Genetic diseases

If you, your partner or a family member has a serious genetic condition and are concerned about your children inheriting that condition, there are methods and treatments available that play a crucial role in helping to avoid passing these genetic conditions on to your future children.
These procedures involve fertility treatment combined with methods, such as testing your embryos to identify and address genetic disorders, thereby offering the possibility of healthier and disease-free outcomes. It is a complex but promising field of medical science that holds the potential to prevent genetic conditions within families.
When facing the prospect of a serious genetic condition within your family, there are several options available to ensure that the condition is not passed down to the next generation:
1. Pre-implantation Genetic Testing (PGT):
During in-vitro fertilization (IVF), you can have your embryos tested or screened for genetic conditions, ensuring that only healthy embryos are selected for implantation in the womb.
2. Mitochondrial Donation Treatment:
If mitochondrial disease is a concern, mitochondrial donation treatment may be an option to prevent the transmission of the disease.
3. Donor Sperm, Eggs, or Embryos:
Using donor sperm, eggs, or embryos can eliminate the genetic risk altogether and allow you to build your family with a lower risk of inherited conditions.
4. Prenatal Testing (CVS or Amniocentesis):
During pregnancy, you can opt for chorionic villus sampling (CVS) or amniocentesis tests to assess the genetic health of the fetus. These tests can screen for hundreds of genetic conditions, and if a condition is detected, you can make informed decisions about how to proceed with the pregnancy.
5. Adoption:
Adoption provides an alternative path to parenthood, allowing you to provide a loving home to a child without the genetic risk.
Each of these options comes with its own considerations and implications, so it's essential to consult with healthcare professionals and genetic counselors to make informed decisions that align with your needs and values.
Pre-implantation testing as treatment option
1. Pre-implantation genetic testing for monogenic disorders (PGT-M):
Pre-implantation Genetic Testing for Monogenic Disorders (PGT-M), formerly referred to as preimplantation genetic diagnosis (PGD), is a technique used in conjunction with in vitro fertilization (IVF) to help individuals with a hereditary condition in their family prevent its transmission to their offspring. PGT-M can identify nearly 400 rare genetic disorders within embryos, including conditions like Haemophilia A and B, Macular Dystrophy, Down Syndrome, Parkinson's disease types 1 and 4, sickle cell anemia, Cystic Fibrosis, and early-onset Alzheimer's disease. Following testing, patients have the option of selecting and implanting only healthy embryos into the womb, reducing the risk of passing on the genetic condition to their children.
2. Pre-implantation genetic testing for aneuploidy (PGT-A):
Pre-implantation Genetic Testing for Aneuploidy (PGT-A), formerly referred to as preimplantation genetic screening (PGS), is primarily employed in situations where women have experienced recurrent miscarriages or unsuccessful IVF treatments. It is used to examine embryos for any abnormalities that could potentially lead to another unsuccessful treatment cycle. PGT-A can also be used to assess embryos for chromosome issues, including the identification of conditions like Down's Syndrome. This testing helps improve the chances of selecting healthy embryos for implantation, potentially increasing the likelihood of a successful pregnancy.
3. Pre-implantation tissue typing (PTT):
Pre-implantation Tissue Typing (PTT), often referred to as 'Savior Sibling' technology, is a specialized procedure used to address the needs of families with a child who has a life-limiting blood disorder such as beta thalassemia, Fanconi's anemia, or Diamond-Blackfan anemia. In cases where a suitable donor cannot be found from a tissue bank or existing relatives, PTT offers parents the opportunity to conceive a child who is a tissue match to their older sibling. This ensures that the younger sibling can serve as a compatible donor for life-saving treatments for their affected sibling.
Mitochondrial Donation as treatment option
Mitochondrial donation treatment is an option for individuals who face the risk of transmitting a severe mitochondrial disease to their potential offspring. This treatment involves the transfer of nuclear genetic material (the genes responsible for an individual's traits) from the mother's eggs or embryos into eggs or embryos from a healthy mitochondrial donor. While any resulting children remain biologically related to their mother and father, they do not inherit the mitochondria associated with the disease, significantly reducing the risk of mitochondrial disorders.
Get support from our community
The fertility journey is often filled with challenges and uncertainties. We encourage you to maintain open communication with family and friends for emotional support, and also consider seeking additional assistance through support communities like Bumpy where you can meet others that might be facing similar challenges.
To provide more clarity and insights, we present below a comprehensive Guide to help you navigate your fertility journey.
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