The Mystery in Mother’s Blood: An Early Look to the Genetic Inheritance of Fetus

Ebru Dündar Yenilmez*, Mustafa M. Alparslan & Abdullah Tuli

Department of Medical Biochemistry, University of Cukurova, Turkey

Dr. Ebru Dündar Yenilmez, Department of Medical Biochemistry, University of Cukurova, Turkey.

Keywords: Noninvasive Prenatal Diagnosis; Fetal DNA; Thalassemia; High Resolution Melting; Maternal Plasma


The discovery of cell free fetal DNA (cffDNA) in the maternal circulation have opened up new possibilities for noninvasive prenatal diagnosis (NIPD) more than one decade. Analysis of cffDNA from maternal plasma by PCR based technologies and high resolution melting analysis (HRM) offers great potential screening single gene disorders for NIPD. The aim of our study is to screen the paternal alleles derived from father in cffDNA for the risk of alpha and beta thalassemias using HRM assay using cffDNA in maternal blood. Maternal plasma samples obtained from 120 beta and 50 alpha thalassemia carrier pregnancies at risk for beta and alpha thalassemia whose couples carries different mutations. Paternally alleles were detected in 79 of 120 for beta thalassemia and 32 of 50 for alpha thalassemia in cffDNA. The paternal beta thalassemia mutations which found in fetal DNA’s were HBB:c.93-21G>A (IVSI-110), HBB:c.93-1G>A (IVSI-130), HBB:c.316-3C>G (IVSII-848), HBB:c.47G>A (Cd15), HBB:c.92+6T>C (IVSI-6), HBB:c.315+1G>A
(IVSII-1), HBB:c.25_26delAA (Cd8) and HBB:c.113G>A (Cd37). The paternal alpha thalassemia mutations 20.5kb del, Med I, -3.7kb del and -4.2kb del were also detected in cffDNA. The results confirmed with CVS by sequencing analysis for beta thalassemias and GAPPCR for deletional alpha thalassemias. HRM analysis is a rapid and useful mutation scanning method in NIPD of thalassemias to detect paternally derived alleles in cffDNA in the situation of the couples carries different mutations.

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