Evidence map›Paper›PMID 34265090›Full record

ArticlePrenatal diagnosis2022

Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.

Dayne L Filer, Piotr A Mieczkowski, Alicia Brandt, Kelly L Gilmore, Bradford C Powell, Jonathan S Berg, Kirk C Wilhelmsen, Neeta L Vora

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

8 authors.

Dayne L FilerDepartment of Genetics, School of Medicine, UNC Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-3443-5315
Piotr A MieczkowskiDepartment of Genetics, School of Medicine, UNC Chapel Hill, Chapel Hill, NC, USA.
Alicia BrandtDepartment of Genetics, School of Medicine, UNC Chapel Hill, Chapel Hill, NC, USA.
Kelly L GilmoreDepartment of Obstetrics & Gynecology, School of Medicine, UNC Chapel Hill, Chapel Hill, NC, USA.
Bradford C PowellDepartment of Genetics, School of Medicine, UNC Chapel Hill, Chapel Hill, NC, USA.
Jonathan S BergDepartment of Genetics, School of Medicine, UNC Chapel Hill, Chapel Hill, NC, USA.
Kirk C WilhelmsenDepartment of Genetics, School of Medicine, UNC Chapel Hill, Chapel Hill, NC, USA.
Neeta L VoraDepartment of Genetics, School of Medicine, UNC Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-2504-9455

Funding

UNC Predoc Training Progr in Bioinformatics/Comp BiologyT32GM067553 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ELSTON, TIMOTHY C · 2005 to 2019
$2.5M
Early Genomic DiagnosisK23HD088742 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI VORA, NEETA L · 2017 to 2020
$685k
Expanding the utility of prenatal genetic testingF30HD101228 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FILER, DAYNE LEWIS · 2019 to 2022
$121k
Eunice Kennedy Shriver National Institute of Child Health and Human Development F30HD101228Eunice Kennedy Shriver National Institute of Child Health and Human Development K23HD088742NICHD NIH HHS F30 HD101228NICHD NIH HHS K23 HD088742NIGMS NIH HHS 5T32GM067553NIGMS NIH HHS T32 GM067553
6 · The paper itself

Abstract

objectiveSequencing cell-free DNA now allows detection of large chromosomal abnormalities and dominant Mendelian disorders in the prenatal period. Improving upon these methods would allow newborn screening programs to begin with prenatal genetics, ultimately improving the management of rare genetic disorders.

methodsAs a pilot study, we performed exome sequencing on the cell-free DNA from three mothers with singleton pregnancies to assess the viability of broad sequencing modalities in a noninvasive prenatal setting.

resultsWe found poor resolution of maternal and fetal genotypes due to both sampling and technical issues.

conclusionWe find broad sequencing modalities inefficient for noninvasive prenatal applications. Alternatively, we suggest a more targeted path forward for noninvasive prenatal genotyping.

Indexed as

Cell-Free Nucleic AcidsExomeExome SequencingFemaleFetusHumansInfant, NewbornPilot ProjectsPregnancyPrenatal DiagnosisCell-Free Nucleic Acids

Identifiers

PMID34265090
PMCPMC8760355

What OpenQuestion holds

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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.