甘肃地区育龄夫妇基因扩展性携带者筛查研究

Preliminary Study on Expanded Carrier Screening of Couples of Childbearing Age in Gansu

目的:探讨甘肃地区育龄夫妇单基因遗传病携带情况,为对高危家庭进行遗传咨询与产前诊断提供依据。方法:回顾性分析2021年1月—2023年12月在甘肃省妇幼保健院就诊的887对育龄夫妇,采用目标区域捕获二代测序技术进行100种单基因隐性遗传病扩展性携带者筛查(expanded carrier screening,ECS)。有3个家系的母亲于妊娠18~21周抽取羊水15 mL进行产前基因诊断。结果:在887对育龄夫妇中检出31对高风险夫妇,其中25对常染色体隐性遗传病高风险夫妇,6对X连锁隐性遗传病高风险夫妇。在1774人(887对夫妻)中,678人为常染色体隐性遗传病携带者。高风险夫妇中GJB2基因携带率最高,其次为PAH基因与CFTR基因。有3对高风险夫妇妊娠期进行了产前诊断,1对夫妇因胎儿为囊性纤维化患儿选择了终止妊娠;另两对夫妇分别因胎儿为携带者和野生型表型选择继续妊娠,2例生后新生儿表型均正常。结论:育龄夫妇进行ECS有助于实施精准的产前诊断及生育指导,对降低出生缺陷有重要意义。

Objective:To investigate the carrier status of monogenic genetic diseases in couples of childbearing age in Gansu,and to carry out genetic counseling and prenatal diagnosis for high-risk families.Methods:A total of 887 couples of childbearing age who were recruited in Gansu Province Maternity and Child Care Hospital from January 2021 to December 2023 were included.Expanded carrier screening(ESC)for 100 single-gene recessive genetic diseases were detected by the target region capture-NGS detection technology.When the mothers of the three families were pregnant,15 mL of amniotic fluid was drawn at 18-21 weeks of pregnancy for prenatal genetic diagnosis.Results:Among 887 couples of childbearing age,31 high-risk couples were detected,of which 25 couples were at high risk of autosomal recessive genetic disease and 6 couples were at high risk of X-linked recessive genetic disease.Of the 1774 persons(887 couples),678 cases were carriers of autosomal recessive genetic diseases.The prevalence of GJB2 gene was the highest in high-risk couples,followed by PAH gene and CFTR gene.Among the 31 positive couples,3 couples underwent prenatal diagnosis during pregnancy.One case was a fetus with cystic fibrosis,and the couple′s family chose to terminate the pregnancy.One case was a carrier and one case wild type,their neonatal phenotypes were normal.Conclusions:ECS for couples of childbearing age is helpful to implement the accurate prenatal diagnosis and fertility guidance,which is of great significance in reducing birth defects.