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Review
. 2025 Feb;39(4):e25154.
doi: 10.1002/jcla.25154. Epub 2025 Jan 21.

Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping

Chenxia Xu  1 , Yi Xiong  1 , Degang Wang  1 , Sheng Zhang  2 , Xuewei Wu  1 , Miaoyuan Li  3   4
Affiliations
Review

Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping

Chenxia Xu et al. J Clin Lab Anal. 2025 Feb.

Abstract

Objective: To explore the impact of in vitro cell subculture on prenatal diagnostic sample results and compare the efficacy of conventional karyotyping and chromosomal microarray analysis (CMA) in detecting chromosome mosaicism.

Methods: We conducted a retrospective analysis of G-banding karyotyping and CMA data from 2007 amniocentesis cases to investigate chromosome mosaicism.

Results: Chromosome mosaicism was detected in 1.49% of cases (30/2007). Sex chromosome mosaicism was the most common form of mosaicism. Among the 30 mosaicisms, 18 results were consistent between the two methods. In four cases, CMA indicated mosaicism but the karyotypes were normal. In eight cases, CMA was normal while the karyotypes suggested mosaicism.

Conclusions: CMA and karyotyping complement each other in prenatal genetic diagnosis. Combining both methods enhances detection accuracy, particularly in cases of chromosomal mosaicism, which may be missed after the subculture of adherent cells in karyotype analysis.

Keywords: chromosomal microarray; karyotype analysis; mosaicism; prenatal diagnosis.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Image results of case 17: (A) Original image of karyotype analysis: 47, XX,+mar. The arrow points to the marker chromosome; (B) CMA: a 14.98 Mb mosaicism duplication at 7p12.1‐q11.21 (representing a proportion of mosaicism of 60%), contains 28 protein‐coding genes, without the triple dose‐sensitive gene.
FIGURE 2
FIGURE 2
CMA image results of case 20: (A) Chromosome 7 has a copy number status of 2; (B) Allele difference calculated the mosaicism ratio of ROH on chromosome 7q. Allele difference has four lines in this region; The top and bottom bands have values of 1 and −1, which correspond to the log2 ratio values; The values of the two middle lines are 0.5 and −0.5; It can be calculated that the mosaicism ratio of ROH on chromosome 7q is about 50%.
FIGURE 3
FIGURE 3
The image results of case 30 (A) Karyotype analysis of G‐banding: 92,XXXX,t(11;18)(p13;q12)×2; (B) original image of karyotype analysis: 92,XXXX,t(11;18)(p13;q12)×2; (C) original image of karyotype analysis: 46,XX,t(11;18)(p13;q12); (D) Karyotype analysis of G‐banding: 46,XX,t(11;18)(p13;q12).
FIGURE 4
FIGURE 4
Comparison of mosaic fractions identified by karyotype analysis and chromosomal microarray analysis (CMA).
See this image and copyright information in PMC

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