Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age.

ABSTRACT:

Background

Pathogenic (P) copy number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and noninvasive prenatal screening (NIPS) can enable interrogate the entire fetal genome to screening of fetal CNVs. This study evaluated the clinical application of NIPS for detecting CNVs among fetuses with USMs in pregnant women not of advanced maternal age (AMA).

Results

Fetal aneuploidies and CNVs were identified in 6647 pregnant women using the Berry Genomics NIPS algorithm.Those with positive NIPS results underwent amniocentesis for prenatal diagnosis. The NIPS and prenatal diagnosis results were analyzed and compared among different USMs. A total of 96 pregnancies were scored positive for fetal chromosome anomalies, comprising 37 aneuploidies

SUBMITTER: Liu Y 

PROVIDER: S-EPMC10858470 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature