Cystic Fibrosis: Screening And Prenatal Diagnosis
What is cystic fibrosis?
Cystic fibrosis is one, caused by a child receiving an abnormal gene that causes disease from a parent. This is a lifelong disease that affects all organs of the body, and causes serious digestive and respiratory problems. The disease does not affect the appearance and intelligence of the infected person. In some cases, cystic fibrosis can lead to serious health problems and shorten the life of an infected person. Despite physical problems, many patients with cystic fibrosis can still attend school, get a job, and live a fulfilling life.
Cystic fibrosis is, that is, both parents must be carriers and the disease occurs when a child receives both of these genes from their parents. If a person carries only one abnormal recessive gene that causes the disease, they are called carriers, even though they do not exhibit the disease. If a parent is a carrier for cystic fibrosis, the chance of having a baby with this disease is 25% (1/4 chance)
Recessive genetic disease
The symptoms of cystic fibrosis vary depending on the body and severity.
In most cystic fibrosis cases, the patient's body produces a sticky and thick mucus. This buildup of mucus impedes lung function, causes breathing difficulties and can lead to infections. On the other hand, mucus can also affect the digestive system, making it difficult to break down and absorb food. Most men with this disease are infertile.
Can cystic fibrosis be cured?
New drugs and treatments have brought promise to people with cystic fibrosis, but it is still an incurable disease and lasts a lifetime. To treat lung problems, most infected children need physical therapy for about 30 minutes a day to clear the mucus from their lungs. The therapy is easy to perform and the parents of the child or other family members can do it
The proportion of people with the gene for cystic fibrosis is significantly higher in certain races and ethnic groups.
The disease occurs more often in white people. The risk also increases if there is a family history of cystic fibrosis.
Screening for carriers of disease genes
It can be done in couples planning to become pregnant or pregnant to assess their risk of having a baby. The test is done on a blood sample. A carrier test can be performed on all pregnant women. If the results show that a couple is at high risk, in the next step, many other tests will be recommended to assess whether the fetus has cystic fibrosis.
What if the spouse's test results are negative?
If your test result is negative, the probability that you are a carrier for cystic fibrosis is small. There are some rare abnormalities of the cystic fibrosis gene that this test cannot detect.
As a result, you may still get a negative result even though you may be the carrier. However this possibility is very low.
What if the spouse's test result is positive?
If your test result is positive, you are a carrier of the cystic fibrosis gene. In this case, the next step will be to test your spouse. Both parents must be carriers of the disease before the child will be exposed to the disease.
If only one parent is the carrier, the likelihood of cystic fibrosis in their child is very low. In this case, no other tests are necessary.
If a carrier screening for the other person is not possible, your genetic counselor can help you decide whether or not to have a screening test for cystic fibrosis in your unborn child.
What if the test results of both spouses are positive?
If the test results show that both spouses are carriers of the disease gene, then the chance of their children having cystic fibrosis is 25%. The chance that their child is also a carrier is that they carry the disease gene but do not show the disease will be 50% and the chance that their child will not carry the disease gene is 25% (due to receiving 2 normal genes from both parents).
What further tests should be done if both parents are carriers?
If both parents are carriers, further prenatal tests may be recommended to check whether the fetus has cystic fibrosis. These tests are not recommended if only one of you has a positive result. Parents may want to know if their child has cystic fibrosis, so that they have the preparation and special medical care necessary for the health of the baby after birth, or may choose to terminate the pregnancy.
What prenatal tests can be done to diagnose cystic fibrosis and other conditions?
Prenatal tests used to diagnose cystic fibrosis and a number of other conditions include or test samples of the placenta. A thoracic specimen test may be performed after the 9th week of pregnancy, while an amniotic fluid test is indicated later, at 15-20 weeks of pregnancy.
What are my options for a diagnostic test?.
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