title: Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma.
abstract: We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma. Previous studies were searched in the MEDLINE database using the following keywords: "prenatal" and "aneuploidy" and "noninvasive or non-invasive" and "maternal". Identified studies were filtered using a QUADAS instrument. Four studies were identified and analyzed using QUADAS. The studies included 4167 cases of Down syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 100% and specificity of 99.3%; There were 3455 cases of Edwards syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 97.4% and specificity of 99.95%. Therefore, noninvasive prenatal diagnosis can be used to identify abnormal chromosomes with high accuracy using free fetal DNA in the maternal plasma.
authors.affiliation: Department of Obstetrics, First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
authors.forename: H
authors.initials: H
authors.lastname: Yang
authors.affiliation: Department of Obstetrics, First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
authors.forename: H B
authors.initials: HB
authors.lastname: Xu
authors.affiliation: Department of Obstetrics, First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
authors.forename: T T
authors.initials: TT
authors.lastname: Liu
authors.affiliation: Department of Obstetrics, First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
authors.forename: X L
authors.initials: XL
authors.lastname: He
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics / Q000378:metabolism; D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005333:Fetus; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D000073842:Trisomy 18 Syndrome
chemical_list: D004247:DNA