Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Mol Genet Genomic Med. 2020 Aug;8(8):e1311. doi: 10.1002/mgg3.1311. Epub 2020 Jun 1.
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).
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.
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.
斯特格勒综合征是一种胶原疾病，可影响多个器官系统。其特征为眼部异常、听力损失、面中部发育不全、高活动度和关节异常。受影响者的斯特格勒综合征表型表达可能存在差异。由于斯特格勒综合征是一种胶原疾病，因此可能会出现与其他胶原疾病报告的类似的妊娠并发症。据我们所知，文献中仅有一例关于斯特格勒综合征患者妊娠和分娩管理的病例报告。
方法/病例报告：一位 37 岁的初产妇，被诊断为斯特格勒综合征，在妊娠 9 周时因产前遗传咨询就诊。26 岁时，患者因视网膜格子状变性行预防性激光治疗。32 岁时，她被发现携带 COL2A1 基因 c.1527 G>T 变异杂合子，该变异与眼部异常和常染色体显性遗传的斯特格勒综合征相关。随后，她希望对家族性变异进行产前诊断检测。患者表示结果将影响妊娠管理。在妊娠 16 周时进行了羊膜穿刺术。结果未发现母体 COL2A1 变异。核型正常（46,XX）。
一个多学科团队采用以患者为中心的方法，包括妇产科、眼科、母胎医学和遗传学，确定无阴道分娩禁忌证。在 39 周时，患者自然阴道分娩，无并发症。
胶原疾病，尤其是斯特格勒综合征患者的母婴结局数据有限。本病例强调了产前准确基因诊断的重要性，并为治疗斯特格勒综合征患者的医生提供了信息。
