Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies

Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies

ObjectiveThis 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.MethodsT...

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Bibliographic Details
Main Authors: Jia-pei Liu, Shan-Bing Wang, Li Luo, Ya-mei Guo
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
chromosomal abnormalities
prenatal diagnosis
karyotyping
CNV-seq
QF-PCR
high-risk pregnancy
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1517270/full
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