Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
7645018 | Revue Francophone des Laboratoires | 2018 | 7 Pages |
Abstract
Preimplantation genetic diagnosis (PGD) is an alternative procedure to prenatal diagnosis for couples at-risk to have children affected with a severe genetic disease, such as a mitochondrial DNA (mtDNA) disorder. It relies on the genetic analysis of one or a few cells sampled from in vitro fertilized embryos, between day 3 and day 5 of development. In the case of mtDNA disorders, quantification of the mutant load on these cells is performed in order to assess the risk for the embryo to develop a severe mitochondrial disease, either in utero or in childhood. Our 15-year experience supports the reliability of such procedure. Overall 15 heteroplasmic patients were included in our PGD program. A total of 26 cycles were started, 25 oocytes retrievals and 16 embryo transfers were performed, resulting in 3 pregnancies and birth of 3 children. The mutant load assessed on a single blastomere sampled from 94 embryos was very close to the mutant load of the remaining cell/embryo, for all mutations tested : m.8344A > G, m.3243A > G, m.8993T > G, m.8993T > C, m.9185T > C, m.10197G > A. Most of the transferred embryos (17/25) were heteroplasmic, and 2/3 neonates carried the maternal mtDNA mutation, questioning the long-term prognosis of these patients. PGD remains a cumbersome procedure with a low success rate, which cannot be applied to homoplasmic or critically homoplasmic patients. There is therefore a strong need to develop alternative procedures such as nuclear transfer.
Keywords
Related Topics
Physical Sciences and Engineering
Chemistry
Analytical Chemistry
Authors
Sophie Monnot, Nadine Gigarel, Arnold Munnich, Marlène Rio, Nelly Frydman, Laetitia Hesters, Jean-Paul Bonnefont, Julie Steffann,