Fetal arthrogryposis—what do we tell the prospective parents?

Abstract

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. Key pointsWhat's already known about this topic? � Arthrogryposis, also termed multiple congenital contractures, and fetal akinesia are often missed prenatally, but can be detected by ultrasound early when looked for.� The etiology is extremely heterogeneous. There are a number of challenges for achieving a definite diagnosis during pregnancy and appropriately counsel parents for prognosis and management. What does this review add?� This review serves as an update for prenatal providers who are charged with detecting, diagnosing and counseling on congenital contractures and/or fetal akinesia prenatally. � This article is not a substitute for interdisciplinary expert opinion, consultation and counseling in the individual patient or family. | INTRODUCTIONCongenital contractures in the newborn are not rare, ranging from 1/ 100 to 1/200 for some type of single contracture such as clubfoot and hip dislocation or multiple congenital contractures. The presence of multiple congenital contractures is generally termed arthrogryposis. Arthrogryposis, also called arthrogryposis multiplex congenita (AMC), or now referred to as multiple congenital contractures (MCC), is a descriptive term for conditions of a highly heterogeneous etiology, which may lead to or be associated with MCC as a clinical sign. 1,2 MCC, however, may have specific patterns of limb involvement and/or additional clinical signs pointing to the underlying etiology or even a specific diagnosis. The prognosis may substantially differ depending on the etiology. For pregnancy and family counseling the 798