Medical history and physical examination
Initially, a complete history of the woman should be taken; it should contain the known medical history and any findings of the physical examination.
The ultrasound scan may be considered as the extension of the physician's senses; it helps improve the detection rate of problems which may have an impact on the welfare of the patient. Ultrasound is used in the diagnosis of a wide range of pathologies related to infertility, including uterine malformations, presence of fibroids, polycystic ovaries, hydrosalpinges, and endometriotic cysts. Furthermore, ultrasound may provide basic information on the uterine and ovarian sizes, as well as on the thickness of the endometrium.
The ultrasound scan may be performed either transvaginally or transabdominally. In transvaginal ultrasound, the bladder should be empty, whereas in transabdominal ultrasound, the bladder must be full.
Vaginal fluid culture
A culture of the vaginal fluid is usually done during the investigation of infertility, in order to detect the presence of germs that may have infected the genital tract. Fluid is collected from the vagina and/or the cervix and sent for culture. The vaginal culture is important, because it helps treat a number of infections, which may cause serious problems while being often asymptomatic, such as chlamydia infections.
Hysterosalpingography (HSG) is a special X-ray examination which shows the contour of the uterus and of the two Fallopian tubes. This procedure is used to determine whether the tubes are patent or not. It may also show variations of the shape, or a deformity of the uterus. It may also be used in the diagnosis of Asherman syndrome.
HSG is performed during the first 10 days of the cycle, after the bleeding has ceased.
During the infertility investigation of a woman, it is essential to measure the blood levels of certain hormones; these provide important information on the ovarian function and egg quality. The hormones to be measured are: FSH (follicle-stimulating hormone), LH (luteinizing hormone), E2 (estradiol), AMH (anti-mullerian hormone) and they should be measured on the 2nd or 3rd day of the menstrual cycle. The physician may also request a measurement of PRL (prolactin), as high PRL levels may prevent ovulation, as well as of TSH (thyroid-stimulating hormone), to test thyroid gland function.
Before any assisted reproduction technique is applied, the law requires that both partners be tested for important viruses. THe tests required are: ΗΙV I & II (human immunodeficiency viruses), HBsAg (hepatitis B surface antigen), HCV (hepatitis C virus), VDRL (syphilis).
Chromosomal abnormalities are potential infertility factors. Among infertile couples, the probability of either member of the couple having an abnormal caryotype is 4%. Karyotyping from peripheral blood leads to important information for the study of such cases.
2. Checking for specific diseases which are due to gene mutations
Testing of gene mutations is performed by a specialized genetics laboratory; the results contribute to determining the probability for an individual to develop or transmit a genetic disorder.
Some common genetic disorders are: thalssemia, cystic fibrosis, hemophilia, muscular dystrophy, Huntington disease, congenital hypercholesterolemia etc.. The first two have a higher prevalence in Greece.