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Diagnostic Value of Non-Invasive Prenatal Screening of Β-Thalassemia by Cell Free Fetal DNA and Fetal NRBC


Nadia Shafei, Mohammad Saeed Hakhamaneshi*, Massoud Houshmand, Siavash Gerayeshnejad, Fardin Fathi and Sardar Sharifzadeh   Pages 1 - 7 ( 7 )


Background: Beta thalassemia is a common disorder with autosomal recessive inheritance. The most reliable diagnostic method is invasive techniques have the risk of miscarriage. Now the non-invasive methods will be gradually alternative for these invasive techniques.

Objective: The aim of this study is to evaluate and compare the diagnostic value of two non-invasive diagnostic methods for fetal thalassemia using cell free fetal DNA (cff-DNA) and nucleated RBC (NRBC) in one sampling community.

Methods: 10 ml of blood was taken in two k3EDTA tube from 32 pregnant women (mean of gestational age = 11 weeks), who themselves and their husbands had minor thalassemia. One tube was used to enrich NRBC and other was used for cff-DNA extraction. NRBCs were isolated by MACS method and immunohistochemistry; the genome of stained cells was amplified by multiple displacement amplification (MDA) procedure. These products used as template in b-globin segments PCR. cff-DNA was extracted by THP method and 300 bp areas were recovered from the agarose gel as fetus DNA. These DNA were used as template in touch down PCR to amplify b-globin gen. The amplified b-globin segments were sequenced and the results compare with CVS result.

Results: The data showed sensitivity and specificity of thalassemia diagnosis by NRBC were 100% and 92% respectively and sensitivity and specificity of thalassemia diagnosis by cff-DNA were 100% and 84% respectively.

Conclusion: These methods with high sensitivity can be used as screening test but due to their lower specificity than CVS, they cannot be used as diagnostic test.


Prenatal Diagnosis.b-thalassemia. Screening. NRBC. Cff-DNA.Non-Invasive.


Student Research Committee, Kurdistan University of Medical Sciences, Sanandaj, Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Department of Biochemistry School of Medicine Tehran University of Medical Sciences Tehran, Kurdistan Molecular & Cellular Research Center, Kurdistan University of Medical Sciences, Sanadaj, Molecular & Cellular Research Center, Kurdistan University of Medical Sciences, Medical biochemistry, Tarbiat Modares University

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