Evidence map›Paper›PMID 39205944›Full record

ArticleFrontiers in genetics2024

Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice.

Shiyu Sun, Yizhen Ji, Di Shao, Yasong Xu, Xiaomei Yang, Li Sun, Nan Li, Hui Huang, Qichang Wu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
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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

9 authors.

Shiyu Sun *Prenatal Diagnosis Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.
Yizhen Ji *Prenatal Diagnosis Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.
Di Shao *BGI Genomics, Shenzhen, China.
Yasong XuPrenatal Diagnosis Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.
Xiaomei YangPrenatal Diagnosis Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.
Li SunPrenatal Diagnosis Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.
Nan LiBGI Genomics, Shenzhen, China.
Hui HuangBGI Genomics, Shenzhen, China.
Qichang WuPrenatal Diagnosis Center, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study aimed to assess the efficiency of CNV-seq and WES in detecting genetic cause of congenital heart disease (CHDs) in prenatal diagnoses and to compare CNV detection rate between isolated and non-isolated CHD cases. We conducted a retrospective study of 118 Chinese fetuses diagnosed with CHD by prenatal ultrasound. Participants underwent CNV-seq and, if necessary, WES to detect chromosomal and single nucleotide variations. The overall detection rate for pathogenic or likely pathogenic chromosomal abnormalities was 16.9%, including 7.6% aneuploidies and 9.3% pathogenic/likely pathogenic copy number variations (CNVs), predominantly 22q11.2 deletion syndrome (54.4%). The sensitivity and specificity of CNV-Seq for detecting P/L

Indexed as

CHDchromosomal abnormalityCNV-seqprenatal diagnosisWES

Identifiers

PMID39205944
PMCPMC11349688

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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.