Volume 15, Issue 4 (1-2021)                   MGj 2021, 15(4): 277-286 | Back to browse issues page

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mirzaee N, javadi G, zare karizi S, miryunesi M, keshavarz P. Prenatal diagnosis of β‐thalassemia through cffDNA by NGS technique and RHDO analysis. MGj 2021; 15 (4) :277-286
URL: http://mg.genetics.ir/article-1-1613-en.html
Abstract:   (837 Views)
Beta-thalassemia is a group of inherited blood disorders with autosomal recessive inheritance. The most effective strategy is to reduce the incidence of this genetic disease, which can be accomplished by utilizing appropriate prenatal diagnosis in clinical practice. Aggressive 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. Relative haplotype dosage (RHDO), a haplotype‐based approach, has shown promise as an application for noninvasive prenatal diagnosis. This study was conducted to investigate beta thalassemiain the fetus through maternal blood with NGS technique and RHDO analysis. Total of 5 beta-thalassemia carrier couples (minor) were genotyped by ARMS-PCR for IVSII-I G>A mutation. During the pregnancy, 10 ml of blood was collected from pregnant women, A sample of saliva was also taken from their Husbands. Samples were sent to the Genoma Center of Italy for NGS examination. Finally, results were compared with those of the invasion method.The results of NGS technique with RHDO analysis without having to analyze the affected person by haplotypic block analysis have 100% accuracy. The results with cffDNA were confirmed by invasive methods according to the national protocol for beta-thalassemia. A total of 5 fetal samples belong to above couples were genotyped for IVSII-I G>A mutation, in which 1 fetus were affected, 2 fetus were normal and 2 fetus were carrier of beta-thalassemia. Sensitivity and specificity of NGS test were equal to 100% and 100% respectively. Also, positive and negative predictive values were obtained as 100% and 100%, respectively.Targeted sequencing of maternal plasma DNA for NIPD of  beta- thalassemia  and  using  SHAPEIT software  for RHDO analysis is feasible, proved that it is applicable to construct parental haplotypes without information from other family members.
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Type of Study: Applicable | Subject: Subject 03
Received: 2019/12/15 | Accepted: 2020/12/19 | Published: 2021/02/2

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