title: Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review.
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.
authors.affiliation: Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.
authors.forename: Friederike
authors.initials: F
authors.lastname: Hoellen
authors.forename: Andreas
authors.initials: A
authors.lastname: Schröer
authors.forename: Katharina
authors.initials: K
authors.lastname: Kelling
authors.forename: Martin
authors.initials: M
authors.lastname: Krapp
authors.forename: Roland
authors.initials: R
authors.lastname: Axt-Fliedner
authors.forename: Ulrich
authors.initials: U
authors.lastname: Gembruch
authors.forename: Jan
authors.initials: J
authors.lastname: Weichert
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000000981:diagnostic imaging* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000000981:diagnostic imaging* / Q000473:pathology; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal