Brit Busack1, Claus-Eric Ott2, Wolfgang Henrich3, Stefan Verlohren4. 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. Department of Obstetrics, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany. stefan.verlohren@charite.de.
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.
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.
Authors: Jill K Tjon; Gita M Tan-Sindhunata; Marianna Bugiani; Melinda M Witbreuk; Johannes A van der Sluijs; Marjan M Weiss; Laura A van de Pol; Mirjam M van Weissenbruch; Bloeme J van der Knoop; Johanna I de Vries Journal: Prenat Diagn Date: 2019-02-07 Impact factor: 3.050