Fetal arthrogryposis-what do we tell the prospective parents?

Arthrogryposis, also termed arthrogryposis multiplex congenita, is a descriptive term for conditions with multiple congenital contractures (MCC). The etiology is extremely heterogeneous. More than 400 specific disorders have been identified so far, which may lead to or are associated with MCC and/or fetal hypo- and akinesia as a clinical sign. With improved sensitivity of prenatal ultrasound and expanding prenatal diagnostic options, clinicians are tasked with providing early detection in order to counsel the prospective parents regarding further prenatal diagnostic as well as management options. We summarize the most important knowledge to raise awareness for early detection in pregnancy. We review essential points for counseling when MCC is detected in order to provide answers to common questions, which, however, cannot replace interdisciplinary expert opinion in the individual case.

Automated summary

Arthrogryposis, or arthrogryposis multiplex congenita, is a term used to describe conditions with multiple congenital contractures. It has a diverse range of causes, with over 400 specific disorders identified so far. Early detection during pregnancy is important for counseling and management options, and we provide essential knowledge to increase awareness. However, interdisciplinary expert opinion is still necessary for individual cases.