Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies.

Nicola PersicoSimona BoitoPaolo VolpeBenedetta IschiaMattia GentileLuisa RonzoniValentina De RobertisIsabella FabiettiClaudiana OlivieriEnrico PeritiRomina FicarellaRosamaria SilipigniGeorgios Rembouskos

Published in: Prenatal diagnosis (2020)

In fetuses with first trimester ultrasound anomalies and a low-risk cfDNA result for trisomy 21, 18 and 13, diagnostic testing should be offered with the main objective to detect chromosomal abnormalities beyond common trisomies.

Keyphrases

magnetic resonance imaging
gestational age
copy number
risk factors
contrast enhanced ultrasound
ultrasound guided
preterm birth
gene expression
genome wide