Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study.

ABSTRACT:

Background

There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to explore the molecular etiology of fetal TE and examine the detection rate by CMA, which provides more information for the clinical screening and genetic counseling of TE.

Methods

In this retrospective study, pregnancies diagnosed with fetal TE were enrolled and clinical data for all cases were retrieved from our medical record database, including demographic data for pregnancies, ultrasound findings, karyotype/CMA results, and pregnant and perinatal outcomes.

Results

Among the 164 patients, 17 (10.4%) clinically significant variants were detected by CMA. In 148 singleton

SUBMITTER: Huang R 

PROVIDER: S-EPMC9498837 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature