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Clinical effect of expanded non-invasive prenatal testing for serological screening of fetuses with high-risk for Down's syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1012-1016, 2021.
Article in Chinese | WPRIM | ID: wpr-921988
ABSTRACT
OBJECTIVE@#To investigate the clinical effect of expanded non-invasive prenatal testing (NIPT-plus) for serological screening of fetuses with high-risk for Down's syndrome.@*METHODS@#To retrospectively study the screening results, prenatal diagnosis and pregnancy outcomes of 1561 midterm pregnant women underwent NIPT-plus in our center from September 2018 to December 2019 due to serological screening with high-risk for Down's syndrome(≥ 1/270).@*RESULTS@#45 pregnant women had a high-risk with a detection rate of 2.88% (45/1561) of 1561 pregnant women who performed NIPT-plus. 40 pregnant women underwent invasive prenatal diagnosis and 20 cases were confirmed with a positive predictive value of 50.0% (20/40). Statistical analysis showed that NIPT-plus has a high detection rate for trisomy 21, sex chromosomal aneuploidy, and MMS in the 0.1/90 group, but with a positive predictive value lower than the other two groups.@*CONCLUSION@#The detection rate and PPVs of NIPT-plus in different groups of Down's high-risk pregnant women was different. NIPT-plus can reduce the pressure of prenatal diagnosis and can be used as a screening method for Down's syndrome with high risk in pregnant women.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Prenatal Diagnosis / Trisomy / Retrospective Studies / Down Syndrome / Fetus Type of study: Diagnostic study / Etiology study / Observational study / Prognostic study / Risk factors / Screening study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Prenatal Diagnosis / Trisomy / Retrospective Studies / Down Syndrome / Fetus Type of study: Diagnostic study / Etiology study / Observational study / Prognostic study / Risk factors / Screening study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article