Genetic tests recruited for planed baby inherited disease and malformations prevention.
Gens guide our body to grow and develop, our organs to function and repair themselves when needed. When there is a malfunction (mutation) in the encoding areas of these genes, inherited diseases may occur (eg: cancer, heart disease, etc.). A high percentage of humans are carriers of affected gens, but the individual is free of the disease because every gen has twin, and if the twin gen is healthy, no disease or malformations will happen. These mutations are transmitted to the future child by the female egg and \or sperm cell. If the child will inherit the same mutant gen from both parents he will suffer from a genetic syndrome or severe disease. Some diseases (especially cancer) will appear if only one parent passes the affected gen.
How, in the biotech era, we mobilize knowledge for our benefit?
If you plan a family or plan to extend the family, the first step is a
Broad genetic screening tests for both partners, even when there is no family history of genetic diseases. Eighty percent of children born with a genetic problem has no family history of the same disease. An extensive genetic survey is a simple way to detect defects in the DNA. That does not cause disease in the parent (autosomal recessive), but if a similar defect exists in the other parent, the child is at a remarkably high risk of being born ill or affected.
An oncogenic genetic screening test is recommended in case of a family history of malignant disease. Discovering a carcinogenic gene mutation that causes a malignant disease will help in the early detection and saving of the carrier parent life and will not allow the gene to be transmitted to the child.
Example: 1 out of 7 women are expected to have breast cancer in their span life. Some of the patients carry a genetic defect in one or more of the genes encoding for tumor suppression or tumor growth. For a woman who is not carrying an oncogenetic mutation, the risk of illness is about 1.5% while an oncogenetic carrier has a 47% risk to be ill. Knowledge of carrier status for both partners allows early detection and preventative care. If you are a carrier, the defective gene may be allocated in the fetus before his implantation in the womb ensuring a healthy baby.
The onco-genetic panel assembly is customized for an individual, couple or family and is based on detailed medical questioning.
Before Pregnancy: Pre-implantation genetic testing (PGT) of the embryo and implantation of a non-carrier embryo.
If the pregnancy is already running: Placental (chorionic villi sampling-CVS) or amniotic fluid genetic test (Amniocentesis).
Supplemental genetic counseling
Are given by the genetic companies that carry out genetic sequencing tests and if there are clinically significant findings you will be referred to genetic counseling or/and onco-geneticist.
What to do with the findings of carrier status?
- For mutations that affect the function and health of the carrier: build a customized plan for early detection / preventive care/ change nutrition habits and physical exercise.
- For mutations that do not affect the function and health of the carrier: Testing for the spouse to avoid disease (for a recessive autosomal gene) of the offspring.
