of hundreds of unborn babies who are put at risk when doctors try to establish whether they are developing healthily in the womb, the Guardian has learned.The test could put an end to the use of invasive procedures such as amniocentesis, which cause some women to miscarry.The Guardian has been given exclusive access to the NHS's £2m research into a new technology which, if successful, would benefit the thousands of women a year whose babies are identified ...
Source: Guardian Unlimited Science - August 9, 2009 Category: Science Authors: Denis Campbell Tags: Medical research Pregnancy Life and style Health NHS Down's syndrome UK news The Guardian Science Source Type: news

Blood test could save lives of hundreds of babiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
• Risk-free screening may replace amniocentesis test • Diagnosis would use maternal blood sample The NHS is developing a simple blood test that could save the lives of hundreds of unborn babies who are put at risk when doctors try to establish whether they are developing healthily in the womb, the Guardian has learned.The test could put an end to the use of invasive procedures such as amniocentesis, which cause some women to miscarry.The Guardian has been given exclusive access to the NHS's £2m research into a new technology which, if successful, would benefit the thousands of women a year whose babies are identified ...
Source: Guardian Unlimited Science - August 9, 2009 Category: Science Authors: Denis Campbell Tags: Medical research Pregnancy Life and style Health NHS Down's syndrome UK news The Guardian Science Source Type: news

A microarray-based approach for the identification of epigenetic biomarkers for the noninvasive diagnosis of fetal diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe a novel microarray-based approach for the high-throughput discovery of epigenetic biomarkers for use in the noninvasive detection of fetal genetic disease.We combined a 215 060-probe custom oligonucleotide microarray with a comprehensive library preparation method and novel statistical tools to compare DNA methylation patterns in chorionic villus samples (CVS) with gestational age-matched maternal blood cell (MBC) samples. Our custom microarray was designed to provide high-resolution coverage across human chromosomes 13, 18 and 21.We identified 6311 MspI/HpaII sites across all three chromosomes that displayed t...
Source: Prenatal Diagnosis - August 1, 2009 Category: Perinatology & Neonatology Authors: Tianjiao Chu, Brian Burke, Kimberly Bunce, Urvashi Surti, W. Allen Hogge, David G. Peters Source Type: journals

Yury Verlinsky dies at 65; pioneered genetic testing methodEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The researcher, a Russian emigre, was the first in the U.S. to perform chorionic villus sampling to detect birth defects. He also pioneered the development of pre-implantation genetic diagnosis. Yury Verlinsky, the Russian emigré who was the first researcher in the United States to perform chorionic villus sampling to detect birth defects and who pioneered the development of pre-implantation genetic diagnosis to detect potential genetic problems before a fertilized egg is implanted in the mother, died of colon cancer Thursday at Northwestern Memorial Hospital in Chicago. He w...
Source: Los Angeles Times - Science - July 22, 2009 Category: Science Source Type: news

Normal pregnancy after tetraploid karyotype on trophectoderm biopsyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion(s): Although multiple cells can be analyzed using trophectoderm biopsy, abnormalities in the trophectoderm may not be present in the inner cell mass. (Source: Fertility and Sterility)
Source: Fertility and Sterility - July 14, 2009 Category: Reproduction Medicine Authors: Sacha A. Krieg, Ruth B. Lathi, Barry Behr, Lynn M. Westphal Tags: Case report summaries Source Type: journals

Larger Hospital Units Have Lower Miscarriage Rates After Invasive Pregnancy TestsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A study of more than 64,000 pregnant women has found that miscarriage rates following amniocentesis and chorionic villus sampling (CVS) - two invasive procedures to detect chromosomal abnormalities and birth defects - were 1.4 per cent and 1.9 per cent, respectively. (Source: Women's Health / OBGYN News From Medical News Today)
Source: Women's Health / OBGYN News From Medical News Today - July 8, 2009 Category: OBGYN Tags: Pregnancy / Obstetrics Source Type: news

Larger hospital units have lower miscarriage rates after invasive pregnancy testsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Wiley-Blackwell) A study of more than 64,000 pregnant women has found that miscarriage rates following amniocentesis and chorionic villus sampling were 1.4 percent and 1.9 percent, respectively. The research also found that the number of procedures carried out by a department had a significant effect on miscarriage rates with lower rates in larger units. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - July 7, 2009 Category: Global & Universal Source Type: news

Who should be allowed to perform amniocentesis and chorionic villus sampling?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19565531 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - June 28, 2009 Category: Radiology Authors: Alfirevic Z Tags: Ultrasound Obstet Gynecol Source Type: journals

