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Preimplantation genetic testing for Marfan syndrome
G L Harton1, P Tsipouras, M E Sisson
1Genetics & IVF Institute, Fairfax, VA 22031, USA.
Molecular Human Reproduction
|September 1, 1996
Summary
This study reports the first successful use of preimplantation genetic testing (PGT) to achieve a pregnancy and live birth of a baby free from the Marfan syndrome mutation. PGT identified embryos without the FBN-1 gene defect, enabling the birth of an unaffected child.
Area of Science:
- Reproductive Medicine
- Human Genetics
- Medical Diagnostics
Background:
- Marfan syndrome (MFS) is an autosomal dominant disorder impacting skeletal, ocular, and cardiovascular systems.
- Defects in the fibrillin-1 (FBN-1) gene are the primary cause of Marfan syndrome.
- Genetic testing is crucial for diagnosing and managing MFS and its inheritance patterns.
Observation:
- The study utilized preimplantation genetic testing (PGT) for the first time to prevent Marfan syndrome transmission.
- Embryos were analyzed for a specific CA repeat marker within the FBN-1 gene to identify unaffected offspring.
- The prospective father was heterozygous for the CA repeat and affected with Marfan syndrome.
Findings:
- One in-vitro fertilization (IVF) cycle produced 12 embryos; six were identified as heterozygous (1/2) for the CA repeat and presumed Marfan-mutation-free.
- Five of these unaffected embryos were transferred, leading to a successful pregnancy.
- Post-transfer genetic testing, including chorionic villus sampling, confirmed the fetus was free of the Marfan mutation.
Implications:
- This marks a significant advancement in reproductive technology for families at risk of Marfan syndrome.
- PGT offers a viable option for preventing the transmission of genetic disorders like MFS.
- The successful application of PGT demonstrates its potential for ensuring the birth of healthy children from affected parents.