Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 15
Volume 15, Issue -, Pages 327-347Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-090413-025341
Keywords
fetal aneuploidy; noninvasive prenatal testing; noninvasive prenatal screening; cell-free DNA
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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.
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