Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies

Abstract

Objective: To examine the detection rate of clinically significant chromosomal microarray analysis (CMA) results in singleton pregnancies with clubfoot.

Methods: Data from all CMA tests in singleton pregnancies with sonographic diagnosis of clubfoot (talipes equinovarus) performed between January 2013 and September 2017 were retrospectively obtained from the Israeli Ministry of Health computerized database. The rates of clinically significant CMA results in fetuses with clubfoot were compared to the general population risk, based on a local cohort of 5541 pregnancies with no major sonographic anomalies.

Results: Of the 5750 CMA tests, a total of 269 (4.7%) were performed due to demonstration of fetal clubfoot. Of the 229 cases with isolated deformity, nine (3.9%) clinically significant CMA results were detected. This detection rate is significantly increased compared to the control population (RR 2.7 (95% CI 1.4-5.0)). In the 40 pregnancies with non-isolated clubfoot, seven (17.5%) clinically significant CMA results were detected, a significantly higher frequency compared to the control population and to isolated clubfoot cases.

Discussion: Sonographic diagnosis of clubfoot, whether isolated or associated with additional sonographic defects, increases the risk for abnormal CMA findings. Thus, CMA analysis, in conjunction with thorough sonographic anatomic survey, should be recommended in such pregnancies.

Keywords: CMA; Chromosomal aberrations; Chromosomal microarray analysis; Clubfoot; Talipes equinovarus.