The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy

Abstract

Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.

Summary points

Main topics

• In this study, we conducted a large clinical study of 3776 pregnant Vietnamese women to assess chromosomal aberrations using copy number variation sequencing (CNV-seq).

Results

• Among 3776 pregnant women with abnormal ultrasound findings, 448 (11.86%) had chromosomal aberrations. Out of these cases, 274 (7.26%) were found to have chromosomal aneuploidies while 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Moreover, our analysis established correlations between chromosomal aberrations and various phenotypic markers.

Conclusion

• This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.

Keywords: :

• aneuploidies
• chromosomal aberrations
• clinical anomalies
• copy number variation sequencing
• pregnant Vietnamese women

Author contributions

Study concept and design: H Giang, H-S Tang, PMD, H-N Nguyen; obtaining funding: NHN, HG; Data acquisition: D-C Tran, D-A Nguyen, QT Le, DT Thi Hoang, TNT, TM Thi Ha, TL Dinh, CC Nguyen, KP Thi Doan, LA Thi Luong, TS Vo, TH Nhat Trinh, VT Nguyen, TT Thi Do, Q-T Thi Nguyen, D-K Truong; laboratory work: H-T Thi Dao, P-A Ngoc Vo, Y-N Nguyen, M-A Dinh; Data analysis: H-T Thi Dao, H-D Luu Nguyen, MN Phan, P-L Doan, TH Nhat Trinh, H-S Tang, MDP, H Giang. Drafting the manuscript: PMD, D-C Tran and MN Phan; critical revision of the manuscript for intellectual content: PMD, H Giang. All authors contributed to and approved the final manuscript.

Financial disclosure

Gene Solutions, Vietnam funded this study. The funder did not have any role in the study design, data collection, analysis, publishing decision, or manuscript preparation. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Competing interests disclosure

The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Writing disclosure

No writing assistance was utilized in the production of this manuscript.

Data availability statement

The data supporting this study's findings are available from the corresponding authors, (HST, HG), upon reasonable request.

Ethics statements

The ethics and scientific committee of the University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam, approved this study (Approval number: 164/HDDD). The study complied with the guidelines set by the University of Medicine and Pharmacy, Ho Chi Minh City, for managing the human genetic data of all participants. All written informed consent forms were collected from the study participants after a session of genetic counselling and with their agreement.

Acknowledgments

We thank all patients who participated in this study and gave consent to report findings in this paper. We thank A Jansen of Angela Jansen & Associates, for her editorial services in preparing the manuscript for publication.

Additional information

Funding

Gene Solutions, Vietnam funded this study. The funder did not have any role in the study design, data collection, analysis, publishing decision, or manuscript preparation. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.