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Pena-Shokeir syndrome: current management strategies and palliative care

Authors Adam S, Coetzee M, Honey EM

Received 31 May 2018

Accepted for publication 19 July 2018

Published 25 October 2018 Volume 2018:11 Pages 111—120

DOI https://doi.org/10.2147/TACG.S154643

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Amy Norman

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer


Sumaiya Adam,1 Melantha Coetzee,2 Engela Magdalena Honey3

1Department of Obstetrics and Gynaecology, Steve Biko Academic Hospital, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa; 2Division of Neonatology, Department of Pediatrics and Child Health, Steve Biko Academic Hospital, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa; 3Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Sciences, University of Pretoria, Pretoria, South Africa

Abstract: Pena–Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary hypoplasia. Antenatal ­diagnosis can be difficult. Ultrasound features are varied and may overlap with those of ­Trisomy 18. The poor prognosis of PSS is due to pulmonary hypoplasia, which is an important feature that distinguishes PSS from arthrogryposis multiplex congenital without pulmonary hypoplasia, which has a better prognosis. If diagnosed in the antenatal period, a late termination of pregnancy can be considered following ethical discussion (if the law allows). In most cases, a diagnosis is only made in the neonatal period. Parents of a baby affected with PSS require detailed counseling that includes information on the imprecise recurrence risks and a plan for subsequent pregnancies.

Keywords: fetal akinesia deformation sequence, ultrasound, comfort care

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