Fetal Diagnosis and Therapy
Preterm Premature Rupture of Membranes in a Patient with the Hypermobility Type of the Ehlers-Danlos SyndromeA Case Report aCenter for Medical Genetics, University Hospital Gent, and bUnité de Génétique Médicale, Université Catholique de Louvain, Belgium
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Article / Publication Details
Published online: July 15, 1999
Issue release date: July – August
Number of Print Pages: 4
Number of Figures: 0
Number of Tables: 0
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
Abstract
Objectives: This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the Ehlers-Danlos syndrome (EDS), a heritable disorder of connective tissue. Although various obstetrical complications have been reported in patients with EDS, most reports specifically comment on the severe complications in patients with the vascular type of EDS, including uterine and arterial rupture. Pregnancy outcome in patients presenting the hypermobility type of EDS is poorly documented. Case: A 33-year-old nullipara was referred for preconceptual genetic counseling with a history of easy bruising, generalized joint hypermobility and chronic arthralgia and myalgia. The diagnosis of the hypermobility type of EDS was confirmed on clinical examination. During her first pregnancy, she underwent a prophylactic McDonald cerclage at 14 weeks’ gestation. Premature rupture of membranes occurred at 23 weeks’ gestation. A female infant was delivered at 26 weeks and died 3 h after birth. Electron-microscopic examination showed collagen fibre abnormalities in the fetus’ skin, which were compatible with the diagnosis of EDS. Conclusions: Patients with the hypermobility type of EDS can have an increased risk for pregnancy complications, including prematurity due to cervical incompetence and to premature rupture of membranes. We therefore demand the clinician’s alertness for possible signs of this underdiagnosed type of EDS and recommend the collaboration between the obstetrician and the medical geneticist in the obstetrical management of these patients.
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External Resources
- Malak TM, Bell SC: Structural characteristics of term human fetal membranes: A novel zone of extreme morphological alteration within the rupture site. Br J Obstet Gynaecol 1994;101:375–386.
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Article / Publication Details
Published online: July 15, 1999
Issue release date: July – August
Number of Print Pages: 4
Number of Figures: 0
Number of Tables: 0
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
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