Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated.

Jaime L LopesGuilherme S LopesElizabeth A L EnningaHutton M KearneyNicole L HoppmanRoss A Rowsey

Published in: Prenatal diagnosis (2020)

Failure to meet the clinical cutoff of 4% fetal fraction established for NIPS accuracy did not suggest increased risk for trisomy in our cohort. Because repeat testing was successful in the majority of cases and most failures were explained by high BMI and low gestational age, a redraw may be an appropriate next step before invasive screening due to concerns for trisomic pregnancies.

Keyphrases

gestational age
birth weight
preterm birth
pregnant women
body mass index
genome wide
high throughput
weight gain
dna methylation
gene expression
weight loss