Prenatal diagnosis of distal arthrogryposis type 1

Abstract

A 23-year-old woman, gravida 1 parity 0, was referred for routine ultrasound examination at 23 weeks gestation. Fetal anatomy was normal. However, both hands demonstrated clasped thumbs without extension. Repeated ultrasound examination verified the bilateral hands posture. The position of the hands did not change following sound stimulation. The child was diagnosed as distal arthrogryposis type 1. Prenatal counselling by the pediatric orthopedic surgeon, geneticist and gynecologist, was provided, to inform the parents on the probable outcome of the fetus and the hands. The parents were advised to continue with the pregnancy. A 1,975-g healthy boy was delivered by spontaneous vaginal delivery. Neonatal examination confirmed the prenatal diagnosis of arthrogryposis type 1. Following reconstructive surgery the child functions well with both his hands.