Journal article

Publication year: 2011

Pages: 289-298

Journal: Fetal Diagnosis and Therapy

Volume number: 30

Issue number: 4

ISSN: 1015-3837

eISSN: 1421-9964

DOI Link: https://doi.org/10.1159/000331401

Publisher: Karger Publishers

Abstract: 
Objective: To elaborate the antenatal sonographic findings of fetuses with the suspicion of fetal akinesia, thereby focusing on the accuracy of prenatal differentiation between subtypes of fetal akinesia, namely Pena-Shokeir phenotype (PSP) and arthrogryposis multiplex congenita (AMC). Methods: We herein present our experience of 21 patients with PSP and AMC diagnosed antenatally at a tertiary prenatal referral center. During the study period 30,485 consecutive high- and low-risk pregnancies were examined. The prenatal sonograms, pediatric charts and autopsy data of affected individuals were reviewed. Our findings were analyzed together with findings retrieved from the literature. Results: The diagnosis of AMC has been established between 12+0 and 30+1 gestational weeks, whereas cases found to have PSP were all diagnosed in advanced pregnancy. In accordance to previous findings, our data suggest that pulmonary hypoplasia is obligatory in PSP and cannot be found in AMC. Therefore, all pregnancies (9/9) affected by PSP were terminated on parental request. Of those fetuses with AMC, 3/12 were liveborn, 2 of which have neuromotoric disabilities. Conclusions: Establishing the correct prenatal diagnosis of PSP and AMC at an early stage and its diligent prognostic evaluation play a crucial role in order to provide adequate advice to the afflicted parents and to enable appropriate intervention at an early stage. Copyright (C) 2011 S. Karger AG, Basel

Harvard Citation style: Hoellen, F., Schroeer, A., Kelling, K., Krapp, M., Axt-Fliedner, R., Gembruch, U., et al. (2011) Arthrogryposis Multiplex Congenita and Pena-Shokeir Phenotype: Challenge of Prenatal Diagnosis - Report of 21 Cases, Antenatal Findings and Review, Fetal Diagnosis and Therapy, 30(4), pp. 289-298. https://doi.org/10.1159/000331401

APA Citation style: Hoellen, F., Schroeer, A., Kelling, K., Krapp, M., Axt-Fliedner, R., Gembruch, U., & Weichert, J. (2011). Arthrogryposis Multiplex Congenita and Pena-Shokeir Phenotype: Challenge of Prenatal Diagnosis - Report of 21 Cases, Antenatal Findings and Review. Fetal Diagnosis and Therapy. 30(4), 289-298. https://doi.org/10.1159/000331401