Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening.

ABSTRACT: Cell-free DNA screening (cfDNA), also referred to as noninvasive prenatal screening (NIPS), is utilized to screen for fetal chromosomal aneuploidies during pregnancy, including sex chromosome aneuploidies (SCAs). All patients within our center are offered diagnostic testing following a positive cfDNA for an SCA, but not all patients pursue this testing. This retrospective chart review aims to improve understanding of how often patients undergo confirmatory diagnostic testing when cfDNA is positive or inconclusive for an SCA and the pregnancy outcomes, including pregnancy termination and live birth rates. We also describe the outcomes of cases where patients had a normal cfDNA result; however, the cfDNA-predicted fetal sex is discrepant from the ultrasound-predicted fetal sex. The study fou

SUBMITTER: FitzGerald C 

PROVIDER: S-EPMC12435101 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature