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'Designer babies' almost thirty years on

Handyside, Alan H (2018) 'Designer babies' almost thirty years on. Reproduction, 156 (1). F75-F79. ISSN 1470-1626. (doi:10.1530/REP-18-0157) (KAR id:67398)

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The first pregnancies and live births following IVF and preimplantation genetic testing (PGT), formerly known as preimplantation genetic diagnosis (PGD), were reported in 1990, almost 30 years ago, in several couples at risk of X-linked inherited conditions, which typically only affect boys inheriting the X chromosome with the affected gene from their carrier mothers. At that time, it was only possible to identify the sex of the embryo by amplifying a Y-linked repeat sequence in single cells biopsied at cleavage stages and avoid the transfer of males, half of which would be affected. The extensive publicity surrounding these cases and the perceived risk of using IVF and PGT for desirable characteristics not related to health, such as sex selection, led to the epithet of 'designer babies' which continues to resonate to this day. Here I briefly reflect on how the technology of PGT has evolved over the decades and whether it deserves this reputation. With efficient methods for whole genome amplification and the genomic revolution, we now have highly accurate universal tests which combine marker-based diagnosis of almost any monogenic disorder with the detection of aneuploidy. PGT is now clinically well established and is likely to remain a valuable alternative for couples at risk of having affected children.

Item Type: Article
DOI/Identification number: 10.1530/REP-18-0157
Uncontrolled keywords: Preimplantation genetic testing/monogenic disease/single nucleotide polymorphism/karyomapping
Subjects: Q Science
Divisions: Faculties > Sciences > School of Biosciences
Depositing User: Sue Davies
Date Deposited: 22 Jun 2018 12:19 UTC
Last Modified: 13 Jun 2019 23:00 UTC
Resource URI: (The current URI for this page, for reference purposes)
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