Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Fernandez RM

PROVIDER: S-EPMC4519537 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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

Fernández Raquel M RM Peciña Ana A Sánchez Beatriz B Lozano-Arana Maria Dolores MD García-Lozano Juan Carlos JC Pérez-Garrido Rosario R Núñez Ramiro R Borrego Salud S Antiñolo Guillermo G

BioMed research international 20150716

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 ...[more]

PMID: 26258137

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Project description:Transanal endoscopic microsurgery (TEM) is a minimally invasive technique that is increasingly being used to treat early rectal cancer (T1/T2). We studied the outcomes of TEM for rectal cancer at our institution looking at the indication, recurrence rate, need for further radical surgery, 30-day and 12-month mortality and complication rate. We performed a retrospective analysis of prospectively collected data of cases between 2008 and 2012: 110 TEM procedures were performed during this period: 40 were confirmed rectal cancers and 70 were benign. We analysed the data for the 40 patients with confirmed rectal cancer. Thirty (75 %) of the subjects were male with a mean age of 71?±?10 years (range 49-90 years) and 19 (48 %) patients were ASA 3 and 4. Nineteen (48 %) of cancers were pT1, eighteen (45 %) were pT2, two (5 %) were pT3 and one was yPT0. Mean specimen size was 66?±?20 mm (range 33-120 mm) with a mean polyp size of 41?±?24 mm (range 18-110 mm). The mean cancer size was 24?±?13 mm (range 2-50 mm). Average distance from the anal verge was 70?±?37 mm (range 10-150 mm), and the mean operating time was 72?±?22 min (range 40-120 min), with an average blood loss of 28?±?15 ml (range 10-50ml). Median hospital stay was 2?±?1 days (range 1-7 days). Complete excision (R0) was achieved in 37 (93 %) patients. Minor post-operative complications included urinary retention in two and pyrexia in three patients. There were no 30-day or 12-month mortalities. Mean follow-up was 13?±?11 months, range (3-40 months) Local recurrence occurred in two (5 %) patients, both underwent redo TEM. Twelve (30 %) patients underwent laparoscopic radical resections (seven AR and five APER) post-TEM. Post-operative histology confirmed pT0N0 in 7/12 patients. Three were lymph node-positive (T0N1), one was pT3N1 and the fifth was pT3N2. TEM is associated with quicker recovery, shorter hospital stay and fewer complications than radical surgery. It is a good alternative to radical surgery in early rectal cancer, especially for high-risk patients. Recurrent tumours can be treated with redo TEM.

Dataset Information

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

Publications

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

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