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Evaluation of beta-thalassemia in the fetus through cffDNA with multiple polymorphisms as a haplotype in the beta-globin gene.
- Source :
-
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine [Transfus Clin Biol] 2020 Nov; Vol. 27 (4), pp. 243-252. Date of Electronic Publication: 2020 Aug 13. - Publication Year :
- 2020
-
Abstract
- Objective: Invasive biopsy during the pregnancy is associated with an abortion risk of approximately 1% for the fetus. Free fetal DNA in maternal plasma is an excellent source of genetic material for prenatal molecular diagnoses. This study was conducted to investigate beta-thalassemia mutation in the fetus through maternal blood with multiple polymorphisms as haplotypes in the beta-globin gene.<br />Methods: In this study, a total of 33 beta-thalassemia carrier (minor) couples were genotyped by ARMS-PCR for IVSII-IG>A mutation. During pregnancy, 10mL of blood was collected from pregnant women, and DNA was extracted by the magnetic bead-based extraction, and fetal DNA was enriched with AMPure XP kit. Five polymorphisms in 4 haplotype groups were evaluated by the Sanger Sequencing method. Finally, results were compared with those of the invasion method.<br />Results: Participants in study were 33 couples, mean age of the men was 26±5 years, and mean age of women was 23±4 years, and mean MCV, MCH, HbA2 blood parameters were 62.4±5.3, 19.6±3.1, 4.2±2.1 respectively. A total of 33 fetuses were genotyped for IVSII-IG>A mutation. Nine fetuses were affected, 10 fetuses were normal and 14 fetuses were carrier of beta-thalassemia. Sensitivity and specificity of Sanger Sequencing were equal to 88.8% and 91.6% respectively. Positive and negative predictive values were obtained as 80% and 95.6%, respectively.<br />Conclusion: Mutational status of the fetus can be assessed by determining inheritance of paternally-derived alleles based on detection of haplotype-associated SNP in maternal plasma. Magnetic-based DNA extraction and fetal DNA enrichment are very simple and easy to perform and have satisfactory accuracy.<br /> (Copyright © 2020. Published by Elsevier Masson SAS.)
Details
- Language :
- English
- ISSN :
- 1953-8022
- Volume :
- 27
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine
- Publication Type :
- Academic Journal
- Accession number :
- 32798758
- Full Text :
- https://doi.org/10.1016/j.tracli.2020.05.003