Evidence map›Paper›PMID 39502218›Full record

ArticleHeliyon2024

Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.

Haoqing Zhang, Xinglan He, Yuankun Wang, Caiyun Li, Hongguo Jiang, Shuai Hou, Dongqun Huang, Wenqian Zhang, Jufang Tan, Xiaoyun Du and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Heliyon, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
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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

15 authors.

Haoqing ZhangCenter of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, 423000, China.
Xinglan HeDepartment of Dermatology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yuankun WangBGI Genomics, Shenzhen, 518083, China.
Caiyun LiCenter of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, 423000, China.
Hongguo JiangBGI Genomics, Shenzhen, 518083, China.
Shuai HouCenter of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, 423000, China.
Dongqun HuangCenter of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, 423000, China.
Wenqian ZhangBGI Genomics, Shenzhen, 518083, China.
Jufang TanCenter of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, 423000, China.
Xiaoyun DuClin Lab, BGI Genomics, Wuhan, 730074, China.
Yinli CaoCenter of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, 423000, China.
Danjing ChenCenter of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, 423000, China.
Haiying YanCenter of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, 423000, China.
Lingling PengThe Chenzhou Affiliated Hospital, Department of Gynecology and Obstetrics, Hengyang Medical School, University of South China, Hengyang, Hunan, 421001, China.
Dongzhu LeiCenter of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, 423000, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Fetal structural anomalies are detected by ultrasound in approximately 3 % of pregnancies. Numerous genetic diagnostic strategies have been widely applied to identify the genetic causes of prenatal abnormalities. We aimed to assess the value of simultaneous copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) in diagnosing fetuses with structural anomalies. Methods: Fetuses with structural anomalies detected by ultrasound were included for eligibility. After genetic counseling, WES and CNV-seq were performed on DNA samples of fetuses and their parents. All detected variants were evaluated for pathogenicity according to ACMG criteria, with the final diagnosis was determined based on ultrasound results and relevant family history. Results: The diagnostic rate of 174 fetuses with prenatal ultrasound abnormalities was 26.44 %, higher than that achieved through either CNV or WES analysis alone. Furthermore, the highest diagnostic rate was observed in fetuses with multiple system anomalies, accounting for 50 % of the total diagnostic yield, followed by skeletal system anomalies at 45.45 %. Three cases with multiple system abnormalities were found to have a dual diagnosis of pathogenic CNVs and SNV variants, representing 1.72 % of the total cohort. 38 pregnant women in their third trimester of pregnancy (27 weeks+) participated in this study, and 23.68 % received a confirmed genetic diagnosis. Finally, 31 women (67.39 %) voluntarily terminated their pregnancy following the testing and extensive genetic counseling. Conclusions: Our study demonstrated that the simultaneous CNV-seq and WES analyses are beneficial for the molecular diagnosis of underlying unexplained structural anomalies in fetuses. This strategy is more efficient in elucidating prenatal abnormalities with compound problems, such as dual diagnoses. Furthermore, the simultaneous strategy has a shorter turnaround time and is particularly suitable for families with structural anomalies found in the third trimester of pregnancy.

Indexed as

Copy number variationFetal structural anomaliesPrenatal diagnosisTurnaround timeWhole-exome sequencing

Identifiers

PMID39502218
PMCPMC11535759

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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 Socratic graph.