Abstract
PurposeFetal arthrogryposis multiplex congenita (AMC) describes a heterogeneous disease entity characterized by multiple contractures affecting at least two different body areas. The aim of our study was to identify additional sonographic abnormalities in fetuses with AMC Type I–III associated with an unfavorable prognosis and to describe when those signs were first detected.MethodsThis retrospective study included 41 pregnancies of suspected AMC diagnosed 1999–2017 at our tertiary referral center. The affected pregnancies were divided into the 3 AMC subgroups; the time of detection and outcome were analyzed. Prenatal sonograms, pediatric charts, genetic tests, and autopsy reports were studied.ResultsPregnancy outcome data were verifiable in 34 out of 41 cases; in 27 cases, AMC was confirmed. Hydrops was present in 50% of postnatally deceased fetuses, 53% of cases resulting in termination of pregnancy vs. 0% of the surviving 8 children. Absent stomach filling was found in 67% of the children with neonatal death. After subcategorization, the limb-involvement-only-group, 8% showed hydrops vs. 100% in system anomaly group vs. 70% in neuromuscular dysfunction cohort (p = 0.001). Scoliosis, nuchal edema, and absent stomach filling were significantly indicating for a neurological etiology.ConclusionIn addition to disease-defining sonographic findings, those with prognostic significance were identified. Hydrops, nuchal edema, scoliosis and absent stomach filling were associated with unfavorable outcomes implicating a neuromuscular etiology. This knowledge can help to predict the further course of the disease and support patient counseling.
Highlights
Arthrogryposis multiplex congenita (AMC) is described by J.G
In the 5 children who deceased after birth one had Kniest dysplasia, the other suffered from maternal Anti-AChR-Antibodies, Pterygium syndrome, one AMC Type I and one had Nemaline myopathy
Severe AMC Type III in form of fetal akinesia deformation sequence” (FADS) was present in two subsequent pregnancies of a mother with asymptomatic Anti-AChR-antibodies
Summary
Arthrogryposis multiplex congenita (AMC) is described by J.G. Hall as a symptom complex consisting of contractures of the joints of at least two different body areas [5, 8].AMC (gr: arthron = joint, grypos = curved, multiplex = multiple, congenita = congenital, and -osis = disease without infection) occurs in 3000–5100 live births and is the descriptive term for a disease process that results in decreased fetal movement and subsequent joint stiffening [4, 13, 18]. Arthrogryposis multiplex congenita (AMC) is described by J.G. Hall as a symptom complex consisting of contractures of the joints of at least two different body areas [5, 8]. Moessinger first defined the term “fetal akinesia deformation sequence” (FADS) in 1983 when he showed that curarized fetal rats show reproducible anomalies like IUGR, contractures, retrognathia, lung hypoplasia, short umbilical cord, and polyhydramnios. He emphasized that normal fetal movement is mandatory for normal intrauterine development [1, 6]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
