Kelly Fedoruk1, Karen Chong2, Mathew Sermer3, Jose C A Carvalho4,5. 1. Department of Anesthesia and Pain Management, Mount Sinai Hospital, 600 University Avenue, Room 19-103, Toronto, ON, M5G 1X5, Canada. 2. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada. 3. Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada. 4. Department of Anesthesia and Pain Management, Mount Sinai Hospital, 600 University Avenue, Room 19-103, Toronto, ON, M5G 1X5, Canada. jose.carvalho@uhn.ca. 5. Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada. jose.carvalho@uhn.ca.
Abstract
PURPOSE: We describe a case of a term parturient previously clinically diagnosed with hypermobility type Ehlers-Danlos syndrome (EDS) but later diagnosed with a genotype that may be associated with vascular type EDS. CLINICAL FEATURES: This 26-yr-old primigravida had been clinically diagnosed with hypermobility type EDS prior to her pregnancy. Nevertheless, subsequent genetic testing during pregnancy revealed a heterozygous variant of unknown significance in the COL3A1 gene causative for vascular type EDS. A multidisciplinary decision was made to prioritize the phenotype rather than the genotype in regard to clinical management of labour. An induced labour was planned with instrument-assisted vaginal delivery. We elected to proceed with placement of an epidural catheter for provision of labour analgesia and anesthesia during delivery. Both maternal and neonatal outcomes were excellent. CONCLUSION: The risk of severe morbidity and mortality in parturients with vascular EDS has warranted recommendations for modified management of labour, particularly regarding mode and timing of delivery. Nevertheless, a multidisciplinary approach and consideration of phenotype rather than genotype alone were instrumental in the successful management of this patient. Genetic testing of patients who display features of EDS and/or who have a positive family history of the disease is important in the preparation for labour and delivery. In the absence of convincing signs of vascular EDS and a negative family history, it may be rational to offer certain parturients neuraxial anesthesia and a trial of vaginal labour.
PURPOSE: We describe a case of a term parturient previously clinically diagnosed with hypermobility type Ehlers-Danlos syndrome (EDS) but later diagnosed with a genotype that may be associated with vascular type EDS. CLINICAL FEATURES: This 26-yr-old primigravida had been clinically diagnosed with hypermobility type EDS prior to her pregnancy. Nevertheless, subsequent genetic testing during pregnancy revealed a heterozygous variant of unknown significance in the COL3A1 gene causative for vascular type EDS. A multidisciplinary decision was made to prioritize the phenotype rather than the genotype in regard to clinical management of labour. An induced labour was planned with instrument-assisted vaginal delivery. We elected to proceed with placement of an epidural catheter for provision of labour analgesia and anesthesia during delivery. Both maternal and neonatal outcomes were excellent. CONCLUSION: The risk of severe morbidity and mortality in parturients with vascular EDS has warranted recommendations for modified management of labour, particularly regarding mode and timing of delivery. Nevertheless, a multidisciplinary approach and consideration of phenotype rather than genotype alone were instrumental in the successful management of this patient. Genetic testing of patients who display features of EDS and/or who have a positive family history of the disease is important in the preparation for labour and delivery. In the absence of convincing signs of vascular EDS and a negative family history, it may be rational to offer certain parturients neuraxial anesthesia and a trial of vaginal labour.