Evidence map›Paper›PMID 36292129›Full record

ArticleDiagnostics (Basel, Switzerland)2022

Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.

Angel H W Kwan, Xiaofan Zhu, Maria Mar Gil, Yvonne K Y Kwok, Isabella Y M Wah, Annie S Y Hui, Yuen-Ha Ting, Kwok-Ming Law, Doris Lau, Shuwen Xue and 4 more

Abstract read
In one paragraph

Article in Diagnostics (Basel, Switzerland), 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. Cell-free DNA test for fetal chromosomal abnormalities in multiple pregnancies.Acta obstetricia et gynecologica Scandinavica · 2024
    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

14 authors.

Angel H W KwanDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.ORCID 0000-0002-4140-6651
Xiaofan ZhuDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Maria Mar GilObstetrics and Gynecology Department, Hospital Universitario de Torrejón Torrejón de Ardoz, 28850 Madrid, Spain.ORCID 0000-0002-9993-5249
Yvonne K Y KwokDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Isabella Y M WahDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.ORCID 0000-0003-4586-6054
Annie S Y HuiDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.ORCID 0000-0001-5042-4731
Yuen-Ha TingDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Kwok-Ming LawDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Doris LauXcelom Ltd., Hong Kong, China.
Shuwen XueDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Kwong-Wai ChoyDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.ORCID 0000-0002-3616-6200
Daljit SahotaDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Tak-Yeung LeungDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Liona C PoonDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.ORCID 0000-0002-3944-4130

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study aimed to compare the screening performance of genome-wide cfDNA testing for chromosomal abnormalities between two periods where additional findings were reported and not reported. Data were obtained from consecutive pregnant women with a singleton pregnancy at ≥10 weeks who requested cfDNA testing during 2015-2019. The performance of screening of the cfDNA test was determined by calculating the concordance rate, detection rate, and false-positive rate. Data from 3981 women were included. The no-result rates were similar between the two reporting periods (2.04% vs. 2.08%). Concordance rates for trisomy 21 and 18 were 100% and 100%, respectively. There were two cases tested high risk for trisomy 13, with a concordance rate of 0%. In total, 12 cases were high risk for any sex chromosome aneuploidy with an overall concordance of 75%, and 15 cases tested high risk for any rare autosomal trisomy, with a 13.3% concordance rate. The detection rates for trisomy 21 and 18 were 100% and 100%, respectively. For any SCA, the detection rate was 90%. For the two reporting periods, the combined false-positive rates were 0.93% and 0.17%, which were significantly different (

Indexed as

additional findingscell-free DNAdown syndromegenome-widescreening for trisomiesscreening performance

Identifiers

PMID36292129
PMCPMC9600475

What OpenQuestion holds

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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.