ArticleMolecular cytogenetics2020
Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.
Article in Molecular cytogenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Diagnostic accuracy of cell-free DNA-based non-invasive prenatal testing for fetal aneuploidies: a systematic review.Frontiers in genetics · 2026Pooled it
- Cell-free DNA screening for sex chromosome aneuploidy in 67,099 pregnancies: A retrospective analysis.Journal of medical screening · 2026Article
- Global burden and health inequalities of sex chromosomal DSDs (1990-2021): a GBD 2021 analysis.International urology and nephrology · 2026Article
- Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies.Molecular cytogenetics · 2026Article
- Analysis of diagnostic consistency rate and pregnancy outcomes in pregnant women with high-risk NIPT undergoing transabdominal amniocentesis.American journal of translational research · 2026Article
- A fuzzy sequencer for rapid DNA fragment counting and genotyping.Nature biomedical engineering · 2025Article
- Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening.Journal of genetic counseling · 2025Article
- Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health.Cell genomics · 2024Article
- Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.Journal of personalized medicine · 2024Article
- Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study.BMC pregnancy and childbirth · 2023Article
- Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance.Journal of genetic counseling · 2023Article
- Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?Diagnostics (Basel, Switzerland) · 2022Article
- Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.Diagnostics (Basel, Switzerland) · 2022Article
- A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X.Journal of clinical medicine · 2022Article
- Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies.BMC pregnancy and childbirth · 2022Article
- Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.Medicina (Kaunas, Lithuania) · 2022Article
- Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.Frontiers in genetics · 2022Article
- Liquid biopsy: state of reproductive medicine and beyond.Human reproduction (Oxford, England) · 2021Review
- Towards improved genetic diagnosis of human differences of sex development.Nature reviews. Genetics · 2021Review
- Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases.Molecular cytogenetics · 2021Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNon-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited.
methodsHigh-throughput massively parallel genomic sequencing (MPS) technique was used to screen for fetal SCAs as part of the research to determine the potential value of NIPT in detecting fetal SCAs in the second trimester. A number of 12,243 consecutive cases from a single center were included in this study.
resultsThe positive predictive value (PPV) of NIPT in the present study was 57.6%, which was divided and categorized by individual SCAs as follows: 21.4% for Turner syndrome (45,X), 75.0% for Triple X syndrome (47,XXX), 90.9% for Klinefelter syndrome (47,XXY), and 75.0% for XYY syndrome (47,XYY).
conclusionThe NIPT-based SCA test cannot be used as a diagnostic method, and performing an invasive confirmation test on NIPT-based SCA-positive cases is strongly recommended.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.