Accurate Prenatal Diagnosis of Hb Bart's Hydrops Fetalis in Daily Practice with a Double-Check PCR System.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe a double-check PCR assay for accurate prenatal diagnosis. The study was conducted on 64 fetuses at risk of homozygous alpha(0)-thalassemia encountered at our routine thalassemia diagnosis laboratory. Chorionic villus sample (CVS), amniotic fluid or fetal blood specimens were obtained from pregnant women at risk and analyzed by two PCR methods. In the first method, the SEA alpha(0)-thalassemia deletion of parents and fetuses were determined by gap-PCR routinely run in our laboratory. In another method, two specific fragments located 5' to the zeta(2) gene (XbaI fragment) and the alpha(2)-globin gene (RsaI fragme...
Source: Acta Haematologica - June 18, 2009 Category: Hematology Authors: Karnpean R, Fucharoen G, Fucharoen S, Sae-Ung N, Sanchaisuriya K, Ratanasiri T Tags: Acta Haematol Source Type: journals

Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry studyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
To assess the fetal loss rate following amniocentesis and chorionic villus sampling (CVS).This was a national registry-based cohort study, including all singleton pregnant women who had an amniocentesis (n = 32 852) or CVS (n = 31 355) in Denmark between 1996 and 2006. Personal registration numbers of women having had an amniocentesis or a CVS were retrieved from the Danish Central Cytogenetic Registry, and cross-linked with the National Registry of Patients to determine the outcome of each pregnancy. Postprocedural fetal loss rate was defined as miscarriage or intrauterine demise before 24 weeks of gestation.The miscarria...
Source: Ultrasound in Obstetrics and Gynecology - June 5, 2009 Category: Radiology Authors: A. Tabor, C. H. F. Vestergaard, Ø. Lidegaard Source Type: journals

Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: The miscarriage rates (i.e. spontaneous loss and procedure-related loss) after amniocentesis and CVS were 1.4% and 1.9%, respectively. This difference may be explained by the difference in gestational age at the time of the procedures. The miscarriage rate was inversely correlated with the number of procedures performed in a department. Copyright (c) 2009 ISUOG. Published by John Wiley & Sons, Ltd. PMID: 19504504 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - June 4, 2009 Category: Radiology Authors: Tabor A, Vestergaard CH, Lidegaard O Tags: Ultrasound Obstet Gynecol Source Type: journals

[Transcription, Chromatin, and Epigenetics] Placenta-specific Methylation of the Vitamin D 24-Hydroxylase Gene: IMPLICATIONS FOR FEEDBACK AUTOREGULATION OF ACTIVE VITAMIN D LEVELS AT THE FETOMATERNAL INTERFACEEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study strongly suggests that epigenetic decoupling of vitamin D feedback catabolism plays an important role in maximizing active vitamin D bioavailability at the fetomaternal interface. (Source: Journal of Biological Chemistry)
Source: Journal of Biological Chemistry - May 22, 2009 Category: Chemistry Authors: Novakovic, B., Sibson, M., Ng, H. K., Manuelpillai, U., Rakyan, V., Down, T., Beck, S., Fournier, T., Evain-Brion, D., Dimitriadis, E., Craig, J. M., Morley, R., Saffery, R. Tags: Transcription, Chromatin, and Epigenetics Source Type: journals

The association between chorionic villus sampling and preeclampsiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
To determine whether an association exists between prenatal diagnostic procedures and preeclampsia.All women who underwent invasive prenatal diagnosis and were not at high risk for preeclampsia were identified during a 15-month period and matched by age with women who had not had invasive prenatal diagnosis. The association between prenatal diagnosis [amniocentesis and chorionic villus sampling (CVS)] and the development of preeclampsia was assessed in univariable and multivariable analyses.Six-hundred and fifty-three women who underwent prenatal diagnosis (501 by amniocentesis and 152 by CVS) were matched by age with 653 ...
Source: Prenatal Diagnosis - May 19, 2009 Category: Perinatology & Neonatology Authors: William A. Grobman, Melissa Auger, Lee P. Shulman, Sherman Elias Source Type: journals

Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Microfluidic digital PCR allows detection of fetal chromosomal aneuploidy utilizing uncultured amniocytes and chorionic villus tissue in less than 6 hours. (Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - April 20, 2009 Category: OBGYN Authors: H. Christina Fan, Yair J. Blumenfeld, Yasser Y. El-Sayed, Jane Chueh, Stephen R. Quake Tags: Genetics Source Type: journals

