Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum

Chen, Chih‐Ping; Hsu, Chin-Yuan; Chern, Schu‐Rern; Wu, Peih-Shan; Chen, Shin-Wen; Wang, Wayseen

doi:10.1016/j.tjog.2019.11.020

Cited by 9 publications

(11 citation statements)

References 10 publications

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“…In our study, the percentages of cells for trisomy 21, 18 and 13 by cell-based chromosome analyses were in good agreement with mosaicism levels measured by DNAbased CNV-seq or CMA and were compared. However, for mosaic trisomy 15, trisomy, trisomy 2 and trisomy 22, levels of mosaicism by CNV-Seq and CMA were higher than those seen by karyotyping, which is consistent with previous reports for autosomal mosaicism [27][28][29][30]. This supports the general notion that normal cells may have had a growth advantage in culture or the abnormal cell line may have a culture disadvantage [18].…”

Section: Discussionsupporting

confidence: 90%

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

Chen

et al. 2021

BMC Med Genomics

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Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods A total of 72 mosaicism cases identified by karyotyping or CMA were recruited to the study. There were 67 mosaic samples co-analysed by CMA and CNV-seq, comprising 40 with sex chromosome aneuploidy, 22 with autosomal aneuploidy and 5 with large cryptic genomic rearrangements. Results Of the 67 positive mosaic cases, the levels of mosaicism defined by CNV-seq ranged from 6 to 92% compared to the ratio from 3 to 90% by karyotyping and 20% to 72% by CMA. CNV-seq not only identified all 43 chromosomal aneuploidies or large cryptic genomic rearrangements detected by CMA, but also provided a 34.88% (15/43) increased yield compared with CMA. The improved yield of mosaicism detection by CNV-seq was largely due to the ability to detect low level mosaicism below 20%. Conclusion In the context of prenatal diagnosis, CNV-seq identified additional and clinically significant mosaicism with enhanced resolution and increased sensitivity. This study provides strong evidence for applying CNV-seq as an alternative to CMA for detection of aneuploidy and mosaic variants.

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Section: Discussionsupporting

confidence: 90%

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

Chen

et al. 2021

BMC Med Genomics

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“…In our study, the percentages of cells for trisomy 21, 18 and 13 were in good agreement when DNA-based CNV-seq or CMA and cell-based chromosome analyses were compared. While mosaic trisomy 15 (Case 16 and Case 17), trisomy 8(Case 18), trisomy 2 (Case 22) and trisomy 22 (Case 19) were detected in the direct AF sample by CNV-Seq and CMA, however obviously lower levels of mosaicism was detected by karyotyping on cultured amniocytes which is consistent with the research reported previously [23][24][25][26]. It is feasible that the normal cells may have had a growth advantage in culture or the abnormal cell line may have a culturing disadvantage [13].…”

Section: Discussionsupporting

confidence: 90%

Integrated CNV-seq, Karyotyping and SNP-array Analyses for Effective Prenatal Diagnosis of Chromosomal Mosaicism

Chen

et al. 2020

Preprint

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Background: Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) provide advantage in detecting low-level mosaicism compared with chromosomal microarray analysis (CMA). However, a prospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods: A total of 72 mosaicism cases identified by karyotyping or CMA were recruited in this study, and 67 samples (40 sex chromosome aneuploidy, 22 autosomal aneuploidy and 5 submicroscopic CNVs) were eventually analyzed by CNV-seq. Results: CNV-seq not only identified all 43 chromsomal aneuploidies or submicroscopic CNVs detected by CMA, but also provided a 34.88% (15/43) increased yield compared with CMA. Besides, the level of mosaicism defined by CNV-seq range from 6% to 92%. Conclusion: In the context of prenatal diagnosis, CNV-seq identified additional and clinically significant information with enhanced resolution and increased sensitivity of detecting mosaicism as compared with the CMA platform we used. This study provides strong evidence for applying CNV-seq as an alternative prenatal diagnostic test.

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“…For example, trisomy 8 detected in CVS is rarely identified by karyotype in subsequent amniocyte cultures, likely due to selective growth disadvantage 97,98 . However, direct analysis of uncultured amniocytes by FISH or CMA has proven efficacious in identifying trisomy 8 mosaicism in follow‐up amniocentesis studies 99,100 …”

Section: Relevance Of Mosaicism To Nipt Using Cfdnamentioning

confidence: 99%

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis

et al. 2021

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The diagnosis of chromosomal mosaicism in the preimplantation and prenatal stage is fraught with uncertainty and multiple factors need to be considered in order to gauge the likely impact. The clinical effects of chromosomal mosaicism are directly linked to the type of the imbalance (size, gene content, and copy number), the timing of the initial event leading to mosaicism during embryogenesis/fetal development, the distribution of the abnormal cells throughout the various tissues within the body as well as the ratio of normal/abnormal cells within each of those tissues. Additional factors such as assay noise and culture artifacts also have an impact on the significance and management of mosaic cases. Genetic counseling is an important part of educating patients about the likelihood of having a liveborn with a chromosome abnormality and these risks differ according to the time of ascertainment and the tissue where the mosaic cells were initially discovered. Each situation needs to be assessed on a case‐by‐case basis and counseled accordingly. This review will discuss the clinical impact of finding mosaicism through: embryo biopsy, chorionic villus sampling, amniocentesis, and noninvasive prenatal testing using cell‐free DNA.

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Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum

Cited by 9 publications

References 10 publications

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

Integrated CNV-seq, Karyotyping and SNP-array Analyses for Effective Prenatal Diagnosis of Chromosomal Mosaicism

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis

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