Prenatal diagnosis of beta-thalassemia in Egypt: implementing accurate high-tech methods did not reflect much on the outcome

Pediatric Hematology and Oncology
S ElgawharyA Elbeshlawy

Abstract

The clinical severity of thalassemia major makes it a priority genetic disease for prevention programs through prenatal diagnosis for carrier couples. Incorporation of automated DNA sequencing that enables the characterization of mutations not detected by other mutation specific detection procedures was a prime goal of this work. Automated DNA sequencing was offered on fetal tissues in 30 pregnancies during the year 2005. The pregnancies were at high risk for homozygosity or compound heterozygosity for beta-thalassemia based on mutation analysis of both parents before prenatal diagnosis. Both parents have beta-thalassemia trait. Fetal samples were collected by chorionic villus sampling (CVS) in the first trimester and by amniocentesis in the second trimester. The point mutations were characterized by PCR (ARMS). The absence of the expected fragment with all the mutant ARMS primers insinuated an uncharacterized DNA segment that was further subjected to direct automated fluorescent DNA sequencing in an attempt to know if the fetus was affected by parents' mutations. If no mutation was detected using the PCR ARMS, the sample was further analyzed using direct automated fluorescent DNA sequencing. The mean gestation when carrying ou...Continue Reading

References

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Citations

Mar 27, 2015·Journal of Pediatric Hematology/oncology·Amira A M Adly, Fatma Soliman El Sayed Ebeid
Oct 23, 2013·Journal of Medical Screening·Nasir A S Al-AllawiHanan Hamamy
Jun 14, 2012·Prenatal Diagnosis·A El-BeshlawyM Petrou
Dec 12, 2012·Journal of Community Genetics·Hanan A Hamamy, Nasir A S Al-Allawi
Mar 7, 2012·International Journal of Hematology·Tariq MoatterJehan Ara Pal
Jul 30, 2011·Hemoglobin·Mohammad Saeid RahiminejadAli Kord Valeshabad
Dec 17, 2009·Hemoglobin·Amal El-Beshlawy, Ilham Youssry

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