ArticleAnnals of translational medicine2019
Clinical features and pregnancy outcomes of women with abnormal cell-free fetal DNA test results.
Article in Annals of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.Molecular genetics & genomic medicine · 2020Pooled it
- Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.PloS one · 2025Article
- Evaluation of the clinical utility of NIPT-plus and analysis of adverse pregnancy outcomes.Archives of gynecology and obstetrics · 2024Article
- Non-invasive prenatal test findings in 41,819 pregnant women: results from a clinical laboratory in southern China.Archives of gynecology and obstetrics · 2023Review
- Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.Journal of clinical laboratory analysis · 2023Article
- Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype.Frontiers in genetics · 2022Article
- Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China.Frontiers in genetics · 2022Article
- Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases.BMC medical genomics · 2021Article
- Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases.Molecular cytogenetics · 2021Article
- Prenatal Diagnostic Testing Following High-Risk Result from Serological Screening: Which Shall We Select?International journal of women's health · 2021Article
- Cell-free DNA Testing in Routine Practice: Characterisation of a Cohort with Positive Results for Trisomies, Sex Chromosome Anomalies and Microdeletions.Geburtshilfe und Frauenheilkunde · 2021Article
- Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China.Frontiers in medicine · 2021Article
- The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results.International journal of genomics · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis study was performed to examine the factors affecting attitudes regarding prenatal diagnosis and clinical treatment by analyzing the clinical data of women with positive noninvasive prenatal testing (NIPT) results.
methodsWe collected clinical data for women with positive NIPT results. The women received prenatal genetic consultation. The women with true positive results received prenatal genetic counseling again, and decided whether to continue or terminate their pregnancy.
resultsA total of 228 women received positive NIPT results. The prenatal diagnosis was accepted in 174 cases (76.3%), and 124 women were confirmed to have true positive NIPT results. The positive predictive values (PPV) of T21/T18/T13 and fetal sex chromosome aneuploidy were 88.4% and 42.9%, respectively. All (99/99, 100%) of the women with T21/T18/T13 terminated their pregnancies, while 25.0% (6/24) of women with fetal SCA continued their pregnancies. An NIPT result of Chr(9) microduplication was obtained in one woman, which was confirmed by chromosomal microarray analysis (CMA).
conclusionsNIPT exhibited good detection accuracy for T21/T18/T13, and also contributed to identifying fetal SCA and substructural chromosomal abnormalities. With a positive NIPT result, the attitudes of pregnant women regarding prenatal diagnosis and clinical treatment are related to the severity of disease, cognitive ability, and the level of prenatal genetic counseling.
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