Reproductive outcome following pre-implantation genetic diagnosis (PGD) in the UK

Abstract

In 2013, the National Health Service Commissioning board centralized the funding in England for up to three cycles of pre-implantation genetic diagnosis (PGD) for couples who have, or are carriers of, a specific genetic disorder. This study presents the historical data of PGD cycles and their clinical outcomes in UK as extrapolated from the national data registry. Retrospective analysis of outcome of cycles undergoing pre-implantation genetic diagnosis in the UK over the past 20 years was performed from the Human Fertilisation and Embryology Authority database (n = 2974). Binary logistic regression was used to determine trends over time and adjusted for maternal age. Briefly, the number of PGD cycles has risen 127-fold from 1991 to 2012 with 3.6-fold increase (360% rise) from 2004 to 2012. A total of one in four embryos following pre-implantation genetic diagnosis did not reach embryo transfer and 92% of these were due to a failure to survive. The live birth rate has risen over 20 years and there has been a steady decline in reported incidence of congenital abnormalities (p< 0.07). PGD has thus emerged as a safe and effective alternative to prenatal diagnosis but with ever evolving technological advances, a robust system of data collection that incorporates techniques used and reporting of mutation-specific clinical outcomes is suggested.

Preimplantation genetic testing and child health: a national register-based study

“…Our results are consistent with previously published research on singletons ( Liebaers et al , 2010 ; Hasson et al , 2017 ; Sunkara et al , 2017 ; Zhang et al , 2019 ; Zheng et al , 2021 ) showing comparable results in pregnancies after PGT and IVF/ICSI. Moreover, no significant difference in major birth defects could be found when comparing PGT to IVF/ICSI or spontaneous conception, findings also in line with other studies ( Desmyttere et al , 2012 ; Bay et al , 2016 ; Hasson et al , 2017 ; Sharpe et al , 2018 ; Zhang et al , 2019 ; Zheng et al , 2021 ). In the present study, the rate of any birth defects in singletons after PGT was 4.6% at birth in accordance with the latest reported numbers from the PGT Consortium ( De Rycke et al , 2017 ) presenting a 5% risk of any birth defect.…”

27 years of prenatal diagnosis for Huntington disease in the United Kingdom

“…Across the ESHRE dataset, the pregnancy rate for PGD was 22%, with 2 of 10 couples undergoing embryo transfer achieving a pregnancy 14 . HD has become the most common indication for monogenic PGD in the UK, with pregnancy rates are 34% per cycle, with a live birth rate of 23% for fresh embryo transfer and 18% for frozen from 1999-2012 15 . The latest data available from HFEA reported a 25.6% live birth per initiated cycle for 2013 16 .…”

IVF’s 40th birthday

“…Also, in this issue, we publish our further original research papers that will be of interest to readers of Human Fertility. Editor's highlights include the paper by Sharpe, Avery, and Choudhary (2018), who report a retrospective analysis of the outcome of cycles of pre-implantation genetic diagnosis in the UK over the past 20 years, and a paper by Haervig et al (2018), which investigates whether male factor infertility is associated with mid-life low-grade inflammation. However, I hope you enjoy reading all of the papers in this issue.…”