Noninvasive Prenatal Screening by Next-Generation Sequencing

• Published in: Annual review of genomics and human genetics 2014-01, Vol.15 (1), p.327-347
• Main Authors: Gregg, Anthony R, Van den Veyver, Ignatia B, Gross, Susan J, Madankumar, Rajeevi, Rink, Britton D, Norton, Mary E
• Format: Article
• Language: English
• Subjects: Aneuploidy; cell-free DNA; DNA - genetics; Down Syndrome - diagnosis; Down Syndrome - genetics; Female; fetal aneuploidy; Fetus; Genetic Counseling; High-Throughput Nucleotide Sequencing - methods; Humans; noninvasive prenatal screening; noninvasive prenatal testing; Pregnancy; Prenatal Diagnosis
• ISSN: 1527-8204; 1545-293X
• DOI: 10.1146/annurev-genom-090413-025341

Noninvasive prenatal screening (NIPS) has emerged as a highly accurate method of screening for fetal Down syndrome, with a detection rate and specificity approaching 100%. Challenging the widespread use of this technology are cost and the paradigm shift in counseling that accompanies any emerging technology. The expense of the test is expected to decrease with increased utilization, and well beyond the current NIPS technology, its components (fetal genome measurements, sequencing technology, and bioinformatics) will be utilized alone or in combinations to interrogate the fetal genome. The end goal is simple: to offer patients information early in pregnancy about fetal genomes without incurring procedural risks. This will allow patients an opportunity to make informed reproductive and pregnancy management decisions based on precise fetal genomic information.