MFM/geneticist view on prenatal management of twinsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Twin pregnancies are associated with an increase in both fetal and maternal morbidity and mortality. Health care supervision is complex, increasingly requiring care from maternal-fetal medicine specialists. This review discusses optimal twin prenatal management, which includes recognizing increased twin pregnancy risks specific to twin-types; counseling families regarding fetal complications, ranging from prematurity to cerebral palsy; screening for aneuploidy and open neural tube defects; specific twin guidelines for diagnostic testing, including chorionic villus sampling and amniocentesis; and monitoring for maternal com...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - April 17, 2009 Category: Genetics & Stem Cells Authors: Barbara M. O'Brien Source Type: journals

Screening for Down syndrome: changing practice of obstetricians.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Obstetricians have adopted a new paradigm for Down syndrome screening. First-trimester screening has been incorporated into prenatal care. Experience with these current screening tests will likely influence future guidelines and challenge the long-standing tradition of offering diagnostic testing based on maternal age. This study highlights the need for concise, unambiguous guidelines and a need to address unresolved issues in Down syndrome screening. PMID: 19318157 [PubMed - in process] (Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - April 1, 2009 Category: OBGYN Authors: Driscoll DA, Morgan MA, Schulkin J Tags: Am J Obstet Gynecol Source Type: journals

Comment on the article Women's accounts of the physical sensation of chorionic villus sampling and amniocentesis: expectations and experience.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19339085 [PubMed - as supplied by publisher] (Source: Midwifery)
Source: Midwifery - March 30, 2009 Category: Midwifery Authors: Karasahin E, Alanbay I Tags: Midwifery Source Type: journals

Jacobsen syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pa...
Source: Orphanet Journal of Rare Diseases - March 7, 2009 Category: Internal Medicine Authors: Teresa Mattina, Concetta S Perrotta and Paul D Grossfeld Source Type: journals

Chorionic Villus Sampling Method Deemed SafeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Chorionic villus sampling is a frequent and safe prenatal method for genetic screening, according to the conclusions of a review published online Feb. 11 in the Journal of Craniofacial Surgery. (Source: Modern Medicine)
Source: Modern Medicine - February 19, 2009 Category: Journals (General) Source Type: info

Evaluating the Rate and Risk Factors for Fetal Loss After Chorionic Villus Sampling.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19155917 [PubMed - as supplied by publisher] (Source: Obstetrics and Gynecology)
Source: Obstetrics and Gynecology - January 23, 2009 Category: OBGYN Authors: Odibo A, Gray DL, Dicke JM, Crane JP, Tags: Obstet Gynecol Source Type: journals

Evaluating the rate and risk factors for fetal loss after chorionic villus sampling.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19155918 [PubMed - in process] (Source: Obstetrics and Gynecology)
Source: Obstetrics and Gynecology - January 23, 2009 Category: OBGYN Authors: Cohen SM, Yagel S Tags: Obstet Gynecol Source Type: journals

Fetal chromosomal abnormalities: antenatal screening and diagnosis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Pregnant women of all ages should be offered screening and invasive diagnostic testing for chromosomal abnormalities before 20 weeks' gestation. New developments in screening methods have increased the number of options for patients. Diagnostic options include chorionic villus sampling in the first trimester and amniocentesis in the second trimester. Screening options in the first trimester include nuchal translucency testing in combination with measurement of pregnancy-associated plasma protein A and human chorionic gonadotropin. Nuchal translucency testing alone is not as effective. Screening options in the second tr...
Source: American Family Physician - January 15, 2009 Category: Primary Care Authors: Anderson CL, Brown CE Tags: Am Fam Physician Source Type: journals

Chorionic Villus Sampling May Raise Hemangioma RiskEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A review of published studies suggests that chorionic villus sampling (CVS) for prenatal diagnosis may be associated with an increased risk of infantile hemangioma and possibly limb defects. Reuters Health Information (Source: Medscape Ob/Gyn & Women's Health Headlines)
Source: Medscape Ob/Gyn & Women's Health Headlines - January 6, 2009 Category: OBGYN Tags: Ob/Gyn and Women ' s Health Source Type: info

Microarray Analysis Improves Prenatal DiagnosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The use of array comparative genomic hybridization (CGH) with amniocentesis or chorionic villus sampling improves prenatal detection of chromosomal abnormalities, results of a new study indicate. Reuters Health Information (Source: Medscape Pathology Headlines)
Source: Medscape Pathology Headlines - December 29, 2008 Category: Pathology Tags: Ob/Gyn and Women ' s Health Source Type: info

