Subject: Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma

Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasmaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The genetic trait of a fetus may be determined early on in pregnancy using cell-free fetal DNA extracted from the plasma of pregnant women. The challenges for noninvasive diagnosis include the variable but still low amount of cell-free fetal DNA in the first trimester (57-761 gE/mL) and the competing high background of maternal DNA in the plasma ([sim]90%). Prenatal detection of a paternally inherited dystonia 3 bp deletion mutation was undertaken using cell-free DNA (cfDNA) from the plasma of two at-risk pregnancies. The predicted fetal genotype was subsequently confirmed in each fetus.Cell-free fetal DNA was extracted fr...
Source: Prenatal Diagnosis - October 19, 2009 Category: Perinatology & Neonatology Authors: Cathy Meaney, G. Norbury Source Type: journals