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In the context of pregnancy, the usefulness of genetic testing applies not only to fertility studies. DNA analysis is also a method of diagnosis related to miscarriages. Some couples also want to find out what inherited diseases they can pass on to their babies before planning their pregnancies. What genetic tests are performed to diagnose problems with pregnancy?
Planning of pregnancy and genetic tests
Thanks to DNA tests, it is possible to determine the risk of hereditary diseases in offspring. This is why couples planning to have children decide to undergo genetic testing. This is especially true when she revealed herself to the family of one of the future parents hereditary disease. The basis of family planning based on genetic tests is not only the analysis of DNA material itself, but also a detailed medical interview.
In this way, it is possible to assess the likelihood of developing cystic fibrosis, phenylketonuria or fragile X chromosome syndrome (FraX) in a child. Even before trying for a baby, an appropriate set of DNA tests can identify a potential risk of infertility.
- Learn more about DNA testing and its course: What are genetic tests and how do they work?
Genetic testing – infertility and miscarriages
The problem of conceiving a child affects many couples. Various diseases, including those of genetic origin, may prevent a woman from getting pregnant. FROM DNA mutations some cases of miscarriage are also associated. The disturbing test results are also an indication for genetic testing. In men, this may include sperm counts below 5 million / ml. The causes of female infertility may be primary amenorrhea or premature ovarian failure.
It should be remembered that problems with getting pregnant are often the result of diseases such as endometriosis, polycystic ovary syndrome, diseases of the thyroid gland, pituitary gland or adrenal glands, as well as venereal diseases, diabetes, cancer of the testicles and ovaries. One should not forget about the influence of stress and irregular intercourse on the chances of fertilization.
If the problem is maintenance of pregnancyand the woman has experienced several miscarriages, DNA tests will allow you to verify whether the problem is genetic. In this case, attention is paid to:
- MTHFR gene – a mutation in it increases the risk of miscarriage and fetal genetic defects. The reason for this MTHFR mutation effect is a problem with folic acid absorption and an increase in homocysteine levels. Folic acid deficiency poses a risk that a baby will be born with Down’s syndrome.
- F5 and F2 genes – their mutations in women are associated with the development of congenital hypercoagulability and make it difficult to report pregnancy because blood clots are formed in the placenta.
- IGF2 gene – studies of this gene are mainly carried out in men, because IGF2 polymorphism increases the risk of recurrent miscarriages.
Genetic testing for infertility in women
sets DNA testing for women trying to understand the causes of infertility may include the analysis of:
- karyotype – the test consists in determining the number of chromosomes and learning about their structure;
- FMR1 – if the tests show a mutation of this gene in a woman, the likely cause of problems with conception is premature ovarian failure. In addition, there is a risk of having a child with FraX syndrome.
- CFTR – changes in this gene are a source of fertility problems in both men and women. In the case of women, they cause menstrual disorders and excessive mucus thickening. It is CFTR that determines hereditary cystic fibrosis.
- CYP21A2 – the mutation directly affects adrenal hyperplasia, which leads to problems with the production of sex hormones and, consequently, fertility.
Genetic tests for male infertility
As in women, also in men, genetic diagnosis of infertility includes karyotyping and testing for mutations in the CFTR (sperm reduction or absence) and CYP21A2 genes. Additionally, attention is paid to:
- AZF gene on the Y chromosome – possible fertility disorders are associated with impaired spermatogenesis, i.e. insufficient sperm count.
- AR – a mutation of this gene also leads to a reduction in the number of sperm in the semen or their complete absence.
DNA testing prices it is about PLN 200-500 for a single genetic test (eg CFTR mutations). In the case of full infertility packages for women or men, the total cost will be over PLN 1000.
- Take care of your health and perform genetic tests for breast and ovarian cancer or prostate cancer.
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