Second Trimester Detection of Arthrogryposis Multiplex Congenita with Two-Dimensional Ultrasound

Arthrogryposis multiplex congenita (arthrogryposis) is a rare condition that describes multiple severe bony deformities and contractures in the newborn. Arthrogryposis has a prevalence of 1 in 3000, however, at least 1 in 200 neonates are born with some degree of joint contractures, the most common being talipes equinovarus (1 in 500) and congenital hip dislocation (1 in 200–500). In 2007 a case of arthrogryposis was diagnosed at a district general hospital at 17 weeks following a detailed scan due to a marginally raised maternal serum alphafetoprotein level. The pregnancy was terminated and a postmortem examination identified further underlying anomalies that may have been the cause of the arthrogryposis. This report assesses the value of prenatal ultrasound in the identification of arthrogryposis.