First trimester diagnosis of split hand/foot by transvaginal ultrasound

Objective/Method: First trimester high-frequency transvaginal ultrasonograp hic examination was performed in a 26-year-old gravida 2, para 1,diagnosed with tetramelic split hands and feet. The couple was informed about the pro bable 50% recurrence risk of this anomaly. Results: At 12 weeks' gestation, high-frequency transvaginal ultrasound examination revealed a fetus with b iometry consistent with gestational age, Both hands appeared to have a sing le digit at the ulnar side, On the site of the metacarpal bones, only three bones could be visualized. Both feet showed two digits, with a typical 'sp lit-foot' appearance, Nuchal translucency thickness measured 1.0 mm, No add itional abnormalities could be found. The child was born in good condition with the described split hand/foot malformation (SHFM). Conclusion: This ca se report demonstrates prenatal sonographic diagnosis of SHFM in a first tr imester fetus. In first trimester there can be several technical advantages and it shortens the period of uncertainty of the parents, Secondly it prov ides the option of early surgical termination of the pregnancy instead of i nduction of labour. Copyright (C) 2001 S. Karger AG, Basel.