临床难题：加拿大旧秩序门诺派人群中，羊水过多是胎儿遗传综合征的标志物。

Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population.

机构信息

London Heatlh Sciences Centre, London, ON; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Schulich School of Medicine and Dentistry, Western University, London, ON.

London Heatlh Sciences Centre, London, ON; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON.

出版信息

J Obstet Gynaecol Can. 2022 Jul;44(7):798-802. doi: 10.1016/j.jogc.2022.01.011. Epub 2022 Feb 4.

DOI:10.1016/j.jogc.2022.01.011

PMID:35131504

Abstract

A 35-year-old woman was referred to genetics for 2 soft markers but was also found to have polyhydramnios. The couple were Old Order Mennonite, and carrier testing allowed for targeted investigation of syndromes associated with polyhydramnios in this population. Both parents were carriers of a 7304 bp deletion in the STRADA (LYK5) gene, causing an autosomal recessive syndrome of polyhydramnios, megalencephaly, and symptomatic epilepsy. This led to early recognition and treatment of neonatal seizures. Targeted testing can significantly shorten the diagnostic odyssey and decrease the cost of investigations, an especially important consideration for families who do not accept health insurance.

摘要

一位 35 岁女性因存在 2 个软指标而被转介至遗传科，同时还发现存在羊水过多。这对夫妇是旧秩序门诺会教徒，通过携带者检测，可以针对该人群中与羊水过多相关的综合征进行有针对性的调查。父母双方均携带 STRADA（LYK5）基因中的 7304bp 缺失，导致常染色体隐性遗传的羊水过多、巨脑症和症状性癫痫综合征。这导致新生儿癫痫的早期识别和治疗。针对性检测可以显著缩短诊断过程并降低检查费用，对于不接受医疗保险的家庭来说，这是一个特别重要的考虑因素。