Challenges in non‐invasive prenatal screening for sub‐chromosomal copy number variations using cell‐free DNA
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DOI: 10.1002/pd.5161
Abstract: Non‐invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub‐chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context… read more here.
Keywords: prenatal screening; invasive prenatal; copy number; chromosomal copy ... See more keywords
Investigation of sub‐chromosomal changes in males with idiopathic azoospermia by chromosomal microarray analysis
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DOI: 10.1111/and.14489
Abstract: Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is still unclear. Chromosomal microarrays are widely used to… read more here.
Keywords: sub chromosomal; chromosomal changes; chromosomal microarray; idiopathic azoospermia ... See more keywords
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications
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DOI: 10.1371/journal.pone.0171319
Abstract: Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that sub-chromosomal deletions or duplications associated with… read more here.
Keywords: targeted capture; chromosomal deletions; deletions duplications; sub chromosomal ... See more keywords