Arthrogryposis: a review and approach to prenatal diagnosis

Congenital contractures are a common ultrasound finding. Arthrogryposis, defined as multiple contractures involving more than one area of the body, is not a specific diagnosis but rather a description of clinical findings. It is associated with more than 300 different disorders, many of which have other associated malformations and/or neurocognitive delay. Lack of fetal movement or akinesia commonly accompanies the contractures. The underlying diagnosis may be the result of a neurogenic or myopathic process, a connective tissue disorder, intrauterine compression, a teratogenic exposure or vascular insult. When a patient presents with arthrogryposis, the challenge for obstetricians is to assess the fetal condition, associated abnormalities and family history to offer the most accurate counseling and diagnosis. A multidisciplinary approach incorporating obstetrics, genetics, pediatric neurology, and fetopathology is warranted. Prenatal diagnostic testing options are available. Postnatal evaluation by pediatric specialists is important and offers enhanced diagnostic capabilities and recurrence risk counseling. We present an organized approach to the prenatal assessment of arthrogryposis as well as recommendations for intrapartum and postpartum care.

Obstetricians & Gynecologists, Family Physicians

After completing this CME activity, physicians should be better able to define arthrogryposis and identify a classification framework to approach prenatal diagnosis, develop a differential diagnosis for a fetus who demonstrates arthrogryposis, formulate an action plan for prenatal diagnosis and assess the importance of a multidisciplinary approach to counseling and care when a fetus is identified to have arthrogryposis.