Cell-free DNA screening for rare autosomal trisomies and segmental chromosome imbalances.

Yvette C RaymondShavi FernandoMelody MenezesSimon MeagherBen W MolAndrew C McLennan Fergus P ScottKaren MiziaKaren CareyGabrielle FlemingDaniel Lorber Rolnik

Published in: Prenatal diagnosis (2022)

The PPVs for SI and RAT results are low, except when a structural abnormality is also present. Discordant positive RATs are associated with growth restriction.

Keyphrases

oxidative stress
copy number
room temperature
gene expression
dna methylation