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.
Featured Image
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
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.
PhD Ebru Dündar Yenilmez
Cukurova Universitesi
Read the Original
This page is a summary of: Noninvasive prenatal diagnosis experience in the Çukurova Region of Southern Turkey: detecting paternal mutations of sickle cell anemia and β-thalassemia in cell-free fetal DNA using high-resolution melting analysis, Prenatal Diagnosis, August 2013, Wiley,
DOI: 10.1002/pd.4196.
You can read the full text:
Contributors
The following have contributed to this page
