Chromosomal Microarray Analysis Using Array Comparative Genomic Hybridization on DNA from Amniotic Fluid and Chorionic Villus Sampling

2018 ◽  
pp. 171-186
Author(s):  
Ankita Patel
Keyword(s):  
Amniotic Fluid ◽  
Comparative Genomic Hybridization ◽  
Microarray Analysis ◽  
Array Comparative Genomic Hybridization ◽  
Chorionic Villus ◽  
Chromosomal Microarray ◽  
Comparative Genomic ◽  
Chromosomal Microarray Analysis ◽  
Chorionic Villus Sampling ◽  
Genomic Hybridization

scholarly journals Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions

2018 ◽  
Vol 38 (11) ◽  
pp. 858-865 ◽  
Author(s):  
Shen Gu ◽  
Madison Jernegan ◽  
Ignatia B. Van den Veyver ◽  
Sandra Peacock ◽  
Janice Smith ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Chorionic Villus ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chorionic Villus Sampling ◽  
Placental Mosaicism

scholarly journals Array-comparative genomic hybridization results in clinically affected cases with apparently balanced chromosomal rearrangements

2020 ◽  
Vol 23 (2) ◽  
pp. 25-34
Author(s):  
NB Satkin ◽  
B Karaman ◽  
S Ergin ◽  
H Kayserili ◽  
IH Kalelioglu ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Chromosomal Rearrangements ◽  
Chromosomal Microarray ◽  
Comparative Genomic ◽  
Gene Gain ◽  
Loss Of Function ◽  
Genomic Hybridization ◽  
Ultrasound Findings

Abstract Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicroscopic level, and changes in the gene structure, formation of a new chimeric gene, gain or loss of function of the genes and altered imprinting pattern may also affect the phenotype. Chromosomal microarray (CMA) is an efficient tool to detect submicroscopic imbalances at the breakpoints as well as in the whole genome. We aimed to determine the effectiveness of array-comparative genomic hybridization (aCGH) application in phenotypically affected cases with ABCRs at a single center from Turkey. Thirty-four affected cases (13 prenatal, 21 postnatal) carrying ABCRs were investigated with CMA. In postnatal series, ABCRs were familial in 7 and de novo in 14 cases. Seven de novo cases were imbalanced (in postnatal series 33.3% and in de novo cases 50.0%). Out of 13 prenatal cases, five were familial and eight were de novo in origin and two de novo cases were imbalanced (in 15.4% prenatal series and in 25.0% de novo cases). No cryptic imbalance was observed in familial cases. The anomaly rates with array studies ranged between 14.3-25.0% in familial and between 20.0-57.5% in de novo cases of postnatal series in the literature. Studies focused on prenatal ABCR cases with abnormal ultrasound findings are limited and no submicroscopic imbalance was reported in the cohorts. When de novo postnatal or prenatal results were combined, the percentage of abnormalities detected by CMA was 40.9%. Taking this contribution into consideration, all ABCRs should be investigated by CMA even if the fetal ultrasound findings are normal.

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