The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis

Hao, MengZhe; Li, Leilei; Zhang, Han; Li, Linlin; Yu, Yang

doi:10.1002/jcla.23514

Cited by 16 publications

(24 citation statements)

References 25 publications

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“…For example, in case 6 and case 7, the level of X monomeric mosaicism was lower in karyotype analysis (4.8% and 9.5%) compared to CMA analysis after eliminating the maternal contamination (90% and 50%). This is contrary to reports that cells with monomeric aneuploid have higher rates of proliferation and/or survival 16,17 . Different situations from those reported in the literature also occurs in cells with trisomic aneuploidy.…”

Section: Discussioncontrasting

confidence: 99%

“…This is contrary to reports that cells with monomeric aneuploid have higher rates of proliferation and/or survival. 16,17 Different situations from those reported in the literature also occurs in cells with trisomic aneuploidy. In hybrid of monosomy and trisomy cells (cases 10-12, 14), trisomic cells, which were previously thought to be less genetically stable, had increased levels after culture, while conversely monosomic cells with stability and higher viability had decreased levels of mosaicism.…”

Section: Cma For Mosaicismmentioning

confidence: 86%

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Fetal mosaicism, should conventional karyotype always be performed?

Su,

Wu,

Liang

et al. 2023

J of Obstet and Gynaecol

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Background and PurposeThe application of classical cytogenetic and DNA‐based molecular techniques to detect cell lineages of mosaicism derived from cultured or noncultured fetal cells may result in discordant results. This retrospective study aimed to assess the inconsistent diagnostic outcomes, technical availability, and limitations of chromosomal microarray analysis (CMA) and karyotyping for mosaicism.MethodologyA total of 75 fetuses diagnosed with mosaicism by karyotype analysis or CMA were selected, and the results from both the methods were compared and further analyzed.ResultsA total of 42 (56%, 42/75) CMA results were consistent with karyotypes, consisting of 22 cases of mosaic sex chromosomal abnormalities, 8 routine autosomal aneuploidy cases, 8 other autosome aneuploidy cases, 3 large cryptic genomic rearrangements, and 1 small supernumerary marker chromosome. Discrepancy between karyotype analysis and CMA was observed in 33 (44%, 33/75) mosaicisms involving 15 sex chromosomal abnormalities, 1 routine autosomal aneuploidies, 5 other autosome aneuploidy cases, 8 large cryptic genomic rearrangements, and 4 small supernumerary marker chromosomes.ConclusionConsidering the disparities between methods as well as the cell populations analyzed, both CMA and karyotype analysis have their own advantages and disadvantages. Therefore, CMA should ideally be used in combination with karyotyping to detect more cases of mosaicism than using either test alone.

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Section: Discussioncontrasting

confidence: 99%

Section: Cma For Mosaicismmentioning

confidence: 86%

Fetal mosaicism, should conventional karyotype always be performed?

Su,

Wu,

Liang

et al. 2023

J of Obstet and Gynaecol

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“…Compared with karyotyping, CNV detection techniques can test uncultured amniotic fluid cells, thus reducing the influence of cell culture on the mosaic ratio and restrictions of the cell cycle on prenatal diagnosis. However, owing to fluctuations in the fluorescence signal intensity and background noise, CMA has a low sensitivity to a lower proportion of mosaic patterns than karyotype analysis and CNVseq (Chai et al, 2019;Hao et al, 2020). The CMA result of amniotic fluid cell testing for case 840 was inconsistent with that of karyotyping of neonatal peripheral blood; the false negative result of CMA may be caused by the above reasons or tissue-specific chimerism.…”

Section: Discussionmentioning

confidence: 99%

Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China

et al. 2022

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Background: This study aims to evaluate prenatal diagnosis methods following positive noninvasive prenatal screening (NIPS) results.Methods: According to the positive noninvasive prenatal screening results, 926 pregnant women were divided into three groups: main target disease group (high risk for trisomy 21, trisomy 18, or trisomy 13), sex chromosome aneuploidy (SCA) group, and other chromosomal abnormalities group [abnormal Z-scores for chromosomes other than trisomy (T)21/T18/T13 or SCAs]. The verification methods and results were then retrospectively analysed.Results: In the main target disease group, the positive rate of chromosomal abnormalities confirmed by quantitative fluorescence polymerase chain reaction (QF-PCR) was 75.18% (212/282), which was not significantly different from that by karyotyping (79.36%, 173/218) and copy number variation (CNV) detection methods (71.43%, 65/91). The positive rate of additional findings confirmed by karyotyping and copy number variation detection methods in main target disease group was 0.46% (1/218) and 8.79% (8/91), respectively. The positive rate of chromosomal abnormalities confirmed by karyotyping and CNV detection methods were 27.11% (45/166) and 38.46% (95/247) in the SCA group and 4.17% (1/24) and 20% (36/180) in the other chromosomal abnormalities group, respectively. Fetal sex chromosome mosaicism was detected in 16.13% (20/124) of the confirmed SCA cases. There were no significant differences in the detection rates of chromosomal microarray analysis (CMA) and CNV sequencing (CNVseq) among the three groups (p > 0.05).Conclusion: QF-PCR can quickly and accurately identify aneuploidies following NIPS-positive results for common aneuploidy, and in combination with karyotyping and CNV detection techniques can provide more comprehensive results. With the NIPS-positive results for SCA or other abnormalities, CMA and CNVseq may have the same effect on increasing the detection rate. The addition of fluorescence in situ hybridization assay may help to identify true fetal mosaicism.

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“…But CMA can only detect the increased or decreased copy number of the X chromosomes and cannot accurately identify the composition of mosaicism, leading to the erroneous belief that fetal mosaicism is a low proportion of abnormal chimerism that may be formed by normal diploid cell lines and abnormal cells. Even when approximately same number of trisomic and monosomic cells, the results of CMA may even incorrectly show a normal ploidy due to a balanced net effect, (17,22) eg, 45, X/47, XYY/46, XY (case 43), lead to misjudgment of prognosis.…”

Section: Karyotype Analysis For Mosaicismmentioning

confidence: 99%

Fetal mosaicism, should conventional karyotype always be performed?

Bin

et al. 2023

Preprint

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The application of classical cytogenetic and DNA-based molecular techniques to detect cell lineages of mosaicism derived from cultured or non-cultured fetal cells may result in discordant results. This retrospective study aimed to assess the inconsistent diagnostic outcomes, technical availability, and limitations of chromosomal microarray analysis (CMA) and karyotyping for mosaicism. A total of 75 fetuses diagnosed with mosaicism by karyotype analysis or CMA were selected, and the results from both the methods were compared and further analyzed. A total of 42 (56%, 42/75) CMA results were consistent with karyotypes, consisting of 22 cases of mosaic sex chromosomal abnormalities, eight routine autosomal aneuploidy cases, eight other autosome aneuploidy cases, three large cryptic genomic rearrangements, and one small supernumerary marker chromosome. Discrepancy between karyotype analysis and CMA was observed in 33 (44%, 33/75) mosaicisms involving 15 sex chromosomal abnormalities, one routine autosomal aneuploidies, five other autosome aneuploidy cases, eight large cryptic genomic rearrangements and four small supernumerary marker chromosomes. Considering the disparities between methods as well as the cell populations analyzed, both CMA and karyotype analysis have their own advantages and disadvantages. Therefore, CMA should ideally be used in combination with karyotyping to detect more cases of mosaicism than using either test alone.

show abstract

The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis

Cited by 16 publications

References 25 publications

Fetal mosaicism, should conventional karyotype always be performed?

Fetal mosaicism, should conventional karyotype always be performed?

Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China

Fetal mosaicism, should conventional karyotype always be performed?

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