17th Meeting of the Irish Society of Human Genetics, Friday 5th September 2014.

نویسندگان

  • PJ Morrison
  • E Campbell
  • F Kennedy
  • A Russell
  • WH Smithson
  • L Parsons
  • B Liggan
  • B Irwin
  • N Delanty
  • SJ Hunt
  • J Craig
  • J Morrow
  • T Dineen
  • X Zhang
  • J Flanagan
  • A Kovacs
  • R Mihart
  • J O'Callaghan
  • J Culligan
  • N Daly
  • J Waterstone
  • AC Magee
  • FJ Stewart
  • TA Dabir
  • M McConachie
  • A McCoubrey
  • VPM McConnell
  • D Stack
  • E O'Meara
  • S Phelan
  • N McDonagh
  • L Kelly
  • R Sciot
  • M Debiec-Rychter
  • T Morris
  • D Cochrane
  • P Sorensen
  • MJ O'Sullivan
  • JJ O'Byrne
  • M Sweeney
  • D Donnelly
  • D Lambert
  • D Beattie
  • C Gervin
  • CA Graham
  • DE Barton
  • SA Lynch
  • CD Whelan
  • DP Hibar
  • JL Stein
  • D Speed
  • S Sisodiya
  • M Ohnson
  • D Goldstein
  • SE Medland
  • B Ranke
  • PM Thompson
  • G Cavalleri
  • C Coleman
  • EM Quinn
  • AW Ryan
  • RJL Anney
  • V Trimble
  • DW Morris
  • G Donohoe
  • J Conroy
  • G Trynka
  • C Wijmenga
  • S Ennis
  • R McManus
  • ET O'Halloran
  • TR Magalhaes
  • A Cole
  • S Cox
  • C Jeong
  • D Witonsky
  • P Robbins
  • H Montgomery
  • M Ota
  • M Hanaoka
  • Y Droma
  • CM Beall
  • A Di Rienzo
  • J Casey
  • P McGettigan
  • E Crushell
  • J Hughes
  • LJ Smyth
  • JK Kilner
  • KA Benson
  • AP Maxwell
  • AJ McKnight
  • DE Donnelly
  • L Jeffers
  • S Hampton
  • N Baillie
  • S Cooke
  • SM O'Connell
  • A McDonald
  • N O'Toole
  • A Bradfield
  • M Bradley
  • A Hattersley
  • S Ellard
  • P Proks
  • KK Mattis
  • F Ashcroft
  • SMP O'Riordan
  • D Coyle
  • M McDermott
  • M O'Sullivan
  • E Roche
  • F Quinn
  • D Cody
  • JM MacMahon
  • R Morrissey
  • A Green
  • AR Thompson
  • A Kulkarni
  • KJ Marks
  • K Snape
  • R Taylor
  • L Bradley
  • S Ramachandrappa
  • CF Pinto
  • T Dabir
  • P Logan
  • S. Liew
  • A Znaczko
  • H. Ryan
  • T McDevitt
  • M Higgins
  • A Crowley
  • M Rogers
  • S Geoghegan
  • J Shorto
  • S Ramsden
  • MP O'Riordan
  • M Moore
  • M Murphy
  • A Irvine
  • Anna Znaczko
  • A Wilson
  • F Stewart
  • MH Cather
  • IS Young
  • DP Nicholls
  • M O'Kane
  • P Sharpe
  • E Hanna
  • PJ Hart
  • N Savage
  • MW Humphreys
  • C Shaw-Smith
  • D Osio
  • MN Collinson
  • S McKee
  • S McNerlan
  • C McGorrian
  • J Galvin
  • J O'Byrne
  • S Stewart
  • SV Heggarty
  • SP Hegarty
  • V McConnell
  • J Turner
  • A Ward
  • R Kelly
  • C Joyce
  • B ó hIcí
  • K Meaney
  • L Gibson
  • PM Kelly
  • C Costigan
  • R Gul
  • S Byrne
  • L Hughes
  • M Ozaki
  • F O'Sullivan
  • A Parle-McDermott
  • SB Heavin
  • M McCormack
  • L Slattery
  • N Walley
  • A Avbersek
  • J Novy
  • S, S Sinha
  • N Alarts
  • B Legros
  • R. Radtke
  • Sisodiya
  • C Depondt
  • GL Cavalleri
  • S Connolly
  • EA Heron
  • MAG Irvine
  • AE Hughes
  • JM Darlow
  • R Darlay
  • M Hunziker
  • B Kutasy
  • AJ Green
  • H Cordell
  • P Puri
  • S Chand
  • JA McCaughan
  • S Shabir
  • W Chan
  • J Kilner
  • R Borrows
  • AP Douglas
  • T O'Neill
  • C Shepherd
  • R Hardy
  • Kenny
  • B Molloy
  • M Freeley
  • E Quinn
  • R McGinn
  • A Long
  • JM Gahan
  • E Connolly
  • MM Byrne
  • SG Gray
  • RT Murphy
  • H Gui
  • E Heinzen
  • D B Goldstein
  • S Petrovski
  • TJ O'Brien
  • S Cherny
  • PC Sham
  • L Baum
  • S Duffy
  • N Catherwood
  • TP McVeigh
  • KJ Sweeney
  • N Miller
  • MJ Kerin
  • JB Weidhaas
چکیده

