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Objective: Finding a bilateral ectrodactyly in association with an increased fetal nuchal translucency, with normal karyotype and genetic studies, binds to do an exhaustive study of all structural fetal anomalies, because although cardiac anomalies are the most frequent, isolated bilateral ectrodactyly can be found. Method: a 35-year-old woman who presents on the first trimester scan a fetal nuchal translucency thickness of 3.7 mm, and throughout gestation the only abnormal fetal finding is a bilateral ectrodactyly. Results: maternal serum serologies were negative and fetal karyotype was 46XX. The morphologic scan showed a little increased nuchal translucency thickness of 7.8 mm and bilateral ectrodactyly of the hands with absence of central fingers. Neonate’s evolution is normal until 2 years old. Conclusions: finding an increased fetal nuchal translucency on the first trimester scan raises the need to do an exhaustive study of fetal anatomy, including limbs.

Bilateral Ectrodactyly as an Isolated Deformity in a Chromosomally Normal Fetus with an Increased Nuchal Translucency Thickness