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Expanded chromosomal microarray comprising screening for spinal muscular atrophy and monogenic diseases

2024-11-20 genetic and genomic medicine Title + abstract only
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BackgroundCopy number variants platforms, as critical supports for genetic diagnosis, have been well implemented in prenatal diagnosis. However, numerous severe conditions with underlying single-gene defects are not included in current invasive prenatal screening. To bridge this gap, an expanded chromosomal microarray analysis was developed, employing a meticulous designed single nucleotide polymorphism chip. This chip incorporated additional probes to augment its efficacy in screening for spina...

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