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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
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Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH?
J Huang1, L C Poon, R Akolekar
1Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR.
Summary
High fetal nuchal translucency thickness (NT) is not associated with pathogenic chromosomal copy number variants (CNVs) in pregnancies with normal karyotypes. Array comparative genomic hybridization (CGH) confirmed no pathogenic CNVs in these cases.
Area of Science:
- Prenatal diagnosis
- Genetics
- Obstetrics
Background:
- Increased fetal nuchal translucency (NT) thickness is a marker for various chromosomal abnormalities.
- Array comparative genomic hybridization (CGH) offers higher resolution for detecting copy number variants (CNVs) than traditional karyotyping.
Purpose of the Study:
- To investigate the association between high fetal NT and pathogenic chromosomal CNVs.
- To evaluate the utility of array CGH in pregnancies with increased NT and normal fetal karyotype.
Main Methods:
- Array CGH was performed on chorionic villus samples from 215 singleton pregnancies.
- These pregnancies had high fetal NT (≥3.5 mm) and normal karyotypes at 11-13 weeks' gestation.
Main Results:
- The median fetal NT was 4.0 mm.
- Array CGH detected additional CNVs in 1.4% of cases, but none were pathogenic.
Conclusions:
- High fetal NT without other sonographically detectable defects may not be linked to pathogenic CNVs.
- Array CGH did not identify pathogenic CNVs in this cohort, suggesting normal karyotype is reliable in such cases.
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