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Alberola T.M.,Sistemas Genomicos S.L. Paterna | Bautista-Llacer R.,Sistemas Genomicos S.L. Paterna | Vendrell X.,Sistemas Genomicos S.L. Paterna | Garcia-Mengual E.,Reproductive Genetics Laboratory | And 3 more authors.
Journal of Assisted Reproduction and Genetics | Year: 2011

Purpose: Development of an ad hoc protocol for the preimplantion genetic diagnosis of propionic acidemia in a couple carrying the mutations c.737G>T (G246V) and c.1218del14ins12 (ins/del) in the PCCB gene. Propionic acidemia is an autosomal recessive metabolic disorder where the body is unable to process certain parts of proteins and lipids. Symptoms manifest few days after birth and sometimes progress to more serious medical problems, including heart abnormalities, coma and death. Methods: Four short tandem repeat markers closely linked to the PCCB gene were tested, in order to support the direct mutation detection diagnosis. Multiplex fluorescent heminested polymerase chain reaction followed by fragment analysis and minisequencing was used. Results: Fourteen single blastomeres from nine embryos were tested and two carrier embryos were transferred, resulting in the birth of two healthy boys. Conclusions: Preimplantation genetic diagnosis represents a valid reproductive option for couples affected of propionic acidemia, in order to avoid transmission to offspring. © 2010 Springer Science+Business Media, LLC. Source


Kahraman S.,In Vitro Fertilisation Unit | Beyazyurek C.,Reproductive Genetics Laboratory | Ekmekci C.G.,Reproductive Genetics Laboratory
Reproductive BioMedicine Online | Year: 2011

Preimplantation human leukocyte antigen (HLA) typing allows the birth of healthy children who are potential donors of stem cells for their affected siblings. This technique can be used for acquired diseases such as leukaemia or can be used for single-gene disorders such as thalassaemia. This retrospective study presents clinical data obtained from 171 couples who had undergone 327 preimplantation HLA typing cycles: 262 cycles for HLA typing in combination with mutation analysis and 65 cycles for the sole purpose of HLA typing. Of the diagnosed embryos 17.6% were found to be HLA matched. Embryo transfer was performed in 212 cycles, 34.9% clinical pregnancy rate per transfer was achieved and 59 healthy and HLA-compatible children were born. Twenty-one sick children have been cured through haemopoietic stem cell transplantation. The effect of maternal age and ovarian reserve on reproductive outcome was assessed retrospectively. The data demonstrated that, once a mutation-free and HLA-compatible embryo was found, clinical pregnancy rate did not differ statistically significantly despite the presence of some cycle-related limitations such as advanced maternal age and/or diminished ovarian reserve. Preimplantation HLA typing is an effective therapeutic tool for curing an affected sibling even for poor-prognosis patients. Preimplantation human leukocyte antigent (HLA) typing allows the birth of healthy children who are potential donors of stem cells for their affected siblings. This technique can be used for acquired diseases such as leukaemia or can be used for single-gene disorders such as thalassaemia. This study presents clinical data obtained from 171 couples who underwent 327 preimplantation HLA-typing cycles. Of these, 262 cycles were performed for HLA typing in combination with mutation analysis and 65 cycles were performed for the sole purpose of HLA typing. A total of 17.6% of the diagnosed embryos were found to be HLA matched. Embryo transfer was performed in 212 cycles. The clinical pregnancy rate per transfer was 34.9% and 59 healthy and HLA compatible children were born. Twenty-one sick children have been cured through haemopoietic stem cell transplantation. The effect of maternal age and ovarian reserve on reproductive outcome was assessed retrospectively. The data demonstrated that, once a mutation-free and HLA-compatible embryo was found, clinical pregnancy rates did not differ statistically significantly by the presence of some cycle-related limitations such as advanced maternal age and/or diminished ovarian reserve. Preimplantation HLA typing is an effective therapeutic tool for curing an affected sibling even for poor-prognosis patients. © 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. Source


Beyazyurek C.,Reproductive Genetics Laboratory | Ekmekci C.G.,Reproductive Genetics Laboratory | Saglam Y.,Reproductive Genetics Laboratory | Saglam Y.,Genetic Diagnosis Center | And 2 more authors.
Fertility and Sterility | Year: 2010

