Purpose: Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk.
Methods: We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies.
We report a rare case of isolated congenital absence of the bilateral femur diagnosed antenatally in an 18-19 weeks fetus on a level II scan. The bilateral femur bones were not visualized with normal bilateral tibia and fibula. The fetus was followed with a routine growth scan at 32-33 weeks along with a fetal MRI, which showed similar findings.
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