Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing.

Allanah Howard-Bath Alice PoultonJane HallidayLisa Hui

Published in: Prenatal diagnosis (2018)

SCAs now make up an increasing proportion of prenatal diagnostic results but due to the overall decline in diagnostic testing, the prenatal prevalence as a percentage of births remained steady. The ascertainment of fetal SCA has evolved from an incidental finding after testing for increased risk of trisomy 21, to a diagnosis obtained after suspected SCA on NIPT.

Keyphrases

pregnant women
risk factors
gene expression
copy number
dna methylation
gestational age