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Am J Obstet Gynecol. 2018 Dec;219(6):545-562. doi: 10.1016/j.ajog.2018.07.017. Epub 2018 Jul 23.

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.

Author information

1
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, Parkville, Australia.
2
Department of Obstetrics and Gynecology, University of Maryland St Joseph Medical Center, Towson, MD.
3
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD.
4
Department of Clinical Genetics, Guy's and St Thomas, National Health Service, London, United Kingdom.
5
Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA. Electronic address: Viviana.bompadre@seattlechildrens.org.
6
Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA; Department of Orthopedics and Sports Medicine, University of Washington, Seattle, WA.
7
Division of Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.
8
Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, South Korea.
9
Department of Radiology, Seattle Children's Hospital, Seattle, WA; Department of Radiology, University of Washington, Seattle, WA.
10
Department of Orthopedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.
11
Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY.
12
Department of Orthopedic Surgery, Boston Children's Hospital, Boston, MA.

Abstract

BACKGROUND:

Skeletal dysplasia comprises a heterogeneous and collectively common group of inherited disorders of development, growth, and maintenance of the human skeleton. There is potential for increased perinatal morbidity and mortality in pregnant women who themselves have skeletal dysplasia, and for affected fetuses where skeletal dysplasia is suspected in utero.

OBJECTIVE:

We sought to establish guidelines for perinatal health care professionals who should be aware of these risks, to optimize maternal and child health pregnancy outcomes through best prenatal and delivery management practices.

STUDY DESIGN:

A panel of 13 multidisciplinary international experts participated in a Delphi process, which comprised consideration of thorough literature review and a list of 54 possible care recommendations subject to 2 rounds of anonymous voting and a face-to-face meeting. Those recommendations with >80% agreement were considered as consensual.

RESULTS:

During the first round, consensus was reached to support 30 out of the 54 statements. After the panel discussion, the group reached consensus on 40 statements. These statements include guidelines for the evaluation and treatment of pregnant women with skeletal dysplasia and for the unborn child with or suspected to have skeletal dysplasia.

CONCLUSION:

Consensus-based best practice guidelines are provided as a minimum of standard care to minimize associated health risks, and improve clinical outcomes for patients with skeletal dysplasia.

KEYWORDS:

perinatal management; prenatal diagnosis; prenatal management; skeletal dysplasia

PMID:
30048634
DOI:
10.1016/j.ajog.2018.07.017

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