Prenatal diagnosis of low-level mosaic trisomy 6 by amniocentesis

2006 ◽  
Vol 26 (11) ◽  
pp. 1093-1096 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Pei-Yin Lee ◽  
Dai-Dyi Town ◽  
Wayseen Wang
Keyword(s):  
Prenatal Diagnosis ◽  
Low Level ◽  
Mosaic Trisomy

scholarly journals Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome

2020 ◽  
Vol 59 (2) ◽  
pp. 327-330 ◽  
Author(s):  
Chih-Ping Chen ◽  
Yu-Ling Kuo ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Favorable Outcome ◽  
Low Level ◽  
Mosaic Trisomy

Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis

2005 ◽  
Vol 25 (11) ◽  
pp. 1067-1069 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Li-Feng Chen ◽  
Wen-Lin Chen ◽  
Wayseen Wang
Keyword(s):  
Prenatal Diagnosis ◽  
Low Level ◽  
Trisomy 7 ◽  
Mosaic Trisomy

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

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Na Ma ◽  
Hui Xi ◽  
Jing Chen ◽  
Ying Peng ◽  
Zhengjun Jia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Snp Array ◽  
Genomic Rearrangements ◽  
Chromosomal Mosaicism ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Low Level ◽  
Autosomal Aneuploidy ◽  
Number Variation

Abstract 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.

scholarly journals Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

2010 ◽  
Vol 49 (3) ◽  
pp. 333-340 ◽  
Author(s):  
Chih-Ping Chen ◽  
Yi-Ning Su ◽  
Schu-Rern Chern ◽  
Yuh-Ming Hwu ◽  
Shuan-Pei Lin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Genetic ◽  
Genetic Analyses ◽  
Trisomy 7 ◽  
Mosaic Trisomy

Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells

1998 ◽  
Vol 18 (7) ◽  
pp. 737-741 ◽  
Author(s):  
A. L. Webb ◽  
J. Wolstenholme ◽  
J. Evans ◽  
S. Macphail ◽  
J. Goodship
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 8 ◽  
Mosaic Trisomy

scholarly journals Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review

2016 ◽  
Vol 55 (5) ◽  
pp. 712-717 ◽  
Author(s):  
Chih-Ping Chen ◽  
Liang-Kai Wang ◽  
Schu-Rern Chern ◽  
Yen-Ni Chen ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Mosaic Trisomy
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