Pregnancy management in a patient with stickler syndrome

Abstract

Background Stickler syndrome is a collagen disorder that can affect multiple organ systems. It is characterized by ocular abnormalities, hearing loss, midfacial hypoplasia, hypermobility, and joint abnormalities. The phenotypic expression of Stickler syndrome can vary among those affected. Since Stickler syndrome is a collagen disorder, it is possible to expect pregnancy complications similar to those reported in other collagen disorders. To our knowledge, there is only one case report in the literature on the management of pregnancy and delivery of a patient with Stickler syndrome. Methods/Case Report A 37‐year‐old primigravid woman with a diagnosis of Stickler syndrome presented at 9 weeks gestation for prenatal genetic consultation. At 26, the patient had prophylactic laser therapy for lattice degeneration of the retina. At 32, she was found to be heterozygous for the c.1527 G>T variant in the COL2A1 gene, which is associated with ocular abnormalities and autosomal dominant form of Stickler syndrome. Subsequently, she desired to pursue prenatal diagnostic testing for the familial variant. The patient voiced that the results would impact pregnancy management. Amniocentesis was performed at 16 weeks gestation. Results were negative for the maternal COL2A1 variant. Karyotype was normal (46, XX). Results A multidisciplinary team using a patient‐centered approach including obstetrics, ophthalmology, maternal‐fetal medicine, and genetics determined that there were no contraindications for vaginal delivery. At 39 weeks, the patient underwent spontaneous vaginal delivery with no complications. Conclusion There is a paucity of data available regarding the maternal outcomes of women affected with collagen disorders, especially Stickler Syndrome. This case highlights the importance of accurate genetic diagnosis in the prenatal period and provides information to physicians caring for patients with Stickler syndrome.

Anesthetic Management of a Cesarean Section for Preeclampsia in a Parturient With Stickler Syndrome: A Case Report

“…Although penetrance is high, the clinical picture outside the eye is highly variable [1]. Since Stickler syndrome is a connective tissue disease, it is thought to increase the risk of preterm premature rupture of membranes and an incompetent cervix, leading to preterm delivery [5].…”

In the Right Place, at the Right Time: Autobiographical Case Report of an Ophthalmologist Who Had a Rhegmatogenous Retinal Detachment

“…Prior survey studies reported that some obstetricians advocate for assisted delivery via cesarean section or instrumental delivery instead of spontaneous vaginal delivery for patients who have a history of RRD repair [2,3]. However, several studies in the literature suggest that no correlation exists between RD and labor or spontaneous vaginal delivery [4][5][6][7].…”