Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family

The purpose of this study was to evaluate the possibility of early diagnosis of Jarcho-Levin syndrome by ultrasound examination of the fetus. Over a period of 5 years, nine women from one Arab family, known to carry an autosomal recessive form of the disease, were prospectively and repeatedly examined using ultrasound. Out of eight pregnancies, four fetuses were diagnosed as being affected by the disease as early as 12 gestational weeks. Three elected to terminate the pregnancy before viability and one was born at term. There were no misdiagnoses. We conclude that early prenatal ultrasonographic diagnosis of Jarcho-Levin syndrome is feasible, although later sonographic confirmation is often warranted.