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Arthrogryposis Multiplex Congenita and Pena-Shokeir Phenotype: Challenge of Prenatal Diagnosis - Report of 21 Cases, Antenatal Findings and Review.
MedLine Citation:
PMID:  22156407     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Friederike Hoellen; Andreas Schröer; Katharina Kelling; Martin Krapp; Roland Axt-Fliedner; Ulrich Gembruch; Jan Weichert
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-12-08
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  30     ISSN:  1421-9964     ISO Abbreviation:  -     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-12-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  -    
Other Details:
Languages:  ENG     Pagination:  289-298     Citation Subset:  -    
Copyright Information:
Copyright © 2011 S. Karger AG, Basel.
Affiliation:
Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.
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