First trimester diagnosis of split hand/foot by transvaginal ultrasound

First trimester high-frequency transvaginal ultrasonographic 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 probable 50% recurrence risk of this anomaly.

At 12 weeks' gestation, high-frequency transvaginal ultrasound examination revealed a fetus with biometry consistent with gestational age. Both hands appeared to have a single 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 'split-foot' appearance. Nuchal translucency thickness measured 1.0 mm. No additional abnormalities could be found. The child was born in good condition with the described split hand/foot malformation (SHFM).

This case report demonstrates prenatal sonographic diagnosis of SHFM in a first trimester fetus. In first trimester there can be several technical advantages and it shortens the period of uncertainty of the parents. Secondly it provides the option of early surgical termination of the pregnancy instead of induction of labour.