首页|甘肃地区育龄夫妇基因扩展性携带者筛查研究

甘肃地区育龄夫妇基因扩展性携带者筛查研究

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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1 774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。
Preliminary Study on Expanded Carrier Screening of Couples of Childbearing Age in Gansu
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 1 774 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.

Expanded carrier screeningMonogenic genetic diseasesGenetic counselingPrenatal diagnosisHigh-throughput nucleotide sequencing

刘芙蓉、张钏、周秉博、陈雪、田芯瑗、马盼盼、惠玲、郝胜菊

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730050 兰州,甘肃省妇幼保健院医学遗传中心,甘肃省出生缺陷与罕见病临床医学研究中心

扩展性携带者筛查 单基因遗传病 遗传咨询 产前诊断 高通量核苷酸序列分析

兰州市科技计划项目兰州市科技计划项目甘肃省科技计划资助项目国家科技资源共享服务平台计划项目

2023-2-612021-1-18222YF7FA094YCZYPT[2020]05-03

2024

10.12280/gjszjk.20240121

国际生殖健康/计划生育杂志
天津市医学科学技术信息研究所

国际生殖健康/计划生育杂志

CSTPCD
影响因子：0.694
ISSN：1674-1889
年,卷(期)：2024.43(4)
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