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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies
Y Verlinsky1, S Rechitsky, K Laziuk
1Reproductive Genetics Institute, Chicago, IL, USA.
Abstract:
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive demyelinating disorder of the central nervous system, caused by mutations of the proteolipid protein 1 gene (PLP1 gene). As no specific therapy is available for PMD, preimplantation genetic diagnosis (PGD) may be a useful option for couples carrying this mutation. PGD was performed for a couple who had had one child with the L86P mutation in exon 3 of the PLP1 gene. Because of advanced maternal age, PGD for this single-gene disorder was performed together with testing for chromosomal abnormalities. Polar bodies and blastomeres were tested for the presence of maternal mutation and closely linked markers DXS8020 and PLP5' (CA)n. The same blastomeres were also tested for the copy number of chromosomes 13, 16, 18, 21, 22, X and Y, and five chromosomally abnormal embryos were identified. A total of three embryos predicted to be unaffected and free of chromosomal disorder were transferred back to the patient, resulting in a twin pregnancy and the birth of two healthy female infants confirmed to be free of PMD, representing the first PGD for PMD combined with aneuploidy testing.
Insights
Preimplantation genetic diagnosis (PGD) offers a solution for couples at risk of Pelizaeus-Merzbacher disease (PMD). This study successfully combined PGD for PMD with aneuploidy testing, resulting in healthy infants.
Area of Science:
- Genetics
- Reproductive Medicine
- Neurology
Background:
- Pelizaeus-Merzbacher disease (PMD) is a severe X-linked recessive demyelinating disorder of the central nervous system.
- Mutations in the proteolipid protein 1 gene (PLP1) are the primary cause of PMD.
- Currently, no specific therapies exist for PMD, making preventative reproductive options crucial.
Observation:
- Preimplantation genetic diagnosis (PGD) was performed for a couple with a history of PMD due to an L86P mutation in the PLP1 gene.
- Due to advanced maternal age, PGD was integrated with testing for common chromosomal abnormalities.
- Both polar bodies and blastomeres were analyzed for the maternal mutation, linked markers, and chromosomal copy number.
Findings:
- The study successfully identified embryos unaffected by the PMD mutation and chromosomal disorders.
- Five chromosomally abnormal embryos were detected and excluded from transfer.
- Three embryos predicted to be healthy were transferred, leading to a successful twin pregnancy.
Implications:
- This represents the first documented case of PGD for PMD combined with comprehensive aneuploidy testing.
- This combined approach provides a viable reproductive strategy for families affected by PMD and concerned about chromosomal abnormalities.
- The successful birth of healthy, unaffected infants demonstrates the efficacy of this advanced PGD technique.
