NIPT data downstream interpretation
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
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