Value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening
10.3760/cma.j.issn.1008-6706.2022.05.020
- VernacularTitle:孕妇外周血中游离胎儿DNA检测对唐氏筛查高风险妊娠的诊断价值
- Author:
Jingmei LIU
1
;
Kaiyuan JIANG
;
Xia YANG
Author Information
1. 大同市第一人民医院检验科，大同 037000
- Keywords:
Sequence analysis,DNA;
Peripheral blood;
Fetal;
Down's screening;
Critical risk;
Pregnancy;
Amniocentesis - karyotype analysis;
Value studies
- From:
Chinese Journal of Primary Medicine and Pharmacy
2022;29(5):731-735
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening.Methods:A total of 1667 pregnant women who were at a higher risk of having a baby with Down's syndrome who received Down's syndrome screening in the First People's Hospital of Datong between January 2020 and March 2021 were prospectively analyzed. After detection of cell-free fetal DNA in maternal peripheral blood, pregnant women who were at a higher risk of having a baby with Down's syndrome decided whether to accept amniocentesis for fetal karyotype. Then follow-up was performed for collecting related information. Finally, detection results of cell-free fetal DNA in maternal peripheral blood, fetal karyotype results and pregnancy outcomes were analyzed.Results:The positive predictive value of detecting cell-free fetal DNA in maternal peripheral blood for trisomy 21, trisomy 18, and trisomy 13 and chromosome abnormality were 100.0%, 100.0%, 0.0% and 66.7%, respectively. The sensitivity and total specificity of detecting cell-free fetal DNA in maternal peripheral blood were 100.0% and 99.8%, respectively. The false positive rate of detecting cell-free fetal DNA in maternal peripheral blood for trisomy 13 and chromosome abnormality was 0.12% and 0.06%, respectively.Conclusion:A high degree of coincidence between detection results of cell-free fetal DNA in maternal peripheral blood and fetal karyotype results can be used as a prenatal screening for Down's syndrome. This has certain guiding significance for invasive prenatal diagnosis through amniocentesis-based fetal karyotype analysis.
