ArticleLancet (London, England)2007
A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study.
Article in Lancet (London, England), 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01511458 (Non-invasive Chromosomal Examination of Trisomy), which is not on this map. Cited by 21 papers, 4 of them syntheses 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.
Non-invasive Chromosomal Examination of Trisomy
Who cites it
21 citing papers in PubMed, 4 syntheses or guidelines pooled it, 200 citations in OpenAlex.
- First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.The Cochrane database of systematic reviews · 2017Pooled it
- First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening.The Cochrane database of systematic reviews · 2017Pooled it
- Pooled it
- First trimester serum tests for Down's syndrome screening.The Cochrane database of systematic reviews · 2015Pooled it
- Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.Frontiers in genetics · 2022Article
- Current Overview of Osteogenesis Imperfecta.Medicina (Kaunas, Lithuania) · 2021Review
- Comparing the Efficiency of Three Protocols in Isolation of Cell Free Fetal DNA From Maternal Blood.Journal of family & reproductive health · 2017Article
- The IONA® Test: Development of an Automated Cell-Free DNA-Based Screening Test for Fetal Trisomies 13, 18, and 21 That Employs the Ion Proton Semiconductor Sequencing Platform.Fetal diagnosis and therapy · 2017Article
- Performance of Droplet Digital PCR in Non-Invasive Fetal RHD Genotyping - Comparison with a Routine Real-Time PCR Based Approach.PloS one · 2015Article
- Commercial landscape of noninvasive prenatal testing in the United States.Prenatal diagnosis · 2013Review
- Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA.Open biology · 2012Article
- Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications.Genome medicine · 2012Article
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- Article
- A new fetal RHD genotyping test: costs and benefits of mass testing to target antenatal anti-D prophylaxis in England and Wales.BMC pregnancy and childbirth · 2011Article
- Non-invasive prenatal detection of trisomy 21 using tandem single nucleotide polymorphisms.PloS one · 2010Article
- Contributions of pediatrics and pediatric pathology to the body of knowledge regarding human disease.Human pathology · 2010Review
- Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome.BJOG : an international journal of obstetrics and gynaecology · 2008Article
- Digital PCR for the molecular detection of fetal chromosomal aneuploidy.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUse of free fetal DNA to diagnose fetal chromosomal abnormalities has been hindered by the inability to distinguish fetal DNA from maternal DNA. Our aim was to establish whether single nucleotide polymorphisms (SNPs) can be used to distinguish fetal DNA from maternal DNA-and to determine the number of fetal chromosomes-in maternal blood samples.
methodsFormaldehyde-treated blood samples from 60 pregnant women and the stated biological fathers were analysed. Maternal plasma fractions were quantified at multiple SNPs, and the ratio of the unique fetal allele signal to the combined maternal and fetal allele signal calculated. The mean ratios of SNPs on chromosomes 13 and 21 were compared to test for potential fetal chromosomal abnormalities.
findingsThe mean proportion of free fetal DNA was 34.0% (median 32.5%, range 17.0-93.8). We identified three samples with significant differences in the fetal DNA ratios for chromosome 13 and chromosome 21, indicative of trisomy 21; the remaining 57 samples were deemed to be normal. Amniocentesis or newborn reports from the clinical sites confirmed that the copy number of fetal chromosomes 13 and 21 was established correctly for 58 of the 60 samples, identifying 56 of the 57 normal samples, and two of the three trisomy 21 samples. Of the incorrectly identified samples, one was a false negative and one was a false positive. The sensitivity and positive predictive value were both 66.7% (95% CI 12.5-98.2) and the specificity and negative predictive values were both 98.2% (89.4-99.9).
interpretationThe copy number of chromosomes of interest can be directly established from maternal plasma. Such a non-invasive prenatal test could provide a useful complement to currently used screening tests.
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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.