Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China

2006 ◽  
Vol 26 (11) ◽  
pp. 1021-1028 ◽  
Author(s):  
Deng Jie ◽  
Peng Wen-Lin ◽  
Li Jie ◽  
Fang Cong ◽  
Liang Xiao-Yan ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Beta Thalassemia

scholarly journals A Decade of Molecular Preimplantation Genetic Diagnosis of 350 Blastomeres for Beta-Thalassemia Combined with HLA Typing, Aneuploidy Screening and Sex Selection in Iran

2021 ◽  
Author(s):  
Yeganeh Keshvar ◽  
Solmaz Sabeghi ◽  
Zohreh Sharifi ◽  
Kiyana Sadat Fatemi ◽  
Panti Fouladi ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Tandem Repeats ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
Hla Typing ◽  
Causative Mutation ◽  
Beta Thalassemia ◽  
Aneuploidy Screening ◽  
Cell Stage

Abstract Background: Preimplantation genetic diagnosis (PGD) has been developed to detect genetic disorders before pregnancy which is usually done on blastomeres biopsied from 8-cell stage embryos obtained from in vitro fertilization method (IVF).Here we report molecular PGD results for diagnosing of beta thalassemia (beta-thal) which are usually accompanied with evaluating chromosomal aneuploidies, HLA typing and sex selection.Methods: In this study, haplotype analysis was performed using short tandem repeats (STRs) in a multiplex nested PCR and the causative mutation was detected by Sanger sequencing.Results: We have performed PGDs on 350 blastomeres from 55 carrier couples; 142 blastomeres for beta-thal only, 75 for beta-thal and HLA typing, 76 for beta-thal in combination with sex selection, and 57 for beta-thal and aneuploidy screening. 150 blastomeres were transferable, 15 pregnancies were happened, and 11 babies born.We used 6 markers for beta-thal, 36 for aneuploidy screening, 32 for sex selection, and 35 for HLA typing. To our knowledge combining all these markers together and the number of STR markers are much more than any other studies which have ever done.Conclusions: PGD is a powerful diagnostic tool for carrier couples who desire to have a healthy child and wish to avoid medical abortion.

scholarly journals Preimplantation Genetic Diagnosis for Beta Thalassemia

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Faravareh Khordadpoor Deilamani ◽  
Mohammad Taghi Akbari
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Haplotype Analysis ◽  
Genetic Diagnosis ◽  
Severe Anaemia ◽  
Beta Thalassemia ◽  
Clinical Tool ◽  
Singleton Pregnancy ◽  
Cycle Sequencing ◽  
The Status ◽  
Variant Detection

Background: Beta thalassemia is an autosomal recessive genetic disease with the symptoms of severe anaemia, ineffective erythropoiesis and bone deformities. Preimplantation genetic diagnosis is a noninvasive clinical tool for couples who are at risk of affected pregnancy to have a healthy child. Objectives: Here we report a PGD test for a couple who were heterozygous for CD36/37(-T) mutation in HBB gene and had terminated one affected pregnancy. Methods: Haplotype analysis of 6 flanking STR markers as well as variant detection by cycle sequencing were included in our PGD test in order to investigate the status of the embryos reliably. Results: Three out of five embryos were transferable. Conclusions: One normal and one carrier embryo were transferred which resulted in the singleton pregnancy and the birth of a healthy girl.

Increased enquiries for preimplantation genetic diagnosis (PGD)

2014 ◽  
Vol 74 (S 01) ◽  
Author(s):  
KJ Heiliger ◽  
D Gutknecht ◽  
C Adelfalk ◽  
A Eder ◽  
M Bals-Pratsch ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis
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