It is not for nothing that infertility is called the "plague of the 21st century": according to WHO experts, about 50 million couples worldwide cannot have a child due to reproductive difficulties in a man or woman. And sometimes pregnancy does not occur due to family infertility, often caused by genetic mutations. That is why it is important to check the health of both partners at the stage of pregnancy planning.
Assessing the risks of transmitting genetic mutations and checking reproductive health is not about suspiciousness or distrust of each other, but a responsible approach to childbirth.
Sistema Biotech has developed genetic tests to assess the reproductive health of a couple: PreMama, PrePapa.
Genetic research PreMama
PreMama is a genetic test providing a comprehensive assessment of the health of a woman planning a pregnancy. For conception and a successful pregnancy, it is crucial that all the systems (hormonal, receptor, metabolic, microelement) function correctly. The health of these systems can be determined by means of one single DNA test.
The PreMama genetic study will help answer non-obvious questions about the cause of pregnancy failure, and enable the doctor adjust the treatment strategy. And for those who plan to become parents not right now, but a little later, a DNA test will provide the information on how to adjust your lifestyle so that pregnancy occurs without any problems.
A DNA test will help reveal specific genetic characteristics of your body, which play an important role not only in the process of child formation, but also in the course of pregnancy and the birth. The study includes the identification of frequent polymorphisms in the genes AGT, NOS3, MTHFR, MTR, MTRR, FGB, F5, F2, SERPINE1, TP53, LIF, MDM4, MDM2 and many others.
For example, mutations in the MTHFR gene are associated with complications during pregnancy. Women with polymorphism in the gene may experience placental detachment, fetal hypoxia or preeclampsia. Carriers of the AGT mutation often experience vascular complications during pregnancy and hormone replacement therapy. With the information about your body characteristics a pregnancy management strategy can be built up with your doctor in advance, and you can provide maximum protection for yourself and your baby.
PrePapa is a genetic test that is suitable for a comprehensive assessment of a man’s reproductive health. According to the latest estimates, 45−50% of infertility in couples is caused by male factors. The responsibility of a man at the stage of pregnancy planning is to make sure of his health, and, if necessary, to adjust his lifestyle and carry out treatment in time.
Having passed just one test, a man receives a detailed report with comments from a geneticist about the individual characteristics of his body. The study also identifies a list of frequent mutations in the CFTR, PRM1, LIG4, NFE2L2, NOS3, AR, LHCGR, FSHB, CYP19A1, CYP17A1, MTHFR genes and many others).
In addition to complex DNA studies, you can pass separate individual tests.
DNA test for genetic predisposition to endometriosis
Almost 1/3 of the causes of female infertility is associated with endometriosis. Endometriosis occurs when cells in the lining of the uterus (endometrium) spread outside the uterine cavity. Having started the treatment of endometriosis in time and knowing the tendency to its formation, it is possible, together with the gynecologist, to make a competent prevention of this disease. This genetic study includes the determination of frequent polymorphisms in the ESR1, TP53, CYP17A1, PGR, ICAM1 genes.
DNA test for genetic predisposition to uterine fibroids.
Uterine fibroids are nodular benign tumors that develop in the muscular layer of the uterine wall. According to statistics, this is one of the most common tumors of the reproductive apparatus and in 25% of cases is the cause of infertility in women.
DNA test for genetic predisposition to early development of uterine fibroids.
Usually, uterine fibroids occur in women after the age of 35−40. But the presence of certain genes can provoke the early appearance of this neoplasm. The study includes the determination of frequent polymorphisms in the CYP1A1, CYP17A1, COMT genes.
DNA test for genetic predisposition to the development of complications in long-term hormonal contraception.
with estrogen-containing and combined drugs.
The study includes the determination of frequent mutations in the F5, F2, BRCA1, BRCA2 genes.
DNA test for genetic predisposition to implantation disorders.
Implantation is the attachment of an embryo to the lining of the uterus. Successful implantation depends not only on the quality of the embryo itself, but also on the maturity of the endometrium, that is, the readiness of the uterine mucosa to accept the developing embryo. It is often at this stage that difficulties arise and pregnancy does not occur. But now reproductive specialists know how to avoid this problem and make sure that the embryo is securely “fixed” in the uterus. The study includes the determination of frequent polymorphisms in the TP53, LIF, MDM4, MDM2, USP7, ESR1, TNF genes.
