Preconception genetic test: because it is useful?
Before planning a pregnancy, it is good that the pair of future parents undergoes a genetic test to verify the health of both. Decide to undergo a preconception genetic test for the detection of autosomal recessive genetic diseases or related to the X chromosome, can be decisive for the future of the couple. In fact, numerous genetic pathologies, even serious, can be transmitted by hereditary.
Over 1 are known.200 genetic diseases, including, for example, cystic fibrosis (FC) or spinal muscle atrophy (SMA). These diseases occur when one or more genes have DNA alterations. The mutation of a gene can appear spontaneously or be inherited from one or both parents.
Genetic test because it is important
In any case, autosomal recessive genetic diseases are manifested when two copies of the same changed gene are inherited. When both parents are bearers of recessive mutations of the same gene, it happens that:
- The probability that the children inherit the sick gene and are affected by recessive disease is 25%
- The probability that they are healthy bearers is 50%
- The probability that children are not mutation bearers is 25%.
As regards recessive diseases related to the X chromosome, however, the transmission of the gene that causes the disease is sexual nature. In this case, if the mother is bearer, 50% of the offspring will receive a changed copy of the gene:
- Male children will always be affected by illness
- The daughters will be carriers, but they will not be affected by illness.
Only some mutations cause genetic diseases
Knowing the mutation at the base of genetic disease can be fundamental for a couple you want to have a child. But often the couple is not aware of their reproductive risk. It is estimated, in fact, that as many as 80% of children with a genetic disease arise from a couple without a well -known familiarity.
In Italy, 1 in 25 individuals is a healthy carrier of cystic fibrosis, a genetic disease caused by mutation of the CTFR gene and which causes anomalies in the secretion of many organs 1 . At every pregnancy, the pair of healthy carriers is 1 liked by 4 likely to conceive a sick child 1 .
Thanks to the genetic test Igea it is possible to identify early the reproductive risk of a couple
It is a unique and innovative preconception test, which allows you to analyze the DNA of the parents obtained through a simple blood test. It is also indicated in the absence of specific genetic indications and familiarity for a pathology.
The preconception genetic test can be of great use when you decide to have a child. The results of genetic analyzes will allow to evaluate the most suitable reproductive path to minimize the possibility of conceiving a child with a genetic disease, such as pre -implant or prenatal genetic diagnosis (amniocentesis/villocentesis).
It is advisable to contact a specialist in medical genetics or reproduction medicine to evaluate and plan all possible reproductive options.