NIPD of hemoglobinopathies; detect paternal mutation using HRM

What is it about?

The noninvasive prenatal detection of paternal mutations in β thalassemias is achievable using a high-resolution melting technique with cell-free fetal DNA. This is the first study from Turkey to test the diagnostic performance and practical applicability of this technique in a clinical setting.

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Why is it important?

The high-resolution melting technique is useful for detection of paternal mutations of β-thalassemias and for detection during the early stage of pregnancy using cell-free fetal DNA. This analysis reduces the risk for a double heterozygous fetus without using an invasive method such as chorionic villus sampling.

Perspectives

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Analyzing paternal mutations in cffDNA can eliminate the risk for a double heterozygote fetus in β thalassemias. HRM is a rapid procedure with a low risk for PCR contamination. Small amounts of cffDNA containing mutations for single-gene disorders were detected easily in maternal plasma using this method.

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