DNA test for genetic predisposition to the occurrence of defects in folate cycle enzymes.
According to experts in the field of obstetrics and gynecology, only about 30−50% of pregnancies proceed physiologically normally, and this percentage is constantly decreasing. The most common complications during pregnancy, apart from early toxicosis, are miscarriages, which end up to 15−20% of pregnancies, and premature births (6−10%). Approximately 8% of pregnant women develop oligohydramnios, 3−8% - preeclampsia and eclampsia, 2−14% - gestational diabetes mellitus. It is possible to find out the tendency to the appearance of these features of the course of pregnancy even at the stage of planning a child. The study includes the determination of frequent polymorphisms in the MTHFR, MTR, MTRR genes.
DNA test for genetic predisposition to pregnancy complications and fetal pathology.
The study includes determining the risks of neural tube defects, fetoplacental insufficiency, fetal growth retardation, placental abruption, preeclampsia, preembryonic and embryonic loss. The study includes the determination of frequent polymorphisms in the AGT, NOS3, MTHFR, MTR, MTRR, FGB, F5, F2, SERPINE1 genes.
DNA test for genetic predisposition to miscarriage due to endothelial dysfunction (APLS, preeclampsia).
The study includes the determination of frequent polymorphisms in the F5, F2, MTHFR, CYP17A1, SERPINE1, ACE, F13A1 genes.
DNA test for genetic predisposition to thrombophilia.
Thrombophilia during pregnancy, according to statistics, is the cause of habitual miscarriage in 17% of cases and the reason to address the doctor for women with the problem of spontaneous miscarriages. This study includes the determination of frequent polymorphisms in the F5, F2, F7, FGB, MTHFR, MTR, MTRR, ITGA2, ITGB3, AGT, ACE, NOS3, ESR1 genes.
DNA test for genetic predisposition to gestoses and preeclampsia.
Preeclampsia and gestoses are complications that occur in late pregnancy in 3−8% of cases. These diseases can provoke premature birth. The study includes the determination of frequent polymorphisms in the F5, F2, NOS3, AGT, SERPINE1 genes.
DNA test for genetic predisposition to polycystic ovary syndrome.
Polycystic disease (PCOS) is a hormonal disorder in which cysts (immature eggs) accumulate in the ovaries, and the ovaries themselves can increase in size up to 5 times. PCOS can block ovulation, cause an unstable menstrual cycle, and prevent pregnancy. The study examines polymorphisms in the INS, PPAR-y, CYP11A1, and AR gene.
DNA test for genetic predisposition to hirsutism and hyperandrogenism.
Hyperandrogenism in women is a group of endocrinopathies characterized by excessive secretion or high activity of male sex hormones in the female body. Manifestations of various syndromes, similar in symptoms, but different in pathogenesis, are metabolic, menstrual and reproductive disorders, androgenic dermopathy (seborrhea, acne, hirsutism, alopecia). The study includes the determination of frequent polymorphisms in the CYP21A2, CYP17A1, INS, FSHR, SRD5A2 genes.
DNA test for genetic predisposition to hyperandrogenism and polycystic ovary syndrome (PCOS).
Often these diseases occur in combination. The study includes the determination of frequent polymorphisms in the ADIPOQ, AR, CYP11A1, CYP17A1, CYP21A2, DENND1A, FSHB, FSHR, INS, LHCGR, MTNR1B, PPARG, SRD5A2 genes.
DNA test for genetic predisposition to infertility in men.
The study is based on the analysis of mutations in the CFTR gene and microdeletions of the Y chromosome. The integrity of the Y-chromosome is a necessary condition for the normal structure and functioning of the male reproductive system. Mutations of the CFTR gene can lead to the development of obstructive azoospermia — the absence of sperm in the seminal fluid due to bilateral obstruction of the vas deferens, and cause male infertility.
In addition to complex DNA studies, you can pass separate individual tests.
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