Evidence map›Paper›PMID 30072742›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution.

Amandine Moriot, Diana Hall

Erratum issuedAbstract read
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
  2. Noninvasive Prenatal Paternity Testing: A Review on Genetic Markers.International journal of molecular sciences · 2025
    Review
  3. Article
  4. Application of Y-STR, DIP-STR and SNP-STR Markers inIranian journal of public health · 2022
    Review
  5. Article
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors.

Amandine MoriotUnité de Génétique Forensique, Centre Universitaire Romand de Médecine Légale, Centre Hospitalier Universitaire Vaudois et Université de Lausanne, Lausanne, Switzerland.
Diana HallUnité de Génétique Forensique, Centre Universitaire Romand de Médecine Légale, Centre Hospitalier Universitaire Vaudois et Université de Lausanne, Lausanne, Switzerland. Diana.Hall@chuv.ch.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeWith the description of circulating fetal DNA in maternal blood, noninvasive prenatal diagnostics became theoretically possible. As the presence of background maternal DNA interferes with the detection of fetal DNA, analytical methods require genetic markers capable of distinguishing by quantitative or targeted approaches the minor population of DNA molecules of the fetus. Here we evaluate the feasibility of analyzing fetal DNA with novel DIP-STR genetic markers, designed for the investigation of forensic mixed biological evidence.

methodsThe DIP-STR molecular approach is based on sequence-specific analysis of paternally inherited fetal alleles. These sequences are biallelic deletion/insertion polymorphisms (DIPs) located very close to short tandem repeat (STR) markers, for combined analysis. In this study, 48 women were tested with 28 DIP-STRs during the first, second, and third trimester of pregnancy.

resultsPositive results were obtained across markers, including longer ones (386 base-pairs) and with blood samples collected during early pregnancy, such as 10 weeks of gestational age.

conclusionThese data show that DIP-STR markers can be used to amplify specific genomic regions of circulating fetal DNA to obtain targeted genetic information. This method may contribute to developments in noninvasive prenatal paternity testing and diagnosis of certain genetic diseases.

Indexed as

Cell-Free Nucleic AcidsPrenatal DiagnosisAllelesBiomarkersDNAFemaleFetusForensic GeneticsGene FrequencyGenetic MarkersGenotypeHumansINDEL MutationMicrosatellite RepeatsPaternal InheritancePolymorphism, GeneticBiomarkersCell-Free Nucleic AcidsDNAGenetic MarkersCell-free DNADIP-STRDNA mixtureNoninvasive prenatal testingPaternity testing

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Registered trials

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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.