Chorionic Villus Sampling May Increase Risk Of HemangiomasEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Performing chorionic villus sampling (CVS) for prenatal diagnosis may lead to an increased rate of blood vessel malformations called hemangiomas in infants, according to a review in the November Journal of Craniofacial Surgery. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - December 25, 2008 Category: Consumer Health News Tags: Dermatology Source Type: news

Computerized Prenatal Genetic Testing Decision-Assisting Tool: A Randomized Controlled Trial.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION:: Using an interactive prenatal testing decision tool results in more informed prenatal genetic testing decisions than viewing standard educational booklets. CLINICAL TRIAL REGISTRATION:: Clinicaltrials.gov, www.clinicaltrials.gov, NCT00686062 LEVEL OF EVIDENCE:: I. PMID: 19104360 [PubMed - as supplied by publisher] (Source: Obstetrics and Gynecology)
Source: Obstetrics and Gynecology - December 24, 2008 Category: OBGYN Authors: Kuppermann M, Norton ME, Gates E, Gregorich SE, Learman LA, Nakagawa S, Feldstein VA, Lewis J, Washington AE, Nease RF Tags: Obstet Gynecol Source Type: journals

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospitalEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we...
Source: Genetics and Molecular Biology - December 20, 2008 Category: Genetics & Stem Cells Source Type: journals

Editorial commentary on the state of clinical genetics in Brazil exemplified by the article on prenatal diagnosis by Kessler et al. Genetics and Molecular Biology (this issue)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we...
Source: Genetics and Molecular Biology - December 20, 2008 Category: Genetics & Stem Cells Source Type: journals

A novel method for extracting DNA from chorionic villus samples for use in CVS-PCR, which ensures complete villus dissociationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
To demonstrate that glass disruption beads dissociate chorionic villus samples releasing DNA from mesenchymal and cytotrophoblast cells that is suitable for processing by CVS-PCR (rapid molecular aneuploidy testing). This method is quicker than conventional methods and may limit discrepancies between PCR and karyotype in certain types of placental mosaicism.DNA was extracted from villus samples by mechanical disruption of the cells using glass beads. This method was compared to collagenase incubation followed by chelex extraction of the digested villus. PCR data generated were compared using standard criteria.DNA extracted...
Source: Prenatal Diagnosis - December 17, 2008 Category: Perinatology & Neonatology Authors: Elaine Holgado, Ben Holgado, Stuart Liddle, Terry Ballard, Lisa Levett Source Type: journals

Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospectsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Fetuses of women with alloantibodies to RhD (D) are at risk from hemolytic disease of the fetus and newborn, but only if the fetal red cells are D-positive. In such pregnancies, it is beneficial to determine fetal D type, as this will affect the management of the pregnancy. It is possible to predict, with a high level of accuracy, fetal blood group phenotypes from genotyping tests on fetal DNA. The best source is the small quantity of fetal DNA in the blood of pregnant women, as this avoids the requirement for invasive procedures of amniocentesis or chorionic villus sampling (CVS). Many laboratories worldwide now provide n...
Source: Prenatal Diagnosis - December 12, 2008 Category: Perinatology & Neonatology Authors: Geoff Daniels, Kirstin Finning, Pete Martin, Edwin Massey Source Type: journals

Early administration of enzyme replacement therapy for Pompe disease: Short-term follow-up resultsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report the case of a 35-week part-of-twin neonate, whose older sibling died earlier because of infantile Pompe disease. At 32 weeks of gestation, fetal echocardiography showed hypertrophic cardiomyopathy in twin 1, which persisted until birth at 35 weeks of gestation. Diagnosis was confirmed after birth by enzyme assay, and mutation analysis showing homozygosity for the sequence change 1327–2A>G (GAA intr 8). Administration of ERT at 18 h of age, resulted in normalization of cardiac abnormalities within 21 weeks of therapy, and normal neurodevelopmental assessment at 46 weeks, using Gr...
Source: Journal of Inherited Metabolic Disease - December 10, 2008 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5...
Source: Orphanet Journal of Rare Diseases - November 25, 2008 Category: Internal Medicine Authors: Lorenzo Lo Muzio Source Type: journals

