Department of Infertility and Human Reproduction
Today, more and more couples are having difficulties to conceiving and fertilizing. According to the World Health Organization, a couple can be considered infertile when, after at least one year of regular intercourse without the use of contraceptives, but fail to get pregnant.
At BioMediGen Diagnostic Centers, a wide range of tests are performed in order to investigate the causes of male and female infertility. A basic rule of the procedure is that both male and female infertility are equally important.
Female Infertility
HORMONAL TESTS (TSH,FT3,FT4 FSH, LH, E2, AMH,PRL,PRG)
Hormonal tests are necessary for the doctor to check if endocrinologically, the woman is healthy. These tests are mostly about the function of the pituitary gland, which produces thyroid hormones (thyroid-stimulating hormone TSH), gonadotropin-releasing hormone or gonadotropins (follicle-stimulating hormone FSH) and prolactin (PRL) .
The thyroid gland with the action of TSH secretes FT3 and FT4 while the gonadotropins with their action in the ovaries cause the production of Estradiol (E2) and Progesterone (PRG). Hormone tests for the thyroid gland can be performed at any time as opposed to gonadotropins and prolactin, which should be performed on days 2 to 3 of the cycle.
Antimyelinating hormone (AMH) is a hormone produced by the cells that surround the egg, being a direct indicator of the number of eggs available. It can be measured all days of the month, as the results are not affected by the phase of the cycle.
HEMATOLOGICAL – BIOCHEMICAL TESTS (General Blood, Blood Group, PT, APTT, Fibrinogen, Potassium, Sodium, Sugar, Urea, Creatinine)
These examinations concern the general health of the woman and are necessary to be done so that the doctor can judge and decide the treatment he can give to each patient, including the other exams.
IMMUNOLOGICAL TESTS (HIV1,2, HCV, VDRL, HsBAg, HB core, Anti HBC, HAV, Wolf Anticoagulants, LA test, Cardiolipin GM, Apoglycoproteins B2-GPI IgG / IgM), Antinuclear Antibodies (ANAs)
Immunoassays (IA) tests the function of the immune system through the presence of antibodies against foreign bodies such as viruses, bacteria or against the body itself. The tests that are required by law in case of in vitro fertilization are for HIV (HIV1,2), hepatitis B (HsBAg, HB core, Anti HBC) and C (HCV) and syphilis (VDRL).
In case of pregnancy are checked mantibodies to Red (Rubella IgG, IgM), Toxoplasma (Toxo IgG, IgM), Herpes (Herpes-I IgG, IgM, Herpes-II IgG, IgM), hepatitis A (HAV) and of cytomegalovirus (CMV IgG, IgM). More specific tests are for antibodies that develop against phospholipids (anti-cardiolipin, IgG and IgM, apglycoproteins B2-GPI IgG / IgM) that are necessary for embryo implantation and placental development. The mechanism by which APAs cause problems in pregnancy is the formation of blood clots and the blockage of blood vessels.
Some women develop antibodies against the genetic material (DNA) of the fetus, which are called antinuclear antibodies (ANA).
The lupus anticoagulant (LA test) is also important because it has a similar mechanism of action (thrombus formation) to APA (Antiphospholipid antibodies).
MOLECULAR TESTS (CFTR, Karyotype, Hemoglobin Electrophoresis, Thrombophilia Factors: Antithrombin 3, Homocysteine, Protein C, Protein S, Protein C resistance, Factor II – Prothrombin G20210A mutation, Factor V – Leiden G 1691A mutation, MTHFR: Homocysteine C677T mutation)
The purpose of Molecular Genetics examinations is to diagnose and prevent diseases due to acquired or inherited damage to human genetic material.
That controls Cystic Fibrosis (CFTR) where mutations in the gene cause reduced production or function of the protein (CFTCR) resulting in the epithelium of the affected organs producing viscous sticky mucus which clogs the pores of the glands with consequent destruction of the organs (fibrosis) and their final insufficiency. The most common mutation that is tested is ΔF508, with a frequency of 54% in the Greek population.
Can be examined 50 mutations of the cystic fibrosis gene, which covers 78% of the known mutations in the Greek population, or can be analyzed the entire cystic fibrosis gene, covering 95-96% of the known mutations of the Greek population. Β-Thalassemia or Mediterranean Anemia (Hemoglobin Electrophoresis), constitutes a quantitative lesion due to the reduced synthesis of globins that forms hemoglobin. Depending on the severity of the condition, the appropriate assisted reproduction procedure is recommended.
The karyotype controls the chromosomal arithmetic and structural composition of an individual. In our laboratory, 20 metaphases are analyzed from a peripheral blood sample where mosaicism over 14% is excluded with a 95% confidence limit.
Predisposing factors for thrombophilia are also tested (Antithrombin 3, Homocysteine, Protein C, Protein S, Resistance to protein C, Factor II – Prothrombin mutation G20210A, Factor V – Leiden G 1691A mutation, MTHFR mutation: C677T mutation) Indicatively, we will mention that the Leiden factor mutation (G 1691A or R506Q-R2) is the main genetic factor of thrombophilia. The mutated gene equal prevails in the normal state leading to differential expression of the disease (mild form in carriers, 10 times heavier in homozygotes).
