Noninvasive prenatal screening by next-generation sequencing.
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.
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Florida College of Medicine, Gainesville, Florida 32610; email: greggar@ufl.edu.
Anthony R
AR
Gregg
Ignatia B
IB
Van den Veyver
Susan J
SJ
Gross
Rajeevi
R
Madankumar
Britton D
BD
Rink
Mary E
ME
Norton
D000782:Aneuploidy; D004247:DNA / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005333:Fetus; D005817:Genetic Counseling; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004247:DNA
cell-free DNA; fetal aneuploidy; noninvasive prenatal screening; noninvasive prenatal testing