Genomic medicine in prenatal diagnosis.

Abstract:

:Prenatal diagnostics has seen a rapid increase in the number of genetic disorders amenable to prenatal detection owing to advances in technology and research into the genetic etiology of many conditions. This article reviews the more traditional prenatal diagnostic techniques, such as amniocentesis and chorionic villus sampling for chromosome abnormalities and single gene disorders, and chromosome analysis of products of conception to determine the etiology of a spontaneous abortion, plus more recent advances such as rapid aneuploidy detection via fluorescence in situ hybridization and polymerase chain reaction, preimplantation genetic diagnosis, noninvasive analysis of cell-free fetal DNA in maternal circulation, and array-based comparative genomic hybridization.

journal_name

Clin Obstet Gynecol

authors

South ST,Chen Z,Brothman AR

doi

10.1097/GRF.0b013e3181616509

subject

Has Abstract

pub_date

2008-03-01 00:00:00

pages

62-73

issue

1

eissn

0009-9201

issn

1532-5520

pii

00003081-200803000-00008

journal_volume

51

pub_type

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