ReviewJournal of clinical medicine2014
Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects.
Review 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 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
16 citing papers in PubMed, 112 citations in OpenAlex.
- Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma.Frontiers in medicine · 2026Article
- Uptake rates for non-invasive prenatal screening for single-gene disorders associated with advanced paternal age.Journal of genetic counseling · 2025Article
- CRISPR/Cas-Based Prenatal Screening for Aneuploidy: Challenges and Opportunities for Early Diagnosis.Medicina (Kaunas, Lithuania) · 2025Review
- Efficiency of Non-Invasive Prenatal Testing in Detecting Fetal Copy Number Variation: A Retrospective Cohort Study.International journal of women's health · 2024Article
- The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review.International journal of reproductive biomedicine · 2022Review
- [Genetic testing and analysis of 2 cases of trisomy 11 mosaicism].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2022Article
- 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
- Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes.Molecular genetics & genomic medicine · 2020Article
- Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated.Prenatal diagnosis · 2020Article
- The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies.Molecular cytogenetics · 2018Article
- Fibroblast Growth Factor Receptor 2 (International journal of biological sciences · 2017Review
- Comparative evaluation of the Minimally-Invasive Karyotyping (MINK) algorithm for non-invasive prenatal testing.PloS one · 2017Article
- An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population.PloS one · 2015Article
- International regulatory landscape and integration of corrective genome editing into in vitro fertilization.Reproductive biology and endocrinology : RB&E · 2014Review
- Prenatal Screening Using Maternal Markers.Journal of clinical medicine · 2014Review
- Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations.Journal of medicine and lifeArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs to be identified in the presence of an excess of maternal DNA that contains the same mutation. In the future, simultaneous screening for multiple monogenic disorders is anticipated. Several NIPT methods have been developed to screen for trisomy. These have been shown to be effective for fetal trisomy 21, 18 and 13. Although the testing has been extended to sex chromosome aneuploidy, robust estimates of the efficacy are not yet available and maternal mosaicism for gain or loss of an X-chromosome needs to be considered. Using methods based on the analysis of single nucleotide polymorphisms, diandric triploidy can be identified. NIPT is being developed to identify a number of microdeletion syndromes including α-globin gene deletion. NIPT is a profoundly important development in prenatal care that is substantially advancing the individual patient and public health benefits achieved through conventional prenatal screening and diagnosis.
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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.