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- W2003438056 abstract "Chromosomal microarray has significant advantages over standard chromosome analysis. Since January 2013; we have used a two-tiered approach for invasive diagnostics of all fetuses with a nuchal translucency (NT) ≥ 3.5 mm in 1st trimester pregnancies. This consists of a fast prenatal analysis for common aneuplodies by QF-PCR followed by chromosomal microarray on samples with normal QF-PCR test results or standard chromosome analysis on samples with abnormal QF-PCR result. The aim of this study was to evaluate the clinical value of chromosomal microarray for examination of genomic imbalances in prenatal samples (108 chorionic villus) from fetuses with increased nuchal translucency in a clinical setting where more than 90% of pregnant women receive combined first trimester screening. 108 samples obtained at gestational weeks 11+0−15+2 (mean 13 + 0) during ongoing pregnancy. Mean maternal age was 31.5 years (range 17.0 − 47.0). DNA was extracted directly from all chorionic villus samples using the Maxwell® system and examined with Elucigene QST*R kit (Elucigene) (n = 108), and 180 kb resolution oligonucleotide array-based comparative genomic hybridisation (n = 66) or standard chromosome analysis (n = 42). In 32 cases aneuploidy for 18; 21; or sex chromosomes, or triploidy were detected. Among the 66 cases with normal QF-PCR followed by chromosomal microarray analysis (we detected pathogenic copy number variations in 8 fetuses (12.1%, CI 4.2–20.0%). Two cases (3.0%) had copy number variations with uncertain clinical significance. Chromosomal microarray is a highly valuable diagnostic tool when increased nuchal translucency is detected and the two-tiered approach consisting of QF-PCR followed by CMA is very effective. More affected fetuses will be diagnosed at an earlier gestational age which will provide better possibilities for parents in making reproductive decisions and also have significant value in the future management of the fetus and the child." @default.
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- W2003438056 date "2014-09-01" @default.
- W2003438056 modified "2023-09-26" @default.
- W2003438056 title "OC04.05: Increased fetal nuchal translucency is associated with submicroscopic chromosomal abnormalities by chromosomal microarray" @default.
- W2003438056 doi "https://doi.org/10.1002/uog.13486" @default.
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