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INVESTIGATE CHROMOSOMAL ABNORMALITIES IN FETUSES WITH INCREASED NUCHAL TRANSLUCENCY AT TU DU HOSPITAL
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Abstract
Background: In the past, fetuses with increased nuchal translucency (NT) were mainly tested for aneuploidy. Recently, evidence based medicine has shown that incidence of other genomic abnormalities in euploidy fetus. Microarray can detect incremental yield of copy number variants (CNV). This information may be useful in prenatal counseling. Objective: To determine the incidence of microdeletions, microduplications in euploidy fetus with increased NT ≥ 3 mm. Methods: This was a retrospective study of 491 fetus with NT ≥ 3 mm, who underwent invasive procudures, CMA or CNV-seq testing at Tu Du hospital between August 2020 and January 2022. Results: Incidence of aneuploidy was 19,1%. Among 397 euploidy fetus, we detected 9,1% [95%CI: 6,2-11,9] pathogenic CNV (pCNV), 6,3% [95CI%: 3,9-8,7] VUS. The incidence submicroscopic pCNV in general, isolated NT and when other malformations at NT-scan group were 6,0%, 5,6% and 9,5% respectively. The most common pCNV in our study were 22q11 duplication and 16p11.2-p12.2 microdeletion. Maternal age and NT were not associated with high risk pCNV. Conclusions: CMA can detected 9,1% pCNV incremental yield in euploidy fetus in order to assist more accurate prenatal counseling.
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Keywords
Increased nuchal translucency, , Copy number of variants (CNV), Microarray
References
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