Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.

ABSTRACT:

Background

There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome.

Methods

In this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our prenatal diagnostic center from 2016 to 2021. We systematically reviewed clinical data from these cases, including indications for invasive testing, sonographic findings, QF-PCR results, chromosomal microarray analysis results, and pregnancy outcomes.

Results

In this study, the common ultrasound features were ventricular septal defect (37.5%), intrauterine growth retar

SUBMITTER: Huang R 

PROVIDER: S-EPMC9238061 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature