title: Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
abstract: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a fatal autosomal recessive metabolic disorder, presenting during infancy. Preimplantation genetic diagnosis (PGD) provides an option for establishing an unaffected pregnancy, avoiding the risk for termination of pregnancy following prenatal diagnosis. The method for pre-selection of mutation-free oocytes for LCHAD deficiency was developed by testing the first and second polar body removed from oocytes by micromanipulation techniques in the framework of in-vitro fertilization. To avoid misdiagnosis, testing was done using hemi-nested polymerase chain reaction (PCR), with outer primers designed to lie outside the pseudogene, eliminating false priming. Four of 12 tested oocytes were predicted to be unaffected, based on the heterozygous first and mutant second polar body. The embryos resulting from these mutation-free oocytes were replaced, yielding a singleton clinical pregnancy and birth of a healthy child following confirmation by prenatal diagnosis.
authors.affiliation: 836 West Wellington Avenue, Chicago, IL 60657, USA.
authors.forename: Yury
authors.initials: Y
authors.lastname: Verlinsky
authors.forename: Svetlana
authors.initials: S
authors.lastname: Rechitsky
authors.forename: Oleg
authors.initials: O
authors.lastname: Verlinsky
authors.forename: Charles
authors.initials: C
authors.lastname: Strom
authors.forename: Anver
authors.initials: A
authors.lastname: Kuliev