A 25-year-old, second gravida woman was referred to the fetal medicine clinic at 19 weeks’ gestation for a fetal skin biopsy. Her first baby was a home delivery and had abnormally thick, rough skin and expired on day 2 of life. Two previous ultrasound scans in this pregnancy at 16 weeks and 18 weeks were reported to be normal. On repeating the ultrasound, we saw clenched fists, contractures of toes, and minimal fetal movement with stiff limbs in a semi-flexed position. A 3-dimensional (3D) scan showed thick pouting lips, flat nasal bridge, distal contractures of the toes with incurving, clenching of fingers, and flattened ears (Figure 1). Taking into account the history of consanguinity, a previous baby with a skin disorder, and these ultrasound findings, the parents were counseled and after deliberation, they opted for termination of the pregnancy. A postnatal examination confirmed the features seen on 3D ultrasound (Figure 1). The fetus showed facial dysmorphism, clenched fists, and contractures of the toes of both limbs. A histopathologic examination of the skin biopsies (from the fetal forearm, trunk, lower limbs, and buttocks) revealed marked orthokeratotic hyperkeratosis with a granular layer.
Four years later, the woman conceived again and consulted us at 18 weeks’ gestation. Unfortunately, even in this pregnancy, the fetus on 2D and 3D ultrasound was found to have similar features (Figure 2) as observed in her last pregnancy; therefore, after counseling, the pregnancy was terminated. Post-natal examination of the fetus corroborated the findings seen on the 3D scan (Figure 2).
