Original Article
Value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening
Liu Jingmei, Jiang Kaiyuan, Yang Xia
Published 2022-05-15
Cite as Chin J Prim Med Pharm, 2022, 29(5): 731-735. DOI: 10.3760/cma.j.issn.1008-6706.2022.05.020
Abstract
ObjectiveTo investigate the value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening.
MethodsA 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.
ResultsThe 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.
ConclusionA 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.
Key words:
Sequence analysis,DNA; Peripheral blood; Fetal; Down's screening; Critical risk; Pregnancy; Amniocentesis - karyotype analysis; Value studies
Contributor Information
Liu Jingmei
Department of Laboratory Medicine, The First People's Hospital of Datong, Datong 037000, Shanxi Province, China
Jiang Kaiyuan
Department of Laboratory Medicine, The First People's Hospital of Datong, Datong 037000, Shanxi Province, China
Yang Xia
Department of Laboratory Medicine, The First People's Hospital of Datong, Datong 037000, Shanxi Province, China
