ĐẶT LỊCH KHÁM

Genetic abnormalities can lead to serious consequences in reproductive health and the well-being of future generations. From a medical perspective, the following article will analyze specific risks and emphasize the importance of early detection to minimize undesirable impacts.

1. Impact on Reproductive Ability
   • Many genetic abnormalities hinder the reproductive process, leading to infertility, miscarriage, or the birth of a child with deformities. Several genetic syndromes negatively affect the reproductive ability of both men and women, including:
   • Turner Syndrome: A leading cause of infertility in women with a ratio of 1/2000 – 1/3000. Women with this syndrome often have underdeveloped ovaries, amenorrhea, and a small uterus, leading to infertility.
   • Klinefelter Syndrome: Causes infertility in men with a ratio of 1/500 – 1/1000. Men with this syndrome have an extra X chromosome, leading to small testicles and a reduced or absent sperm production.
   • Balanced Chromosomal Translocation: A common cause of recurrent miscarriage or birth defects with a ratio of 1/500. In the process of forming eggs or sperm, balanced translocations in the parents lead to excess or missing genetic material, affecting fetal development.
   • AZF Deletion: Results in azoospermia or weak sperm in men, directly affecting the ability to conceive naturally.
2. Increased Risk of Birth Defects and Genetic Diseases in Future Generations
   • In addition to affecting reproductive ability, genetic abnormalities also increase the risk of birth defects and genetic diseases in children. Couples who are carriers of recessive genes have up to a 25% chance of having a child with a genetic disorder, even if both parents show no obvious symptoms.
   • Recessive Genetic Diseases: By 2020, over 2000 recessive genetic disorders have been reported, with an average incidence of 1/200. These diseases arise when both corresponding genes are mutated, leading to the loss of gene function. Some common diseases in Vietnam include:
   • Thalassemia: Carrier rate of 1/7, causing severe anemia and other complications.
   • G6PD Deficiency: Carrier rate of 1/36, leading to hemolytic anemia when exposed to oxidative stress.
   • Phenylketonuria: Carrier rate of 1/60, which can cause irreversible brain damage if not detected early.
   • Citrin Deficiency (MCP): Carrier rate of 1/32, causing severe liver damage in newborns.

A concerning fact is that 80% of birth defects occur in families with no history of genetic diseases, and these symptoms often do not appear in the parents. Without genetic testing, detecting and preventing these risks before birth is extremely difficult.

To protect reproductive health and the future of your children, early genetic testing is essential. By detecting genetic abnormalities early, you can make informed decisions, reduce risks, and avoid unwanted consequences. This not only saves time and treatment costs but also ensures health and happiness for the entire family in the future.