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ORIGINAL RESEARCH article

Front. Genet.
Sec. Molecular Cytogenetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1517270

Improving Prenatal Diagnosis with Combined Karyotyping, CNV-seq and QF-PCR: A Comprehensive Analysis of Chromosomal Abnormalities in High-Risk Pregnancies

Provisionally accepted
Jia-Pei Liu Jia-Pei Liu Shanbing Wang Shanbing Wang *Li Luo Li Luo Ya-Mei Guo Ya-Mei Guo
  • Second People’s Hospital of Yibin, Yibin, China

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

    Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.:This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis from February 2023 to August 2024, with amniotic fluid samples concurrently analyzed using karyotyping, CNV-seq, and QF-PCR. We evaluated clinical characteristics, diagnostic yields, and inter-method concordance rates. Longitudinal follow-up assessed pregnancy outcomes and neonatal phenotypes, with particular emphasis on cases demonstrating diagnostic 字体: (默认)Times New Roman, (中文) 宋体, 四号 设置格式[geek]: To assess the diagnostic effectiveness of combining chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies. 删除[geek]: 字体: (默认)Times New Roman, (中文) 宋体, 四号 设置格式[geek]: This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis between February 2023 and August 2024. Amniotic fluid samples were subjected to concurrent karyotyping, CNV-seq and QF-PCR analysis. 删除[geek]: uncertain variants.

    Keywords: Chromosomal abnormalities, Prenatal Diagnosis, Karyotyping, CNV-seq, QF-PCR, High-risk pregnancy, Copy Number Variations

    Received: 25 Oct 2024; Accepted: 27 Dec 2024.

    Copyright: © 2024 Liu, Wang, Luo and Guo. 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: Shanbing Wang, Second People’s Hospital of Yibin, Yibin, 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.