13/11/2024
The PGT-M (Preimplantation Genetic Testing for Monogenic Disorder), also commonly known as PGD (Preimplantation Genetic Diagnosis), is a genetic testing conducted before embryo implantation. This technique can analyze the embryo’s genetics from an early stage to detect whether any known mutations inherited from the parents to the embryo.
Embryos that are at risk of the disease are discarded, while healthy embryos, free from the genetic disorder, are selected for implantation into the mother’s uterus. The effectiveness of this method has been proven to help reduce the occurrence of children being born with genetic disorders and minimize the need for pregnancy termination in cases where the fetus shows signs of severe anemia or hydrops fetalis.
Early detection and screening play a crucial role in treatment prognosis. If both the husband and wife are carriers of the Thalassemia gene, there is a 25% chance that their child will be affected by the disorder. Therefore, couples planning to have children, especially those with a family history of Thalassemia, should undergo screening to detect potential genetic risks and take appropriate preventive measures using the PGT-M.
PGT-M not only effective in diagnosing Thalassemia, but also helps in diagnosing various other rare monogenic genetic disorders in embryos, such as Duchenne muscular dystrophy, spinal muscular atrophy, Hemophilia, congenital adrenal hyperplasia, and more.
First Trimester Prenatal Screening (11th- 13th Week) This is a crucial stage to detect genetic abnormalities at the earliest. Common screening methods include: Ultrasound: Evaluates the structure of the fetus, particularly measuring...
Preimplantation Genetic Testing for Aneuploidy (PGT-A) is an advanced genetic testing method that helps identify abnormalities in the number and structure of chromosomes (chromosomal abnormalities) in embryos. Performed during in vitro...
Genetic Abnormalities in Male Infertility Infertility has become a global issue, with an increasing rate in both men and women. This issue, especially in men, cannot be overlooked. According to a report by the World Health Organization...
Genetic testing plays a crucial role in assisted reproductive treatment as it helps couples identify and address genetic abnormalities early, thereby increasing the chances of having a healthy and safe pregnancy. With modern medical...
Parental Age and Its Impact on the Fetus Women over the age of 35 and men over the age of 50 have a higher risk of giving birth to a child with congenital disabilities. This is due to the decline in the quality of eggs and sperm, which...
Currently, up to 90% of Down syndrome cases can be detected while the fetus is still in the womb through advanced screening methods. Screening for this condition requires coordination of several factors such as maternal age, ultrasound...
Spinal Muscular Atrophy (SMA) is a rare autosomal recessive neurological-muscular disorder. The cause of SMA is a homozygous or compound heterozygous mutations in the SMN1 gene, which results in insufficient production of the SMN protein...
Thalassemia is a hereditary hemolytic disease that causes serious health complications and affects the future of the next generation. With its genetic inheritance through recessive genes from both parents, this condition not only directly...