A randomized study to assess two different techniques of aspiration while performing transabdominal chorionic villus samplingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The technique used to perform transabdominal chorionic villus sampling (CVS) is not standardized, but aspiration of villi is generally obtained by discontinuous vacuum created in a syringe, manually or by a hand-grip device. We evaluated the feasibility of a new method of performing CVS which employs a 4-mL Vacutainer® connected to the needle, producing a continuous negative pressure.Two hundred pregnant women, whose gestational age ranged from 10 + 2 to 16 + 2 (mean, 12 + 1) weeks, entered the randomized study, which was powered to detect with 90% probability the absence of any difference in the size of chorionic samples...
Source: Ultrasound in Obstetrics and Gynecology - November 20, 2008 Category: Radiology Authors: G. Battagliarin, M. Lanna, D. Coviello, B. Tassis, A. Quarenghi, U. Nicolini Source Type: journals

A randomized study to assess two different techniques of aspiration while performing transabdominal chorionic villus sampling.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: This new technique for performing transabdominal CVS uses a readily available device and is as effective as traditional sampling systems to aspirate villi. It has the advantage of being a one-operator procedure. Copyright (c) 2008 ISUOG. Published by John Wiley & Sons, Ltd. PMID: 19016569 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - November 18, 2008 Category: Radiology Authors: Battagliarin G, Lanna M, Coviello D, Tassis B, Quarenghi A, Nicolini U Tags: Ultrasound Obstet Gynecol Source Type: journals

Microarray analysis improves prenatal diagnosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A "chip" or array that can quickly detect disorders such as Down syndrome or other diseases associated with chromosomal abnormalities proved an effective tool in prenatal diagnosis in a series of 300 cases at Baylor College of Medicine , said researchers in a report that appears in the current issue of the journal Prenatal Diagnosis. In the report, a team led by Dr. Arthur Beaudet and Dr. Sau Wai Cheung at BCM, described use of array comparative genomic hybridization to analyze samples taken during amniocentesis or chorionic villus sampling for chromosomal abnormalities. Amniocentesis and chorionic villus samplin...
Source: Baylor College of Medicine News - November 17, 2008 Category: Universities & Medical Training Source Type: news

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
To evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain significance, and the ability to detect abnormalities not detected by karyotype, and vice versa.Women undergoing amniocentesis or chorionic villus sampling (CVS) for karyotype were offered aCGH analysis using a targeted microarray. Parental samples were obtained concurrently to exclude maternal cell contamination and determine if copy number variants (CNVs) were de novo, or inherited prior to issuing a report.We analyzed 300 samples, most were amniotic fluid (82%) and CVS (17%). The mo...
Source: Prenatal Diagnosis - November 14, 2008 Category: Perinatology & Neonatology Authors: Ignatia B. Van den Veyver, Ankita Patel, Chad A. Shaw, Amber N. Pursley, Sung-Hae L. Kang, Marcia J. Simovich, Patricia A. Ward, Sandra Darilek, Anthony Johnson, Sarah E. Neill, Weimin Bi, Lisa D. White, Christine M. Eng, James R. Lupski, Sau Wai Cheung, Source Type: journals

Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis - experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and YEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported.A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic fluids (AF) were analyzed using a commercial MLPA kit (SALSA P095) for aneuploidy of chromosomes 13, 18, 21, X, and Y, and subsequent G-banding.MLPA gave conclusive results in 2330 (97.1%) CVS and 1417 (92.9%) AF samples. MLPA and G-banding showed concordant results except for five CVS and two AF. These were acceptable differences...
Source: Prenatal Diagnosis - November 10, 2008 Category: Perinatology & Neonatology Authors: Tommy Gerdes, Maria Kirchhoff, Anne-Marie Lind, Gitte Vestergaard Larsen, Susanne Kjaergaard Source Type: journals

Embryonic delay in growth and development related to confined placental trisomy 16 mosaicism, diagnosed by I-Space Virtual RealityEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Objective: To demonstrate the use of a novel three-dimensional (3D) virtual reality (VR) system in the visualization of first trimester growth and development in a case of confined placental trisomy 16 mosaicism (CPM+16).Design: Case report.Setting: Prospective study on first trimester growth using a 3D VR system.Patient(s): A 34-year-old gravida 1, para 0 was seen weekly in the first trimester for 3D ultrasound examinations.Intervention(s): Chorionic villus sampling was performed because of an enlarged nuchal translucency (NT) measurement and low pregnancy-associated plasma protein-A levels, followed by amniocentesis.Resu...
Source: Fertility and Sterility - November 1, 2008 Category: Reproduction Medicine Authors: Christine M. Verwoerd-Dikkeboom, Peter N.A.C.M. van Heesch, Anton H.J. Koning, Robert-Jan H. Galjaard, Niek Exalto, Eric A.P. Steegers Tags: Case report summaries Source Type: journals

