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REVIEW article

Front. Genet.
Sec. Genomic Assay Technology
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1447216

Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling

Provisionally accepted
Xin Chen Xin Chen *Qian Zhang Qian Zhang Man Lu Man Lu Qiuxia Feng Qiuxia Feng Litao Qin Litao Qin Shixiu Liao Shixiu Liao
  • Henan Provincial People's Hospital, Zhengzhou, China

The final, formatted version of the article will be published soon.

    The innovation in ultrasound has greatly promoted the prenatal diagnosis of ventricular septal defect.As a minor lesion of congenital heart disease, the prenatal genetic counseling of isolated ventricular septal defect faces some challenges, including the true genetic correlationship, selection of appropriated testing methods to identify deleterious mutations, and avoidance of overdiagnosis and overintervention. Researchers have explored the prenatal diagnosis efficiency of commonly used cytogenetic and molecular genetic technologies. Small insertions/deletions and monogenic variants with phenotypic heterogeneity play important role and contribute to the comprehend of pathogenesis.Isolated ventricular septal defect fetuses without genetic finding and extracardiac structural abnormality generally have good pregnancy outcome. Long-term follow-up data is needed to describe the comprehensive map, such as the potential missed diagnosis especially late-onset syndromes, the impact on the quality of life and life expectancy. When conducting prenatal genetic counseling, strict adherence to ethical principles is needed to ensure that the rights of all parties involved are fully protected. Clinicians should carefully evaluate the risks and benefits and provide parents with sufficient information and advice to enable them to make informed decisions.

    Keywords: Isolated Ventricular Septal Defect, Prenatal Diagnosis, Genetic Counseling, Pregnancy Outcome, molecular genetic technologies Cheng, K., Zhou, H., Fu, F., Lei, T., Li, F., Huang, R., et al. (2022). Should prenatal

    Received: 11 Jun 2024; Accepted: 20 Sep 2024.

    Copyright: © 2024 Chen, Zhang, Lu, Feng, Qin and Liao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Xin Chen, Henan Provincial People's Hospital, Zhengzhou, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.