Antenatal noninvasive DNA testing: clinical experience and impact.

摘要: Background  Nearly two decades ago, the discovery of circulating cell-free fetal DNA in maternal blood created a paradigm shift prenatal testing. Recent advances sequencing technology have facilitated rapid translation DNA-based testing into clinical antenatal care. Content  In this review, we summarize technical approaches and current applications noninvasive using plasma. We discuss impact these tests on care, outline proposed integration models, suggest future directions for field. Summary  The use detection rhesus D antigen status, sex, common whole chromosomal aneuploidies is now well established, although aneuploidy still considered screening not diagnostic. Further bioinformatics may see extend to subchromosomal aneuploidy, single gene disorders, entire genome.