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Article
Open AccessPrenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening
So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a ...
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Article
Open AccessIdentification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical map**
Recent advances in Bionano optical map** (BOM) provide a great insight into the determination of structural variants (SVs), but its utility in identification of clinical likely pathogenic variants needs to b...
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Article
Open AccessNon-invasive prenatal screening for Emanuel syndrome
The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromos...
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Article
Open AccessThe application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies
Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such as T21, T18, and T13, with low false po...
