Is there any way to distinguish between maternal point mutation and fetus using non-invasive prenatal testing?

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Beston F. Nore

Screen mitochondrial genome for mutation.

Heidar Sharafi

Dear Najmeh,

If you are searching for a mutation which the mother is heterozygous for that then you cannot easily determine the presence of the mutation in the fetal compartment of the extracted nucleic acid. As i know, the only available method for NIPD in such cases is massively parallel sequencing which is applying next generation sequencing for haplotyping of maternal and fetal DNA.

Yours,

Heidar