国际生殖健康/计划生育杂志2024，Vol.43Issue(4)：293-297,5.DOI:10.12280/gjszjk.20240121
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
摘要
Abstract
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.关键词
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Key words
Expanded carrier screening/Monogenic genetic diseases/Genetic counseling/Prenatal diagnosis/High-throughput nucleotide sequencing引用本文复制引用
刘芙蓉,张钏,周秉博,陈雪,田芯瑗,马盼盼,惠玲,郝胜菊..甘肃地区育龄夫妇基因扩展性携带者筛查研究[J].国际生殖健康/计划生育杂志,2024,43(4):293-297,5.基金项目
兰州市科技计划项目(2023-2-61,2021-1-182) （2023-2-61,2021-1-182）
甘肃省科技计划资助项目(22YF7FA094) （22YF7FA094）
国家科技资源共享服务平台计划项目(YCZYPT[2020]05-03) （YCZYPT[2020]05-03）
