Analysis of the results of screening for carriers of monogenic genetic diseases in 604 couples of childbearing age
10.19405/j.cnki.issn1000-1492.2024.09.022
- VernacularTitle:604例育龄期夫妇单基因遗传病携带者筛查的结果分析
- Author:
Qianyun LI
1
,
2
;
Renhua WU
;
Yuanyuan ZHANG
;
Fang LIU
;
Weisheng CHENG
;
Jing YUAN
Author Information
1. 安徽医科大学第一附属医院产前诊断中心,合肥 230022
2. 国家卫生健康委配子及生殖道异常研究重点实验室,合肥 230022
- Keywords:
monogenic disease;
expanded carrier screening;
high throughput sequencing;
genetic counseling;
birth defects;
prenatal diagnosis;
second generation sequencing
- From:
Acta Universitatis Medicinalis Anhui
2024;59(9):1653-1658
- CountryChina
- Language:Chinese
-
Abstract:
Objective To understand the carrying situation and common variation of pathogenic genes of single gene hereditary disease in childbearing age population in Anhui province,to explore the establishment of clinical application network and referral model of carrier screening in Anhui province,and to explore the application value of expansible carrier screening(expanded carrier screening,ECS)in clinic.Methods Samples were collected from 604 individuals of childbearing age,all exhibiting a normal phenotype and a family history of inherited dis-ease.These samples were obtained during the first trimester or early stages of pregnancy(≤13+6 weeks).Based on high-throughput sequencing and special PCR analysis techniques,pathogenic variants associated with 220 disea-ses were detected,and related genes were detected in the spouses of positive carriers.Results As of May 16,2023,604 tested samples had been collected,and 340 carriers of the target disease had been detected;The posi-tive rate of pathogenic variation detection was 56.29％ ;A total of 499 pathogenic variants were detected,with each tested individual carrying 0-5 variants;216 cases,accounting for 35.76％ ,carried a single gene recessive dis-ease pathogenic variation,which was the most common.There were 95 cases carrying two types of single gene re-cessive genetic disease pathogenic variation,accounting for 15.73％ .As of now,302 couples have been reported,and a total of 7 high-risk couples have been found through screening,with a high-risk rate of 2.32％ .There are a total of 5 pairs with autosomal recessive genetic pattern(both spouses carry the same pathogenic gene),and 2 pairs with X-linked genetic pattern(the female carries the X-linked pathogenic gene).Conclusion In this study,we obtained the overall carrier and clinical application of target diseases as well as the carrier rates of causative genes of common single-gene genetic diseases in 604 subjects who underwent ECS testing,which could provide scientific guidance for the establishment of a clinical application network and referral model for carrier screening in Anhui Province.
- Full text:2024122421510064123604例育龄期夫妇单基因遗传病携带者筛查的结果分析_李倩贇.pdf