Keynote address: " Marfan syndrome and related disorders: from gene to therapy " Prof. 3 AED Pregnancy register, UK and Ireland Antiepileptic drug (AED) exposure during pregnancy increases the risk of major congenital malformations (MCMs). The risk magnitude varies by AED exposure. We provide results from the UK and Ireland Epilepsy and Pregnancy Registers, of the risk of MCMs after monotherapy exposure to valproate, carbamazepine and lamotrigine. Fifteen-year prospective observational study (1996 – 2012). The main outcome measure is the MCM rate. Informative outcomes were available for 5206 cases. 1290 women were exposed to valproate monotherapy, 1718 to carbamazepine monotherapy and 2198 to lamotrigine monotherapy. The MCM risk with valproate monotherapy exposure in utero was 6.7% (95% CI 5.5% to 8.3%) compared with 2.6% with carbamazepine (95% CI 1.9% to 3.5%) and 2.3% with lamotrigine (95% CI 1.8% to 3.1%). A significant dose effect was seen with valproate (p=0.0006) and carbamazepine (p=0.03) exposed pregnancies. A non-significant trend towards higher MCM rate with increasing dose was found with lamotrigine. MCM rate for high-dose lamotrigine (>400 mg daily) was lower than the MCM rate for pregnancies exposed to <600 mg daily of valproate, but this was not significant (3.4% vs. 5.0%, p=0.31). In-utero exposure to valproate carries a significantly higher MCM risk than lamotrigine (p=0.0001) and carbamazepine (p=0.0001) monotherapy. High-dose lamotrigine was associated with fewer MCMs than all doses of valproate. While lamotrigine has a favourable profile compared with valproate for adverse pregnancy outcomes, the requirements for seizure control should not be overlooked. These risks should help in the genetic counselling of mothers with epilepsy considering a pregnancy. Pre-implantation Genetic Diagnosis PGD was first described in 1990. Until recently Irish couples opting for PGD had to travel abroad for treatment. With the first reported clinical pregnancy following embryo biopsy in an Irish fertility centre, pursuing IVF treatment with PGD in Ireland is now a reality. In 2012, the Irish Medicines Board (IMB) licensed two Irish fertility clinics to carry out embryo biopsy for PGD. To validate the PGD process, Cork Fertility Centre (CFC) biopsied non-viable oocytes and embryos and transferred the biopsied material to Reprogenetics, UK for genetic diagnosis. The gene amplification rate and the contamination rate were recorded to assess the biopsy and sampling procedures. Embryo integrity following biopsy, together with the proportion of biopsy cells remaining intact after removal were used to evaluate embryo biopsy skill. The results of all …

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عنوان ژورنال:

دوره 83  شماره 

صفحات  -

تاریخ انتشار 2014