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. (23rd August 2013)

• Record Type: Journal Article
• Authors: Yenilmez, Ebru Dündar; Tuli, Abdullah; Evrüke, İ. Cüneyt
• Is Part Of: Prenatal diagnosis. Volume 33:Number 11(2013:Nov.)
• Page Start: 1054
• Page End: 1062
• Publication Date: 2013-08-23
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4196
• Languages: English
• ISSNs: 0197-3851

Abstract

ABSTRACT: Objective: This study used a high‐resolution melting (HRM) technique to detect paternal mutations for the noninvasive prenatal diagnosis (NIPD) of β‐thalassemia and sickle cell anemia (HbS). We also determined the levels of cell‐free fetal DNA and total cell‐free DNA. Methods: We used the HRM technique for fetal genotyping of paternal mutations in maternal plasma from 32 pregnancies at risk of β‐thalassemia and 57 pregnancies at risk of HbS. The DNA levels in maternal plasma were measured using real‐time quantitative PCR. Multiples of the median (MoM) values were calculated in women at risk for β‐thalassemia or HbS. Results: Twenty‐two paternal mutations were detected in 89 pregnant women. Although we were successfully able to detect the paternal β‐thalassemia mutations, the mutant HbS fetuses could not be distinguished from maternal background in the early weeks of pregnancy. The detection of DYS14 in male fetuses was 100%. The MoM values of women at high risk of having HbS‐affected fetuses were higher than those for the other groups. Conclusion: High‐resolution melting is a useful method for NIPD of β‐thalassemias by detecting paternal mutations in the maternal plasma. Cell‐free fetal DNA quantification and MoM values were not informative for HbS or β‐thalassemias in early pregnancy. © 2013 John Wiley & Sons, Ltd. Abstract : What's already known about this topic? 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. What does this study add? 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.