TY - JOUR
T1 - Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia
AU - Skeletal Dysplasia Management Consortium
AU - Savarirayan, Ravi
AU - Rossiter, Judith P.
AU - Hoover-Fong, Julie E.
AU - Irving, Melita
AU - Bompadre, Viviana
AU - Goldberg, Michael J.
AU - Bober, Michael B.
AU - Cho, Tae Joon
AU - Kamps, Shawn E.
AU - Mackenzie, William G.
AU - Raggio, Cathleen
AU - Spencer, Samantha S.
AU - White, Klane K.
N1 - Funding Information:
Unrestricted funding for this meeting was graciously provided by BioMarin Pharmaceutical Inc, Alexion, Growing Stronger Foundation, Ultragenyx Pharmaceutical, Michael Goldberg Skeletal Dysplasia Fund, and Genzyme. Administrative support was provided by Judy Wiles and Shawna Spencer of Facet Communications.
Funding Information:
Disclosure: Dr Savarirayan is a consultant for BioMarin Pharmaceutical, Inc. and Alexion Pharmaceuticals. Dr Hoover-Fong is a paid consultant to BioMarin Pharmaceutical, Inc.–this arrangement has been reviewed and approved by the Johns Hopkins University in accordance with its conflict of interest policies. Dr Bober is a consultant for Ascendis Pharma and Biomarin Pharmaceutical, Inc.; on the speaker’s bureau for Alexion Pharmaceuticals; and is site principal investigator for Shire, Biomarin Pharmaceutical, Inc., Medlife Sciences, Osteogenesis Imperfecta Foundation, Growing Stronger Foundation, Walking with Giants Foundation, Potentials Foundation, and RhizoKids International. Dr Mackenzie belongs to the Little People of America Medical Advisory Board and MPS Medical Advisory Board and received an honorarium from BioMarin Pharmaceutical, Inc. Dr White receives consulting fees, speaker’s honoraria, travel reimbursement, and grant support from Biomarin Pharmaceutical Inc.; speaker’s honoraria and travel reimbursement from Genzyme; royalties from UpToDate.com ; and grant support from Alexion and Ultragenyx. The other authors have indicated they have no financial relationships or conflict of interests relevant to this article to disclose.
Publisher Copyright:
© 2018 Elsevier Inc.
PY - 2018/12
Y1 - 2018/12
N2 - 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.
AB - 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.
KW - perinatal management
KW - prenatal diagnosis
KW - prenatal management
KW - skeletal dysplasia
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U2 - 10.1016/j.ajog.2018.07.017
DO - 10.1016/j.ajog.2018.07.017
M3 - Review article
C2 - 30048634
AN - SCOPUS:85054699741
SN - 0002-9378
VL - 219
SP - 545
EP - 562
JO - American journal of obstetrics and gynecology
JF - American journal of obstetrics and gynecology
IS - 6
ER -