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Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia
Ravi Savarirayan1, Judith P Rossiter2, Julie E Hoover-Fong3
1Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, Parkville, Australia.
Insights
This study provides consensus-based guidelines for managing skeletal dysplasia in pregnancy. These best practices aim to optimize outcomes for mothers and infants affected by these rare inherited skeletal disorders.
Area of Science:
- Perinatal medicine
- Genetics
- Skeletal biology
Background:
- Skeletal dysplasia is a common group of inherited disorders affecting skeleton development and maintenance.
- Pregnancy in women with skeletal dysplasia poses risks for both mother and fetus.
- Prenatal diagnosis of skeletal dysplasia requires specialized care and management.
Framework:
- A Delphi process involving 13 international experts was used to develop care recommendations.
- The process included literature review, anonymous voting, and face-to-face discussions.
- Recommendations achieving over 80% consensus were adopted.
Implementation:
- Consensus was reached on 40 care statements after two rounds of voting and discussion.
- Guidelines cover the evaluation and treatment of pregnant women with skeletal dysplasia.
- Guidelines address the management of fetuses with suspected or confirmed skeletal dysplasia.
Implications:
- Consensus-based guidelines offer a minimum standard of care for skeletal dysplasia.
- These guidelines aim to minimize health risks associated with skeletal dysplasia in pregnancy.
- Improved clinical outcomes for patients with skeletal dysplasia are expected through standardized care.
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.
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