scholarly journals Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Raquel M. Fernández ◽  
Ana Peciña ◽  
Maria Dolores Lozano-Arana ◽  
Beatriz Sánchez ◽  
Juan Carlos García-Lozano ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Birth Rate ◽  
Fragile X ◽  
Genetic Diagnosis ◽  
Live Birth Rate ◽  
University Hospital ◽  
Mental Impairment ◽  
High Prevalence ◽  
The University

Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most common monogenic cause of mental impairment. Reproductive options for the FXS carriers include preimplantation genetic diagnosis (PGD). However, this strategy is considered by some centers as wasteful owing to the high prevalence of premature ovarian failure in FXS carriers and the difficulties in genetic diagnosis of the embryos. Here we present the results of our PGD Program applied to FXS, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 11 couples have participated in our PGD Program for FXS since 2010. Overall, 15 cycles were performed, providing a total of 43 embryos. The overall percentage of transfers per cycle was 46.67% and the live birth rate per cycle was 13.33%. As expected, these percentages are considerably lower than the ones obtained in PGD for other pathologies. Our program resulted in the birth of 3 unaffected babies of FXS for 2 of the 11 couples (18.2%) supporting that, despite the important drawbacks of PGD for FXS, efforts should be devoted in offering this reproductive option to the affected families.

scholarly journals Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Raquel M. Fernández ◽  
Ana Peciña ◽  
Beatriz Sánchez ◽  
Maria Dolores Lozano-Arana ◽  
Juan Carlos García-Lozano ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Methodological Approach ◽  
Genetic Diagnosis ◽  
Live Birth Rate ◽  
University Hospital ◽  
Methodological Approaches ◽  
The University ◽  
Clinical Overview ◽  
Selection Of

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.

scholarly journals P23 Preimplantation genetic diagnosis for Fragile X syndrome

2010 ◽  
Vol 20 ◽  
pp. S30
Author(s):  
C. Fernandez ◽  
P. Blanchet ◽  
T. Anahory ◽  
L. Reyftman ◽  
S. Hamamah ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Fragile X ◽  
Genetic Diagnosis

scholarly journals P-189. Preimplantation genetic diagnosis for fragile-X syndrome

1999 ◽  
Vol 14 (Suppl_3) ◽  
pp. 235-235
Author(s):  
K. Sermon ◽  
S. Seneca ◽  
W. Lissens ◽  
A. De Vos ◽  
M. Vandervorst ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Fragile X ◽  
Genetic Diagnosis

Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

2001 ◽  
Vol 21 (6) ◽  
pp. 504-511 ◽  
Author(s):  
A. Apessos ◽  
P. M. Abou-Sleiman ◽  
J. C. Harper ◽  
J. D. A. Delhanty
Keyword(s):  
Fragile X Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Fragile X ◽  
Genetic Diagnosis ◽  
Polymorphic Markers

scholarly journals FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome

2017 ◽  
Vol 19 ◽  
Author(s):  
Indhu-Shree Rajan-Babu ◽  
Mulias Lian ◽  
Felicia S.H. Cheah ◽  
Min Chen ◽  
Arnold S.C. Tan ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Haplotype Analysis ◽  
Fragile X ◽  
Genetic Diagnosis ◽  
In Vitro Fertilisation ◽  
Marker Haplotype ◽  
Cgg Repeat ◽  
Robust Detection

Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification. The assay was optimised and validated on single lymphoblasts isolated from fragile X reference cell lines, and applied to a simulated PGD case and a clinical in vitro fertilisation (IVF)-PGD case. In the simulated PGD case, definitive diagnosis of the expected results was achieved for all ‘embryos’. In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. FMR1 TP-PCR reliably detects presence of expansion mutations and obviates reliance on informative normal alleles for determining expansion status in female embryos. Together with multi-marker haplotyping and gender determination, misdiagnosis and diagnostic ambiguity due to allele dropout is minimised, and couple-specific assay customisation can be avoided.

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