Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers.

ABSTRACT:

Background

Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers.

Methods

Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis.

Results

Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with th

SUBMITTER: Cai M 

PROVIDER: S-EPMC7802188 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature