Evidence map›Paper›PMID 36360262›Full record

ArticleGenes2022

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.

Asra Almubarak, Dan Zhang, Mackenzie Kosak, Sarah Rathwell, Jasmine Doonanco, Alison J Eaton, Peter Kannu, Joanna Lazier, Monique Lui, Karen Y Niederhoffer and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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
1.5field-weighted citation impact, top 16% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Article
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 3 institutions in 1 country.

Asra AlmubarakDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
Dan ZhangDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.ORCID 0000-0002-9162-2563
Mackenzie KosakDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
Sarah RathwellWomen's and Children's Health Research Institute, University of Alberta, Edmonton, AB T6G 1C9, Canada.ORCID 0000-0003-3176-994X
Jasmine DoonancoMaternal Fetal Medicine Clinic, Royal Alexandra Hospital, Edmonton, AB T5H 3V9, Canada.
Alison J EatonDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.ORCID 0000-0002-0512-0429
Peter KannuDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
Joanna LazierRegional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Monique LuiMaternal Fetal Medicine Clinic, Royal Alexandra Hospital, Edmonton, AB T5H 3V9, Canada.
Karen Y NiederhofferDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
Melissa J MacPhersonDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
Melissa SorsdahlMaternal Fetal Medicine Clinic, Royal Alexandra Hospital, Edmonton, AB T5H 3V9, Canada.
Oana CaluseriuDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
University of Alberta · CARoyal Alexandra Hospital · CAChildren's Hospital of Eastern Ontario · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The introduction of next generation sequencing (NGS) technologies has revolutionized the practice of Medical Genetics, and despite initial reticence in its application to prenatal genetics (PG), it is becoming gradually routine, subject to availability. Guidance for the clinical implementation of NGS in PG, in particular whole exome sequencing (ES), has been provided by several professional societies with multiple clinical studies quoting a wide range of testing yields. ES was introduced in our tertiary care center in 2017; however, its use in relation to prenatally assessed cases has been limited to the postnatal period. In this study, we review our approach to prenatal testing including the use of microarray (CMA), and NGS technology (gene panels, ES) over a period of three years. The overall diagnostic yield was 30.4%, with 43.2% of those diagnoses being obtained through CMA, and the majority by using NGS technology (42% through gene panels and 16.6% by ES testing, respectively). Of these, 43.4% of the diagnoses were obtained during ongoing pregnancies. Seventy percent of the abnormal pregnancies tested went undiagnosed. We are providing a contemporary, one tertiary care center retrospective view of a real-life PG practice in the context of an evolving use of NGS within a Canadian public health care system that may apply to many similar jurisdictions around the world.

Indexed as

Genetic TestingHigh-Throughput Nucleotide SequencingCanadaExome SequencingFemaleHumansPregnancyRetrospective Studieschromosomal microarraygene panelgenetic testingnext generation sequencingpostnatalpregnancyprenatalwhole exome sequencing

Identifiers

PMID36360262
PMCPMC9690880
OpenAlexW4308198576

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.