مقالات پذیرفته شده در هفتمین کنگره بین المللی زیست پزشکی
New methods to prevent the transmission of genetic syndromes in fetuses
New methods to prevent the transmission of genetic syndromes in fetuses
Yasaman Alirezaei,1,*
1. B.S. student of Cellular and molecular biology Islamic Azad University Gorgan
Introduction: Genetic disorders stem from mutations, in DNA, which may either be inherited from parents or occur spontaneously. These disorders can lead to cognitive disabilities greatly impacting the lives of individuals and their families. Additionally these syndromes can be passed down to fetuses during pregnancy resulting in challenges and health issues. Recent years have witnessed advancements in the identification and prevention of syndromes in fetuses. This essay aims to explore novel approaches to hinder the transmission of syndromes.
Pre Implantation Genetic Diagnosis (PGD) emerges as a technique for examining embryos genetic makeup before implantation. By employing this method the transmission of syndromes to fetuses can potentially be avoided. During PGD a few cells are extracted from the embryo for DNA analysis to detect any genetic mutations present. Embryos devoid of mutations are then chosen for implantation. PGD is applicable not for gene disorders but also for chromosomal abnormalities and various other genetic conditions.
The success of PGD is evident through its ability to prevent the transmission of syndromes. For instance it has been effectively employed in averting the passing, on of fibrosis—a disorder that primarily affects the respiratory system and digestive tract.
PGD has also been employed to hinder the transmission of Huntingtons disease, which's a condition that leads to difficulties, with movement and cognitive deterioration.
PGD has some limitations. The success rate of PGD depends on the quality of the embryos and the accuracy of the genetic testing. PGD can also be expensive and time-consuming. Additionally, PGD may not be suitable for all couples, as some genetic mutations cannot be detected using this technique.
Methods: Non-Invasive Prenatal Testing (NIPT)
Non-invasive prenatal testing (NIPT) is a technique used to detect genetic abnormalities in fetuses during pregnancy. NIPT is a blood test that analyzes the DNA of the fetus that is present in the mother's blood. NIPT can detect chromosomal abnormalities, such as Down syndrome, and can also detect some single gene disorders.
NIPT is more accurate than traditional prenatal screening tests, such as the triple screen or quad screen. NIPT can help parents make informed decisions about their pregnancy and can help healthcare providers prepare for the care of the newborn.
NIPT has some limitations. NIPT cannot detect all genetic abnormalities, and false positive and false negative results can occur. Additionally, NIPT is not a diagnostic test, and further testing may be required to confirm the results.
Gene Editing
Gene editing is a technique used to modify the DNA of cells, including human cells. Gene editing can be used to correct genetic mutations that cause genetic syndromes. Gene editing involves cutting and replacing DNA segments using specialized enzymes. Gene editing can be performed on embryos before implantation, which can prevent the transmission of genetic syndromes to fetuses.
Gene editing has been successful in correcting genetic mutations in animal models and in human cells in the laboratory.
Results: Gene Therapy
Gene therapy is a technique used to treat genetic disorders by replacing or repairing the mutated genes. Gene therapy can be used to treat genetic syndromes in fetuses. Gene therapy involves delivering healthy genes to the cells of the body using viruses or other delivery methods.
Gene therapy has been successful in treating some genetic syndromes. For example, gene therapy has been used to treat severe combined immunodeficiency (SCID).
Gene therapy has some limitations. Gene therapy can be expensive, and the long-term effects of gene therapy are not yet known.
Conclusion: Genetic syndromes can cause lifelong disabilities and medical challenges for individuals and their families. In recent years, significant advances have been made in identifying and preventing genetic syndromes in fetuses. Pre-implantation genetic diagnosis (PGD) is a technique used to test embryos for genetic mutations before implantation. Non-invasive prenatal testing (NIPT) is a technique used to detect genetic abnormalities in fetuses during pregnancy. Gene editing is a controversial technique that can be used to modify the DNA of embryos, and gene therapy is a technique used to treat genetic disorders. These new methods can help prevent the transmission of genetic syndromes in fetuses and improve the quality of life for individuals and their families. However, these techniques also raise ethical concerns and have limitations that need to be carefully considered.