Objective: To report a healthy birth after preimplantation genetic diagnosis (PGD) performed for a consanguineous couple carrying an identical familial reciprocal translocation in both partners. Design: Case report. Setting: In vitro fertilization (IVF) clinic and genetic laboratory in a private hospital. Patient(s): Consanguineous couple carrying the same balanced reciprocal translocation: 46,XX,t(1;16)(q12;q11.2) and 46,XY,t(1;16)(q12;q11.2). Intervention(s): 25 oocyte-cumulus complexes were retrieved 36 hours after human chorionic gonadotropin injection; metaphase II oocytes were fertilized by intracytoplasmic sperm injection; single blastomere biopsy was performed on 15 embryos on day 3; one embryo was found to be normal or balanced according to fluorescent in situ hybridization studies, embryo transfer was performed on day 4. Main Outcome Measure(s): Healthy birth of homozygous double translocation carrier twins with 46,XY,t(1;16)(q12;q11.2)mat,t(1;16)(q12;q11.2)pat karyotype. Result(s): Healthy monozygotic male twins were born at 36 weeks of gestation. Karyotype studies of the babies revealed that they are double translocation homozygotes: 46,XY,t(1;16)(q12;q11.2)mat,t(1;16)(q12;q11.2)pat. They are healthy and more than 4 years old later show no physical or mental abnormalities. Conclusion(s): To our knowledge, this is the first PGD study performed for a couple who carry the same reciprocal translocation. The twins born after this study are rare examples in the literature of healthy balanced reciprocal translocation homozygotes. © 2010 by American Society for Reproductive Medicine. Source


Yapan C.C.,Reproductive Genetics Laboratory | Beyazyurek C.,Reproductive Genetics Laboratory | Ekmekci C.G.,Reproductive Genetics Laboratory | Kahraman S.,In Vitro Fertilization Center
Balkan Journal of Medical Genetics | Year: 2014

Carriers of inversions involving euchromatic regions are at risk of having unbalanced offspring due to meiotic crossover. In carriers, recombination can occur during gametogenesis and cause genetically unbalanced sperm and subsequently unbalanced embryos. Here we present segregation analysis results of an infertile male with 46,XY,inv(2) (q21.2q37.3) using fluorescent in situ hybridization (FISH) on sperm cells. This is the largest paracentric inversion (PAI) reported so far in a meiotic segregation analysis study. Sperm FISH revealed 28.0% recombinant spermatozoa rate for chromosome 2, which was the highest rate in PAI carriers in the literature. Our results indicate a clear correlation between the size of the inverted segment and the frequency of the recombinant spermatozoa. The results of the FISH analysis with the information of unbalanced spermatozoa rate can provide accurate counseling on the genetic risk of infertility. Source


Cinar C.,Reproductive Genetics Laboratory | Beyazyurek C.,Reproductive Genetics Laboratory | Ekmekci C.G.,Reproductive Genetics Laboratory | Aslan C.,Reproductive Genetics Laboratory | Kahraman S.,In Vitro Fertilization Unit
Fertility and Sterility | Year: 2011

Objective: To report the presence of normal sperm cells for chromosome 14 in a homologous 14;14 Robertsonian translocation carrier. Design: Case report. Setting: In vitro fertilization clinic and genetics laboratory in a private hospital. Patient(s): Infertile couple referred for IVF. Intervention(s): Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques were used in karyotype and sperm FISH analysis. Three IVF treatments were performed, two of which included preimplantation genetic diagnosis (PGD). Main Outcome Measure(s): Cytogenetic analysis revealed pure 45,XY,t(14;14) (q10;q10) karyotype. Sperm FISH analysis for chromosome 14 revealed 13% normal sperm cells in the sperm sample. Result(s): Sperm FISH analysis revealed 13% normal sperm cells for chromosome 14 in the homologous 14;14 Robertsonian translocation carrier. The couple underwent two IVF cycles together with PGD. In the first trial there was no suitable embryo for transfer. In the second trial one normal blastocyst was transferred on day 6. However, pregnancy was not established in this second PGD cycle. Conclusion(s): To our knowledge, this is the first sperm FISH study revealing the presence of normal sperm in the ejaculate of a pure homologous translocation carrier. The PGD study performed for this couple is also unique in the literature. © 2011 American Society for Reproductive Medicine, Published by Elsevier Inc. Source

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