OTHER EXAMS
Urine culture and vaginal discharge culture is a laboratory test of urine or vaginal discharge, used to diagnose if there is an infection of the urogenital system. Samples for common germs, ureaplasma, mycoplasma and chlamydia are usually tested.
Male Infertility
HORMONIC (TSH,FT3,FT4 FSH, LH,PRL,TESTO, F-TESTO)
Hormonal tests are needed for the doctor to see if the man is endocrinologically healthy. These tests mostly deal with the function of the pituitary gland of the brain, which produces thyroid hormones (thyroid-stimulating hormone-TSH), gonadotropic hormones or gonadotropins (follicle-stimulating hormone-FSH, luteinizing hormone LH) and prolactin (PRL). The thyroid gland secretes FT3 and FT4 with the action of TSH, while the gonadotropins bytheir action on the testes cause the production of Testosterone.
HEMATOLOGICAL EXAMINATIONS (General Blood – Blood Group)
IMMUNOLOGICAL (HIV1,2 ,HCV, VDRL,HsBAg, HB core, Anti HBC, HAV)
Immunoassays tests the function of the immune system through the presence of antibodies against foreign bodies such as viruses, bacteria or against the organism itself. The tests that are required by law in case of In Vitro Fertilization (IVF) are for the virus HIV (HIV1,2), of hepatitis Β (HsBAg, HB core, Anti HBC) and C (HCV) and syphilis (VDRL).
MOLECULAR (CFTR, Karyotype, Hemoglobin Electrophoresis, Y Chromosome, Sperm Aneuploids–Χ,Υ, 18,13,21,15,16,22)
The purpose of Molecular Genetics examinations is to diagnose and prevent diseases due to acquired or inherited damage to human genetic material.
That controls Cystic Fibrosis (CFTR) where mutations in the gene cause reduced production or function of the protein (CFTCR) resulting in the epithelium of the affected organs producing viscous sticky mucus which clogs the pores of the glands with consequent destruction of the organs (fibrosis) and their final insufficiency. The most common mutation that is tested is ΔF508, with a frequency of 54% in the Greek population. Can be examined 50 mutations of the cystic fibrosis gene, which covers 78% of the known mutations in the Greek population, or can be analyzed the entire cystic fibrosis gene, covering 95-96% of the known mutations of the Greek population. Β-Thalassemia or Mediterranean Anemia (Hemoglobin Electrophoresis), constitutes a quantitative lesion due to the reduced synthesis of globins that forms hemoglobin. Depending on the severity of the condition, the appropriate assisted reproduction procedure is recommended.
The karyotype controls the chromosomal arithmetic and structural composition of an individual. In our laboratory, 20 metaphases are analyzed from a peripheral blood sample where mosaicism over 14% is excluded with a 95% confidence limit.
The Y chromosome is found only in men and in this chromosome there is an area (AZF) which is responsible for sperm production. Damage to this area results in moderate oligospermia to azoospermia. Studies have shown that men who have had a child normally (without assistance) are not harmed in this area. The sensitivity and specialization of the technique in our laboratory are approaching 100%.
The test for the presence of aneuploidy in the sperm investigates errors in the formation of sperm at the chromosomal level. Studies show that having aneuploidy in sperm can reduce the chances of a successful pregnancy and is associated with recurrent miscarriages. The chromosomes that are tested are racial (X, Y) and autosomal 18,13,21,15,16,22.
SEMEN EXAMS (Sperm chart, Sperm immunology, Sperm culture, DFI, SDI)
The semen diagram is the main test we currently have in our hands to assess a man’s reproductive ability. Various parameters are controlled and evaluated according to the criteria set by the World Health Organization (WHO). Due to the seriousness of this examination, our laboratory in addition to ISO 9001-2008 has a second quality evaluation system from England (NEQAS) for the validity of our results.
An additional test of the semen is to detect the presence of antisperm antibodies (semen immunology). The presence of antisperm antibodies causes the formation of sperm aggregates so that there are no free sperm to fertilize the egg. This phenomenon is caused by the disruption of the blood barrier of the testicles.
Another test performed in our laboratory is sperm apoptosis or DNA fragmentation (DNA Fragmentation), which examines ‘breaks’ in the ‘DNA helix’ caused by various factors and mainly by oxidative damage. Thus morphologically and kinetically a sample may be evaluated as normal but an apoptosis analysis may show that it ultimately is not. Usually such lesions do not impede the fertilization capacity of the sperm but are responsible for the cessation of embryonic development (repeated embryo implantation failures, biochemical pregnancies, recurrent pregnancies).
The degree of maturity of sperm (DNA packaging) can be measured using the SDI (Sperm Decondensation Index). This test allows us to express as a percentage the degree of maturity of each sperm sample. The result of this test allows us to characterize the sample as fertile or infertile. The combination of all the exams (sperm diagram, DFI, SDI) can give us a complete picture of a sample. So depending on the results we can recommend the appropriate procedure or treatment.
Urine culture and sperm culture is a laboratory test used to diagnose if there is an infection of the urogenital system. It is usually recommended to be done together with the initial test of male reproductive ability.