ArticleJournal of clinical medicine2019
Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy.
Article in Journal of clinical medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Association of zygosity and chorionicity with anatomical distribution of congenital malformations in twin pregnancies.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Article
- Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance.Pregnancy (Hoboken, N.J.) · 2025Article
- Donor-Derived Cell-Free DNA in Pancreas-Kidney, Heart-Kidney, and Liver-Kidney Multiorgan Transplant Recipients (MOTR).Transplant international : official journal of the European Society for Organ Transplantation · 2025Article
- The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS).International journal of women's health · 2025Article
- Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing.PloS one · 2025Article
- Cell-free DNA screening in twin pregnancies.Obstetrics & gynecology science · 2024Article
- Clinical Experience with Noninvasive Prenatal Testing in Twin Pregnancy Samples at a Single Center in Germany.Journal of laboratory physicians · 2023Article
- Editorial: Unravelling the basis of non-invasive prenatal screening results.Frontiers in genetics · 2023Article
- Positive predictive value of a single nucleotide polymorphism (SNP)-based NIPT for aneuploidy in twins: Experience from clinical practice.Prenatal diagnosis · 2022Article
- Non-invasive Prenatal Testing in Pregnancies Following Assisted Reproduction.Current genomics · 2022Review
- Clinician-reported chorionicity and zygosity assignment using single-nucleotide polymorphism-based cell-free DNA: Lessons learned from 55,344 twin pregnancies.Prenatal diagnosis · 2022Article
- Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.Scientific reports · 2022Article
- Non-invasive prenatal screening for fetal triploidy using single nucleotide polymorphism-based testing: Differential diagnosis and clinical management in cases showing an extra haplotype.Prenatal diagnosis · 2022Review
- Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review.Frontiers in pediatrics · 2022Review
- Non-invasive prenatal testing in the management of twin pregnancies.Prenatal diagnosis · 2021Review
- Twin anemia polycythemia sequence in dichorionic diamniotic twins: A case report and review of the literature.Clinical case reports · 2021Article
- Observational
- Clinical performance of DNA-based prenatal screening using single-nucleotide polymorphisms approach in Thai women with singleton pregnancy.Molecular genetics & genomic medicine · 2020Article
- Cell-free DNA fetal fraction in twin gestations in single-nucleotide polymorphism-based noninvasive prenatal screening.Prenatal diagnosis · 2020Article
Corrections and comments
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Authors and funding
24 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We analyzed maternal plasma cell-free DNA samples from twin pregnancies in a prospective blinded study to validate a single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) for zygosity, fetal sex, and aneuploidy. Zygosity was evaluated by looking for either one or two fetal genome complements, fetal sex was evaluated by evaluating Y-chromosome loci, and aneuploidy was assessed through SNP ratios. Zygosity was correctly predicted in 100% of cases (93/93; 95% confidence interval (CI) 96.1%-100%). Individual fetal sex for both twins was also called with 100% accuracy (102/102; 95% weighted CI 95.2%-100%). All cases with copy number truth were also correctly identified. The dizygotic aneuploidy sensitivity was 100% (10/10; 95% CI 69.2%-100%), and overall specificity was 100% (96/96; 95% weighted CI, 94.8%-100%). The mean fetal fraction (FF) of monozygotic twins (
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