NIPT data downstream interpretation
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2 days ago
1769mkc ★ 1.2k

cfDNA is extracted from maternal plasma, and the genotypes of all SNPs are generally similar between the mother and the cfDNA. However, in the case of a mutation, the maternal genotype does not match the cfDNA.

Query : the maternal genotype does not match the cfDNA, do this need to match?

Additionally, what is the minimum percentage of mutant allele presence required to confirm the presence of a mutation?

Data is collected from

Mother DNA
CVS 
cfDNA 
Father DNA 
NIPT • 113 views
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