ArticleMolecular cytogenetics2022
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review.
Article in Molecular cytogenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Article
- Article
- Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies.Molecular cytogenetics · 2026Article
- Repeat cell-free DNA screening after initial false-positive results and term placental analysis for confined mosaicism: a prospective cohort study.Archives of gynecology and obstetrics · 2025Article
- Transcervical, Transabdominal and Transvaginal Chorionic Villus Sampling for Prenatal Diagnosis in Zagreb, Croatia: A Prospective Single-Operator Study on 5500 Cases.Diagnostics (Basel, Switzerland) · 2025Article
- Accuracy and Safety of Late Chorionic Villus Sampling in High-Risk Pregnancies in 8599 Cases.Genes · 2025Article
- The evolution of prenatal Whole Exome Sequencing: from cytogenetics to precision medicine.Archive of clinical cases · 2025Review
- Review
- Noninvasive Prenatal Testing Test Versus Chorionic Villus Sampling, Where Are We Now?Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.BMC pregnancy and childbirth · 2024Article
- The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.Frontiers in genetics · 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
- Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases.Translational pediatrics · 2023Review
- Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines.Medicina (Kaunas, Lithuania) · 2022Review
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveSince 2011, noninvasive prenatal testing (NIPT) has undergone rapid expansion, with both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this testing tool are lacking. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations in order to inform pre- and post-test counseling, pre/perinatal decision making, and medical risk assessment/management.
methodsThis retrospective study included women referred for invasive prenatal diagnosis to confirm positive NIPT results between January 2017 and December 2020. Prenatal diagnosis testing, including karyotyping, chromosomal microarray analysis (CMA) were performed. Positive predictive values (PPVs) were calculated.
resultsIn total, 468 women were recruited. The PPVs for trisomies 21, 18, and 13 were 86.1%, 57.8%, and 25.0%, respectively. The PPVs for rare chromosomal abnormalities (RCAs) and copy number variants (CNVs) were 17.0% and 40.4%, respectively. The detection of sex chromosomal aneuploidies (SCAs) had a PPV of 20% for monosomy X, 23.5% for 47,XXX, 68.8% for 47,XXY, and 62.5% for 47,XYY. The high-risk groups had a significant increase in the number of true positive cases compared to the low- and moderate-risk groups.
conclusionsT13, monosomy X, and RCA were associated with lower PPVs. The improvement of cell-free fetal DNA screening technology and continued monitoring of its performance are important.
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