Worldwide live births following the transfer of chromosomally “Abnormal” embryos after PGT/A: results of a worldwide web-based survey
In July 2016, the International Preimplantation Diagnosis International Society (PGDIS) modified reporting guidelines for what until then was called preimplantation genetic screening (PGS), and for the first time allowed selective transfers of
The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program
Tay-Sachs disease is an autosomal recessive disease of lysosome storage characterized by progressive neurologic degeneration.1 Children affected by classic Tay-Sachs disease manifest the first symptoms at around 6 months and die before reaching 5 years of age. The clinical manifestations are particularly severe including deafness, blindness, dementia, and recurrent convulsions during the terminal stage when affected children are confined to
Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges
The world’s first in vitro fertilization (IVF) baby was born in July 1978 in the UK. Since then, more than 7 million infants have been born worldwide as a result of IVF. Preimplantation genetic diagnosis (PGD) was introduced in the late 1980s for couples at risk of transmitting a genetic abnormality to their children. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing IVF and has been known as preimplantation genetic screening (PGS). The aim of this practice has been to identify and select euploid embryos for transfer, in order to increase efficacy of IVF cycle, ensure higher implantation rates or at least decreased time to pregnancy.