Evidence map›Paper›PMID 27807286›Full record

ArticleScience translational medicine2016

Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.

Chandni V Jain, Leena Kadam, Marie van Dijk, Hamid-Reza Kohan-Ghadr, Brian A Kilburn, Craig Hartman, Vicki Mazzorana, Allerdien Visser, Michael Hertz, Alan D Bolnick and 3 more

Open access · greenAbstract read
In one paragraph

Article in Science translational medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
16.3field-weighted citation impact, top 1% of its field
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

28 citing papers in PubMed, 54 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Review
  8. Genetics in prenatal diagnosis.Singapore medical journal · 2023
    Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Review
  15. Article
  16. Review
  17. Article
  18. Article
  19. Review
  20. Population genetic screening: current issues in a European country.European journal of human genetics : EJHG · 2019
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 2 institutions in 2 countries.

Chandni V JainDepartment of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Leena KadamDepartment of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Marie van DijkDepartment of Clinical Chemistry, VU University Medical Center, Amsterdam, Netherlands.
Hamid-Reza Kohan-GhadrDepartment of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Brian A KilburnDepartment of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Craig HartmanSafe and Sound for Women, 3131 La Canada Street, Las Vegas, NV 89169, USA.
Vicki MazzoranaSafe and Sound for Women, 3131 La Canada Street, Las Vegas, NV 89169, USA.
Allerdien VisserDepartment of Clinical Chemistry, VU University Medical Center, Amsterdam, Netherlands.
Michael HertzDepartment of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Alan D BolnickDepartment of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Rani FritzDepartment of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
D Randall ArmantDepartment of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Sascha DrewloDepartment of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA. sdrewlo@med.wayne.edu.
Wayne State University · USAmsterdam UMC Location VUmc · NL

Funding

DETROIT REPRODUCTIVE CAREER DEVELOPMENT RESEARCH CENTERK12HD001254 · NICHD · WAYNE STATE UNIVERSITY · PI HSU, CHAUR-DONG · 1999 to 2019
$4.8M
The Role of PPARγ in Human Placental Development and PreeclampsiaR01HL128628 · NHLBI · WAYNE STATE UNIVERSITY · PI DREWLO, SASCHA · 2015 to 2019
$1.9M
Genetic Analysis of Human First Trimester Trophoblast in Ongoing PregnanciesR21HD071408 · NICHD · WAYNE STATE UNIVERSITY · PI ARMANT, DAVID RANDALL, DIAMOND, MICHAEL PETER · 2012 to 2013
$406k
NHLBI NIH HHS R01 HL128628NICHD NIH HHS K12 HD001254NICHD NIH HHS R21 HD071408
6 · The paper itself

Abstract

Single-gene mutations account for more than 6000 diseases, 10% of all pediatric hospital admissions, and 20% of infant deaths. Down syndrome and other aneuploidies occur in more than 0.2% of births worldwide and are on the rise because of advanced reproductive age. Birth defects of genetic origin can be diagnosed in utero after invasive extraction of fetal tissues. Noninvasive testing with circulating cell-free fetal DNA is limited by a low fetal DNA fraction. Both modalities are unavailable until the end of the first trimester. We have isolated intact trophoblast cells from Papanicolaou smears collected noninvasively at 5 to 19 weeks of gestation for next-generation sequencing of fetal DNA. Consecutive matched maternal, placental, and fetal samples (n = 20) were profiled by multiplex targeted DNA sequencing of 59 short tandem repeat and 94 single-nucleotide variant sites across all 24 chromosomes. The data revealed fetal DNA fractions of 85 to 99.9%, with 100% correct fetal haplotyping. This noninvasive platform has the potential to provide comprehensive fetal genomic profiling as early as 5 weeks of gestation.

Indexed as

MutationCell-Free Nucleic AcidsDNA Mutational AnalysisFemaleFetusGenotypeGestational AgeHaplotypesHigh-Throughput Nucleotide SequencingHumansMicrosatellite RepeatsPlacentaPolymorphism, Single NucleotidePregnancyPregnancy Trimester, FirstPrenatal CareCell-Free Nucleic Acids

Identifiers

PMID27807286
PMCPMC9068205
OpenAlexW2546698177

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.