Are invasive Down's tests to be replaced?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Current prenatal tests for Down's syndrome, such as amniocentesis or chorionic villus sampling, require insertion of a needle into the uterus to acquire a sample for genetic testing. (Source: HealthcareRepublic GP News)
Source: HealthcareRepublic GP News - October 15, 2008 Category: Primary Care Source Type: news

Fetal Loss Uncommon After Chorionic Villus SamplingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Chorionic villus sampling does not appear to raise the risk of fetal loss. Specifically, investigators at the Washington University School of Medicine in St. Louis found that the fetal loss rate following chorionic villus sampling was no different than the rate among pregnant women who did not undergo an invasive procedure, according to the results of a 16-year retrospective study. Reuters Health Information (Source: Medscape Pathology Headlines)
Source: Medscape Pathology Headlines - October 2, 2008 Category: Pathology Tags: Ob/Gyn and Women ' s Health Source Type: info

Evaluating the rate and risk factors for fetal loss after chorionic villus sampling.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: The estimated fetal loss rate after CVS was not significantly different from the group that had no procedure. Significant predictors of fetal loss after CVS were identified, but the accuracy of the final model for predicting fetal loss was only modest. LEVEL OF EVIDENCE: II. PMID: 18827123 [PubMed - in process] (Source: Obstetrics and Gynecology)
Source: Obstetrics and Gynecology - October 1, 2008 Category: OBGYN Authors: Odibo AO, Dicke JM, Gray DL, Oberle B, Stamilio DM, Macones GA, Crane JP Tags: Obstet Gynecol Source Type: journals

Techniques for chorionic villus sampling and amniocentesis: a survey of practice in specialist UK centresEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Guidelines exist for amniocentesis and chorionic villous sampling (CVS) practice, but there is no consensus regarding individual techniques. Our survey sought to review current practice within specialist centres in the United Kingdom.RCOG sub-specialist training centres were invited to complete a postal questionnaire, seeking their consultants' primary choices for amniocentesis and CVS techniques. Information sought included needle choice, local anaesthetic (LA), suction methods, quantity of samples obtained; and with regard to CVS, preferred approach [transcervical (TC) or transabdominal (TA)].Response rate was 96% provid...
Source: Prenatal Diagnosis - September 23, 2008 Category: Perinatology & Neonatology Authors: A. J. Carlin, Z. Alfirevic Source Type: journals

Evaluation of the use of monoclonal antibodies and nested PCR for noninvasive prenatal diagnosis of hemoglobinopathies in India.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Our purpose was to develop and evaluate isolation and enrichment of fetal erythroblasts and a nested polymerase chain reaction (PCR) approach using fetal erythroblasts for detecting the beta-globin gene mutations for a noninvasive prenatal diagnosis of hemoglobinopathies.Maternal blood at different periods of gestation was layered on a Percoll density gradient for enrichment of fetal nucleated RBCs (NRBCs). A combination of 3 monoclonal antibodies (CD45-peridinin chlorophyll protein, glycophorin A-phycoerythrin, and anti-hemoglobin F-fluorescein isothiocyanate) was used for flow cytometric sorting of fetal NRBCs from e...
Source: American Journal of Clinical Pathology - July 17, 2008 Category: Pathology Authors: D'Souza E, Sawant PM, Nadkarni AH, Gorakshakar A, Mohanty D, Ghosh K, Colah RB Tags: Am J Clin Pathol Source Type: journals

Chorionic villus sampling and the risk of adverse outcome in patients undergoing multifetal pregnancy reduction.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: CVS prior to MPR does not increase the risk of pregnancy loss. Our data suggest that CVS prior to singleton reduction may decrease the risk of adverse outcome. PMID: 18639217 [PubMed - as supplied by publisher] (Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - July 16, 2008 Category: OBGYN Authors: Ferrara L, Gandhi M, Litton C, McClung EC, Jandl K, Moshier E, Eddleman K, Stone J Tags: Am J Obstet Gynecol Source Type: journals

Frontomaxillary facial angle in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: Measurement of the FMF angle improves the performance of first-trimester screening for trisomy 21. PMID: 18512854 [PubMed - in process] (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - July 1, 2008 Category: Radiology Authors: Borenstein M, Persico N, Kagan KO, Gazzoni A, Nicolaides KH Tags: Ultrasound Obstet Gynecol Source Type: journals