Case report and discussion: pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome
Author(s)
Angwin, Chloe
Ghali, Neeti
van Dijk, Fleur Stephanie
Type
Journal Article
Abstract
Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an increased risk of arterial dissection and hollow organ rupture. In women with vEDS, pregnancy and childbirth carry significant risks of both morbidity and mortality. The Human Fertilisation and Embryology Authority has approved vEDS for pre-implantation genetic diagnosis (PGD), given the potential for life-limiting complications. PGD avoids implantation of embryos that are affected by specific disorders by carrying out genetic testing (either for a familial variant or whole gene) and selecting unaffected embryos prior to implantation.
Case: We present an essential clinical update to the only published clinical case of a woman with vEDS undergoing PGD with surrogacy, initially through stimulated in vitro fertilization (IVF) and in vitro maturation (IVM) and subsequently through natural IVF.
Discussion: In our experience, a subset of women with vEDS do wish to have biological, unaffected children through PGD despite being aware of the risks of pregnancy and delivery. Given the clinical heterogeneity in vEDS, these women could be considered on a case-by-case basis for PGD. Controlled studies with comprehensive patient monitoring evaluating the safety of PGD are essential to equitable healthcare provision.
Case: We present an essential clinical update to the only published clinical case of a woman with vEDS undergoing PGD with surrogacy, initially through stimulated in vitro fertilization (IVF) and in vitro maturation (IVM) and subsequently through natural IVF.
Discussion: In our experience, a subset of women with vEDS do wish to have biological, unaffected children through PGD despite being aware of the risks of pregnancy and delivery. Given the clinical heterogeneity in vEDS, these women could be considered on a case-by-case basis for PGD. Controlled studies with comprehensive patient monitoring evaluating the safety of PGD are essential to equitable healthcare provision.
Date Issued
2023-03-16
Date Acceptance
2023-03-02
Citation
Frontiers in Genetics, 2023, 14
ISSN
1664-8021
Publisher
Frontiers Media S.A.
Journal / Book Title
Frontiers in Genetics
Volume
14
Copyright Statement
Copyright © 2023 Angwin, Ghali and Stephanie van Dijk. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
License URL
Identifier
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000961740400001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=a2bf6146997ec60c407a63945d4e92bb
Subjects
Ehlers-Danlos syndrome
Genetics & Heredity
in vitro fertilization
Life Sciences & Biomedicine
pre-implantation genetic diagnosis
Science & Technology
surrogacy
VARIANTS
vascular
Publication Status
Published
Article Number
1147607
Date Publish Online
2023-03-16