scholarly journals Preimplantation genetic diagnosis of hemophilia A

2016 ◽  
Vol 14 (S1) ◽  
Author(s):  
Ming Chen ◽  
Shun-Ping Chang ◽  
Gwo-Chin Ma ◽  
Wen-Hsian Lin ◽  
Hsin-Fu Chen ◽  
...  
2010 ◽  
Vol 8 (4) ◽  
pp. 783-789 ◽  
Author(s):  
A. D. LAURIE ◽  
A. M. HILL ◽  
J. R. HARRAWAY ◽  
A. P. FELLOWES ◽  
G. T. PHILLIPSON ◽  
...  

2005 ◽  
Vol 53 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Diana Tomi ◽  
Georg Griesinger ◽  
Askan Schultze-Mosgau ◽  
Juliane Eckhold ◽  
Beate Schöpper ◽  
...  

Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five linked polymorphic markers was established. From 11 analyzed polar bodies, only 1 showed alleles linked to the mutation. The corresponding oocyte was transferred and no pregnancy was established. As seen in other investigations, the rate of heterozygous first polar bodies is surprisingly high.


2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Raquel M. Fernández ◽  
Ana Peciña ◽  
Beatriz Sánchez ◽  
Maria Dolores Lozano-Arana ◽  
Juan Carlos García-Lozano ◽  
...  

Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 34 couples have been included in our program since 2005 (30 for hemophilia A and 4 for hemophilia B). Overall, 60 cycles were performed, providing a total of 508 embryos. The overall percentage of transfers per cycle was 81.7% and the live birth rate per cycle ranged from 10.3 to 24.1% depending on the methodological approach applied. Although PGD for hemophilia can be focused on gender selection of female embryos, our results demonstrate that methodological approaches that allow the diagnosis of the hemophilia status of every embryo have notorious advantages. Our PGD Program resulted in the birth of 12 healthy babies for 10 out of the 34 couples (29.4%), constituting a relevant achievement for the Spanish Public Health System within the field of haematological disorders.


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

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