ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01966991 (DNAFirst), which is not on this map. Cited by 14 papers, 2 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.
DNAFirst: Primary Screening for Down Syndrome by Maternal Plasma DNA
Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.JAMA network open · 2023Pooled it
- Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Article
- Article
- Comparing Non-invasive Prenatal Testing With Invasive Testing for the Detection of Trisomy 21.Cureus · 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
- Multisite assessment of the impact of a prenatal testing educational App on patient knowledge and preparedness for prenatal testing decision making.Journal of community genetics · 2022Article
- A multivariate modeling method for the prediction of low fetal fraction before noninvasive prenatal testing.Science progress · 2021Article
- Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review.Children (Basel, Switzerland) · 2021Article
- Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment.Ontario health technology assessment series · 2019Article
- Genetic Counselors' Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians.Journal of genetic counseling · 2018Article
- Obstetrical provider knowledge and attitudes towards cell-free DNA screening: results of a cross-sectional national survey.BMC pregnancy and childbirth · 2018Article
- Recent developments in genetics and medically assisted reproduction: from research to clinical applications.European journal of human genetics : EJHG · 2018Review
- Recent developments in genetics and medically-assisted reproduction: from research to clinical applicationsHuman reproduction open · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the clinical utility of cell-free DNA (cfDNA)-based screening for aneuploidies offered through primary obstetrical care providers to a general pregnancy population.
methodsPatient educational materials were developed and validated and providers were trained. Serum was collected for reflexive testing of cfDNA failures. Providers and patients were surveyed concerning knowledge, decision making, and satisfaction. Pregnancy outcome was determined by active or passive ascertainment.
resultsBetween September 2014 and July 2015, 72 providers screened 2,691 women. The five largest participating practices increased uptake by 8 to 40%. Among 2,681 reports, 16 women (0.6%) were screen-positive for trisomy 21, 18, or 13; all saw genetic professionals. Twelve were confirmed (positive predictive value (PPV), 75%; 95% CI, 48-93%) and four were false-positives (0.15%). Of 150 failures (5.6%), 79% had a negative serum or subsequent cfDNA test; no aneuploidies were identified. Of 100 women surveyed, 99 understood that testing was optional, 96 had their questions answered, and 95 received sufficient information. Pretest information was provided by the physician/certified nurse midwife (55) or office nurse/educator (40); none was provided by genetic professionals.
conclusionThis first clinical utility study of cfDNA screening found higher uptake rates, patient understanding of basic concepts, and easy incorporation into routine obstetrical practices. There were no reported cases of aneuploidy among cfDNA test failures.Genet Med advance online publication 12 January 2017.
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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.