Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single‐center comparative study with karyotyping

CMA detected pathogenic CNVs that were missed by karyotyping, demonstrating its incremental value. However, karyotyping remains essential for identifying balanced chromosomal rearrangements. Our findings support the complementary use of CMA and karyotyping in prenatal diagnosis of fetuses with ≥2 cardiac soft markers, although larger prospective studies are warranted to validate these observations.

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Publication Details

Journal
International Journal of Gynecology & Obstetrics
Published
2026-03-09
DOI
https://doi.org/10.1002/ijgo.70935
Primary Topic
Prenatal Screening and Diagnostics
Type
article
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article

Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single‐center comparative study with karyotyping

K. Y. Wang, Lijuan Xu, Lixiang Fang, Hua Lin
International Journal of Gynecology & Obstetrics
Prenatal Screening and Diagnostics
article

Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single‐center comparative study with karyotyping

K. Y. Wang, Lijuan Xu, Lixiang Fang, Hua Lin
article en

Abstract

CMA detected pathogenic CNVs that were missed by karyotyping, demonstrating its incremental value. However, karyotyping remains essential for identifying balanced chromosomal rearrangements. Our findings support the complementary use of CMA and karyotyping in prenatal diagnosis of fetuses with ≥2 cardiac soft markers, although larger prospective studies are warranted to validate these observations.

International Journal of Gynecology & Obstetrics
Fujian Medical University (CN), Putian University (CN)
Zero hunger
Openalex Percentile: Top 29%
Prenatal Screening and Diagnostics
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