Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita
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MATERNAL-FETAL MEDICINE
Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita Brit Busack1 · Claus‑Eric Ott2 · Wolfgang Henrich3 · Stefan Verlohren3 Received: 2 April 2020 / Accepted: 29 September 2020 © The Author(s) 2020
Abstract Purpose Fetal 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. Methods This 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. Results Pregnancy 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. Conclusion In 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. Keywords Prenatal diagnosis · AMC · FADS · Fetal anomalies · Hydrops
Introduction 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 * Stefan Verlohren [email protected] 1
Department of Gynecology and Obstetrics, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany
2
Department of Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany
3
Department of Obstetrics, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany
[4, 13, 18]. The underlying etiology comprises 300–400 disease entities. The contractures are all present at birth, can be diagnosed by prenatal ultrasound, and usually do not aggravate during life if consequent physiotherapy is applied cons
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