Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Preimplantation genetic diagnosis (PGD) involves the screening of biopsied cells from in vitro fertilization (IVF) generated embryos. This procedure allows the selective transfer of unaffected embryos and thus may be preferable to prenatal diagnosis for couples at high risk of transmitting genetic defects to their offspring. In this way, termination of pregnancy is avoided. We describe here the development and first clinical application of PGD for medium-chain acyl-CoA dehydrogenase deficiency (MCAD). MCAD is a common inherited metabolic disorder affecting fatty acid beta oxidation. The condition is autosomal recessive with an incidence of 1/6000-1/15 000 live births in the UK. It presents usually within the first two years of life with fasting-associated hypoketotic hypoglycaemia which may lead to coma and death. The strategy developed was based on multiplex fluorescent PCR, and adapted for single cell detection. Mutation analysis was carried out using single-strand conformation polymorphism (SSCP) with fluorescent detection. The embryos generated through IVF arrested on day two post-insemination and consequently none were available for transfer; all available blastomeres were used to confirm the accuracy and reliability of the diagnostic assays.

Original publication

DOI

10.1002/1097-0223(200007)20:7<593::aid-pd876>3.0.co;2-o

Type

Journal article

Journal

Prenat Diagn

Publication Date

07/2000

Volume

20

Pages

593 - 598

Keywords

Acyl-CoA Dehydrogenase, Acyl-CoA Dehydrogenases, Adult, DNA, DNA Primers, Embryonic Development, Fatty Acids, Female, Genes, Recessive, Genetic Carrier Screening, Humans, Lipid Metabolism, Inborn Errors, Male, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Pregnancy, Preimplantation Diagnosis