Structural and Chromosomal Abnormalities Associated With Clubfoot: A Cross-Sectional Analysis From a Tertiary Referral Center

Öz

Aim: Clubfoot, which may be associated with some chromosomal diseases or as a concomitant of congenital malformations, is one of the congenital anomalies that can be easily diagnosed prenatally by ultrasound. It occurs in 1 to 3 out of 1000 live newborns and is more common in males. In around half of cases, this malformation is bilateral. Material and Method: This study was designed as a retrospective cross-sectional study in which 32,256 pregnant women admitted to the perinatology clinic of Ankara Etlik City Hospital between September 2022 and June 2025 were retrospectively examined and clinical, demographic and genetic analyzes, concomitant anomalies, decisions to terminate pregnancy and postnatal follow-up data of pregnant women diagnosed with clubfoot were evaluated. Results: In 26 of 64 pregnancies (40%) the clubfoot was isolated, while in 38 (60%) other congenital anomalies were present at the same time. Chromosomal abnormalities (trisomy 13 and 18, triploidy, mosaic Turner syndrome) were found in five (16.6%) of 30 patients who underwent prenatal genetic diagnosis. In four of these cases, the pregnancy was terminated. In most of the isolated cases, no additional findings were detected on postnatal examination, and follow-up and treatment of these cases was performed by the orthopedic department. The most common associated system abnormality in complicated cases was central nervous system (CNS) abnormalities, followed by skeletal, and cardiovascular system abnormalities. Abnormalities of the gastrointestinal tract and urinary system were less frequently associated and were considered more incidental. Conclusion: Clubfoot is an easily detectable finding on routine prenatal ultrasound examination; however, its clinical significance increases when it is associated with abnormalities of other organ systems. Therefore, all systems should be thoroughly examined before considering a case as an isolated clubfoot.

Anahtar Kelimeler

• Birth defects
• clubfoot
• congenital anomalies
• pes equinovarus
• talipes equinovarus

Etik Beyan

This study was approved by the clinical research ethics committee of the University of Health Sciences Ankara Etlik City Hospital. Date: 31.01.2024, number: AEŞH-BADEK-2024-009.

Kaynakça

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