scholarly journals Successful hematopoietic SCT from non-identical twins to two sisters with β-thalassemia major by using preimplantation genetic diagnosis and HLA typing

2011 ◽  
Vol 46 (12) ◽  
pp. 1581-1582 ◽  
Author(s):  
M A Yesilipek ◽  
G Karasu ◽  
N Erçelen ◽  
V Uygun ◽  
M Akcan ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Thalassemia Major ◽  
Identical Twins ◽  
Hla Typing

scholarly journals Preimplantation Genetic Diagnosis—An Overview

2005 ◽  
Vol 53 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Caroline Mackie Ogilvie ◽  
Peter R. Braude ◽  
Paul N. Scriven
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
Hla Typing ◽  
Success Rates ◽  
Aneuploidy Screening ◽  
Reciprocal Translocations ◽  
Public Controversy ◽  
Polar Bodies ◽  
Monogenic Diseases

Since the early 1990s, preimplantation genetic diagnosis (PGD) has been expanding in scope and applications. Selection of female embryos to avoid X-linked disease was carried out first by polymerase chain reaction, then by fluorescence in situ hybridization (FISH), and an ever-increasing number of tests for monogenic diseases have been developed. Couples with chromosome rearrangements such as Robertsonian and reciprocal translocations form a large referral group for most PGD centers and present a special challenge, due to the large number of genetically unbalanced embryos generated by meiotic segregation. Early protocols used blastomeres biopsied from cleavage-stage embryos; testing of first and second polar bodies is now a routine alternative, and blastocyst biopsy can also be used. More recently, the technology has been harnessed to provide PGD-AS, or aneuploidy screening. FISH probes specific for chromosomes commonly found to be aneuploid in early pregnancy loss are used to test blastomeres for aneuploidy, with the aim of replacing euploid embryos and increasing pregnancy rates in groups of women who have poor IVF success rates. More recent application of PGD to areas such as HLA typing and social sex selection have stoked public controversy and concern, while provoking interesting ethical debates and keeping PGD firmly in the public eye.

Preimplantation genetic diagnosis for HLA typing in a case of X-linked chronic granulomatous disease

2012 ◽  
Vol 91 (7) ◽  
pp. 876-878 ◽  
Author(s):  
BIRTE DEGN ◽  
JOHNNY HINDKJAER ◽  
METTE WULFF CHRISTENSEN ◽  
TANJA ØSTERLUND MORTENSEN ◽  
HANS JAKOB INGERSLEV
Keyword(s):  
Chronic Granulomatous Disease ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Hla Typing ◽  
Granulomatous Disease

scholarly journals P-48 First successful preimplantation genetic diagnosis for β-thalassemia combined with HLA typing in China

2013 ◽  
Vol 26 ◽  
pp. S44-S45
Author(s):  
S. Xiaoting ◽  
Z. Canquan ◽  
X. Yanwen ◽  
Z. Yiping ◽  
Z. Yanhong ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Hla Typing

Preimplantation genetic diagnosis (PGD) for HLA typing: bases for setting up an open international collaboration when PGD is not available

2010 ◽  
Vol 94 (3) ◽  
pp. 1129-1131 ◽  
Author(s):  
Marina Bellavia ◽  
Nicolas Von Der Weid ◽  
Christina Peddes ◽  
Sebastien Jacquemont ◽  
Inge Liebaers ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
International Collaboration ◽  
Genetic Diagnosis ◽  
Hla Typing

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.

Sign in / Sign up

Export Citation Format

Share Document