In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?

In the era of CNV-Seq, the target population for prenatal diagnosis is expanding. Combining CNV-Seq with karyotyping can increase the DRs of fetal chromosomal abnormalities. Therefore, combined testing is an efficient and relatively cost-effective prenatal diagnostic strategy.

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Publication Details

Journal
Frontiers in Medicine
Published
2025-12-17
DOI
https://doi.org/10.3389/fmed.2025.1610477
Primary Topic
Prenatal Screening and Diagnostics
Type
article
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In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?

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In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?

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article en

Abstract

In the era of CNV-Seq, the target population for prenatal diagnosis is expanding. Combining CNV-Seq with karyotyping can increase the DRs of fetal chromosomal abnormalities. Therefore, combined testing is an efficient and relatively cost-effective prenatal diagnostic strategy.

Frontiers in MedicineVol. 12
Luohe Medical College (CN)
Openalex Percentile: Top 50%
Prenatal Screening and Diagnostics
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