ArticleJournal of clinical medicine2014
Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins.
Article in Journal of clinical medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.
- Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.The Cochrane database of systematic reviews · 2017Pooled it
- Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2016Trial
- ISUOG Practice Guidelines (updated): role of ultrasound in twin pregnancy.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2025Article
- Article
- Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.Molecular genetics & genomic medicine · 2024Review
- Prenatal diagnosis of sex chromosome aneuploidy-What do we tell the prospective parents?Prenatal diagnosis · 2023Review
- Incidental finding of maternal malignancy in an unusual non-invasive prenatal test and a review of similar cases.Clinical case reports · 2022Article
- Application of ultrasound combined with noninvasive prenatal testing in prenatal testing.Translational pediatrics · 2022Article
- Development and performance evaluation of an artificial intelligence algorithm using cell-free DNA fragment distance for non-invasive prenatal testing (aiD-NIPT).Frontiers in genetics · 2022Article
- Non-invasive prenatal testing in the management of twin pregnancies.Prenatal diagnosis · 2021Review
- Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology.Current issues in molecular biology · 2021Article
- Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China.Frontiers in genetics · 2021Article
- Review
- Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China.Journal of assisted reproduction and genetics · 2020Article
- Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCAdvances in laboratory medicine · 2020Article
- Assessing aneuploidy with repetitive element sequencing.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Prenatal detection and evaluation of differences of sex development.Journal of pediatric urology · 2020Article
- Fetal fraction and noninvasive prenatal testing: What clinicians need to know.Prenatal diagnosis · 2020Review
- Non-invasive prenatal screening for Emanuel syndrome.Molecular cytogenetics · 2020Article
- Non-invasive prenatal test to screen common trisomies in twin pregnancies.Molecular cytogenetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-invasive prenatal testing (NIPT) by random massively parallel sequencing of maternal plasma DNA for multiple pregnancies is a promising new option for prenatal care since conventional non-invasive screening for fetal trisomies 21, 18 and 13 has limitations and invasive diagnostic methods bear a higher risk for procedure related fetal losses in the case of multiple gestations compared to singletons. In this study, in a retrospective blinded analysis of stored twin samples, all 16 samples have been determined correctly, with four trisomy 21 positive and 12 trisomy negative samples. In the prospective part of the study, 40 blood samples from women with multiple pregnancies have been analyzed (two triplets and 38 twins), with two correctly identified trisomy 21 cases, confirmed by karyotyping. The remaining 38 samples, including the two triplet pregnancies, had trisomy negative results. However, NIPT is also prone to quality issues in case of multiple gestations: the minimum total amount of cell-free fetal DNA must be higher to reach a comparable sensitivity and vanishing twins may cause results that do not represent the genetics of the living sibling, as described in two case reports.
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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.