ABSTRACT
OBJECTIVES: To analyze the aneuploidy risk and treatment outcome of prenatally diagnosed isolated clubfoot, to determine the false-positive rate (FPR) of ultrasound diagnosis and to calculate the risk of diagnostic revision to complex clubfoot. METHODS: By chart review, 65 patients were retrospectively ascertained to have unilateral or bilateral clubfeet diagnosed prenatally. We calculated the rates of false positives, aneuploidy and diagnostic revision to complex clubfoot, and used an ad hoc scoring system to determine orthopedic outcome. Published rates of aneuploidy were pooled and evaluated. RESULTS: Prenatally diagnosed isolated clubfoot FPR (defined as 1 - positive predictive value) was 10.5% (95% CI, 5.8-18%) (calculated per foot). After a minimum of 1-year postnatal follow-up, 13% (95% CI, 6-26%) of patients had revised diagnoses of complex clubfoot. No patients had aneuploidy identified by cytogenetic analysis or clinical assessment. Of the 34 patients with 2-year postnatal follow-up, 76.5% were treated with serial casting with or without Botox. All children with isolated clubfoot were walking and had an average outcome score of 'very good' to 'excellent'. CONCLUSIONS: When counseling women regarding prenatally diagnosed isolated clubfoot, it is important to tell them that approximately 10% of individuals will have a normal foot or positional foot deformity requiring minimal treatment. Conversely, 10-13% of prenatally diagnosed cases of isolated clubfoot will have complex clubfoot postnatally, based on the finding of additional structural or neurodevelopmental abnormalities. Although this study did not identify an increased risk of fetal aneuploidy associated with isolated clubfoot, a review of the literature indicates a risk of 1.7-3.6% with predominance of sex chromosome aneuploidy.
