Application of high-resolution melting analysis of segmental duplication in the prenatal diagnosis of common trisomies
10.3760/cma.j.cn114452-20190807-00472
- VernacularTitle:相似序列高分辨熔解曲线技术在常见染色体三体产前诊断中的应用
- Author:
Wenyan XU
1
;
Qiwei GUO
;
Ping HU
;
Yuning ZHU
;
Xuemei ZHANG
;
Xinyi ZHENG
;
Haixia ZHANG
;
Yulin ZHOU
Author Information
1. 厦门大学公共卫生学院暨厦门市妇幼保健院分子遗传联合检测研究中心，厦门 361003
- From:
Chinese Journal of Laboratory Medicine
2020;43(7):745-750
- CountryChina
- Language:Chinese
-
Abstract:
Methods:A total of 1 152 amniotic fluid samples were collected from pregnant women who underwent prenatal diagnosis in the Nanjing Maternity and Child Health Care Hospital, Women′s Hospital School of Medicine Zhejiang University, West China Second University Hospital, Sichuan University/West China Women′s and Children′s Hospital, and Xiamen Maternal and Child Health Hospital from September 2014 to August 2016. These samples were examined with SD-HRM and karyotyping simultaneously. Clinical sensitivity and specificity of SD-HRM were calculated, and Kappa values were measured to evaluate the consistency of detection results of the two methods.Results:A total of 161 cases of trisomy 21, 60 cases of trisomy 18, and 5 cases of trisomy 13 were detected by SD-HRM in 1 152 prenatal samples, sensitivity and specificity were both up to 100%, and Kappa values is equal to 1 which were consistent with the results of karyotype analysis.Conclusion:SD-HRM is validated to be highly accurate for the prenatal diagnosis of common trisomies, which is promising in the clinical practice.
