The significance of prenatally identified isolated clubfoot: is amniocentesis indicated?
OBJECTIVE
Our purpose was to determine the significance of finding an isolated clubfoot on a prenatal sonogram.


METHODS
All fetuses found to have an isolated congenital clubfoot over a 9-year period were retrospectively identified. Fetuses with associated anomalies were excluded. Review of medical records for obstetric and neonatal outcome and pathologic and cytogenic results were tabulated.


RESULTS
Eighty-seven fetuses were identified from our database as having isolated clubfoot on prenatal ultrasonography, with complete follow-up available for 68 fetuses. Sixty of the 68 fetuses were confirmed as having clubfoot after delivery (false-positive rate = 11.8%). The male/female ratio was 2:1. Four fetuses (5.9%) had abnormal karyotypes: 47,XXY, 47,XXX, trisomy 18, and trisomy 21. Nine fetuses had hip or other limb abnormalities noted after birth. Other anomalies not detected until delivery included a unilateral undescended testis, ventriculoseptal defects (n = 2), hypospadias (n = 2), early renal dysplasia, mild posterior urethral valves, and a two-vessel cord. Five of the 68 patients (including those with aneuploidy) had pregnancy terminations. Eleven patients were delivered preterm.


CONCLUSIONS
Karyotypic evaluation is recommended when isolated clubfoot is identified on prenatal sonogram because other subtle associated malformations may not be detected ultrasonographically in the early second trimester.
Shipp
T D
TD
Department of Obstetrics and Gynecology, Massachusetts General Hospital, Harvard Medical School, Boston, USA.
Benacerraf
B R
BR
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D003025:Clubfoot / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal