Table 3 Comparison of the results of noninvasive prenatal testing and Sanger sequencing.

From: Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

Family

Paternal mutation

Maternal mutation

Final diagnosis

Prediction/Confirmed

Prediction/Confirmed

Prediction/Confirmed

The first family

Mutant/Mutant

Wildtype/Wildtype

Normal/Normal

The second family

Mutant/Mutant

Not possible/Mutant

Not possible/Deaf

The third family

Not possible/Single heterozygote

Not possible/Single heterozygote

Not possible/Normal

The fourth family

Mutant/Mutant

Wildtype/Wildtype

Normal/Normal

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