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

ABSTRACT: 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.

SUBMITTER: Fernandez RM

PROVIDER: S-EPMC4680048 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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

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

BioMed research international 20151202

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 applie ...[more]

PMID: 26713318

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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

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

Publications

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

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