Evidence map›Paper›PMID 28345240›Full record

ReviewPrenatal diagnosis2018

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.

Ahmad N Abou Tayoun, Nancy B Spinner, Heidi L Rehm, Robert C Green, Diana W Bianchi

Open access · greenAbstract readReview
In one paragraph

Review in Prenatal diagnosis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 2 pooled it
15.4field-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

23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.

  1. Pooled it
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  13. Application of exome sequencing for prenatal diagnosis: a rapid scoping review.Genetics in medicine : official journal of the American College of Medical Genetics · 2020
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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

5 authors at 3 institutions in 1 country.

Ahmad N Abou TayounDivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and the Perelman School of Medicine at The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.ORCID 0000-0002-9134-1673
Nancy B SpinnerDivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and the Perelman School of Medicine at The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Heidi L RehmLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
Robert C GreenThe Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Diana W BianchiMother Infant Research Institute, Tufts Medical Center, Boston, MA, USA.ORCID 0000-0001-9270-5267
Broad Institute · USChildren's Hospital of Philadelphia · USTufts Medical Center · US

Funding

Sequence Analysis of Circulating Cell-free DNA During PregnancyZIAHG200400 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIANCHI, DIANA · 2018 to 2025
$524k
Intramural NIH HHS ZIA HG200400
6 · The paper itself

Abstract

Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography. Here, we provide an overview of these challenges and highlight the clinical utility, reporting, and counseling issues associated with prenatal DNA sequencing. Future considerations are also discussed. © 2017 John Wiley & Sons, Ltd.

Indexed as

Prenatal DiagnosisWhole Genome SequencingClinical Laboratory TechniquesFemaleGenetic CounselingHumansPregnancy

Identifiers

PMID28345240
PMCPMC10066604
OpenAlexW2600577057

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.