Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing.

Stephanie H GusehLouise Wilkins-HaugAnjali KaimalLisa Dunn-AlbaneseSophie AdamsSarah CarrollMarie DiscenzaLori DobsonMarney BrillingerJudith FosterSamantha GburHayley GreenNancy HerrigChelsea MandigoMichelle PacionePenelope RobertsAbigail SassamanKathleen SteinbergCourtney StudwellKathryn J Gray

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

While NIPS is an excellent screening test for common aneuploidies, genome-wide NIPS misses clinically significant findings detected on routine diagnostic testing. False positive and false negative cases highlight the importance of pretest counseling regarding NIPS limitations, especially in the setting of fetal anomalies.

Keyphrases

genome wide
dna methylation
patients undergoing
pregnant women
clinical practice
gene expression
hepatitis c virus
hiv testing