Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non-Isolated Clubfoot?

ABSTRACT:

Objective

The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing.

Methods

We conducted a retrospective cohort study in the North-West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 weeks of gestation from 2007 to 2021. We included isolated cases, defined as no additional structural anomalies on the initial targeted ultrasound. Rapid aneuploidy testing, chromosomal microarray analysis, and/or exome sequencing were performed via invasive testing following on parental request.

Results

We identified 423 cases of isolated clubfoot. The diagnosis changed to prenatal non-isolated clubfoot during prenatal follow-up in

SUBMITTER: de Vries JM 

PROVIDER: S-EPMC12819926 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature