MEDICAL EXAMINATIONS FOR COUPLES | ANTONIS MAKRIGIANNAKIS

MEDICAL EXAMINATIONS FOR COUPLES

TESTING THE MAN

Medical history

Initially, a complete history of the man should be taken; it should contain the known medical history and any findings of the physical examination.

Semen analysis (spermogram)

Semen analysis remains perhaps the most valuable tool for male infertility assessment. At least two samples must be tested by the laboratory to avoid misdiagnosis. The sample should be produced and checked according to the World Health Organization (WHO) criteria, in order to ensure comparability between different laboratories. More specifically, the duration of sexual abstinence before the test should be 2-3 days; if the sample is produced outside the laboratory, it should be brought in within one hour. During transportation, the sample should be kept in a pocket, close to the body (to avoid excessive cooling or heating). Normal semen parameter values, according to the WHO (WHO manual, 5th Edn., 2010) are:

Liquefaction time: 30-60 min

Semen volume: ≥1.5 ml

pH: 7.2

Sperm cell count: ≥15,000,000/ml

Total sperm cell count: ≥39,000,000

Sperm morphology (normal forms): >14%

Anrisperm antibodies: ≤50%

Round cell count: <5,000,000

Semen culture

A culture of the seminal fluid is usually done during the investigation of infertility, in order to detect the presence of germs that may have infected the genital tract. The culture may be recommended after a semen analysis, in which a large number of cells indicative of infection may have been observed.

Semen culture is different from semen analysis. The man may produce a semen sample regardless of the duration of abstinence, and must also comply with specific instructions for collecting the sample. Specifically, the man needs to urinate first, then wash his genialia thoroughly and wipe with a clean towel. The sample may then be collected into a sterile container. Then, the sample should be brought to the laboratory within 3 hours.

Semen culture is a valuable test; it helps detect and treat several urogenital infections.

Imaging the genital tract

Several pathological conditions, more or less serious, affect the scrotum. Scrotum ultrasound and triplex scan are first-line tests for all such conditions. These tests are painless, fast, and reliable; they directly provide the clinician with all the information necessary to diagnose correctly most scrotum-related problems. Scrotal ultrasound allows to control the position, size and morphology of the testes and epididymides; the triplex scan allows to check the blood flow in the vessels of the region, in order to diagnose various medical conditions. Ultrasound and triplex scans can provide directly, easily, and promptly, all the necessary information about the anatomy and pathology of the scrotum.

Hormonal profile

During the infertility investigation of a man, it is essential to measure the blood levels of certain hormones; these may directly or indirectly affect sperm production. The main hormones to measure are:Testosterone, FSH (follicle-stimulating hormone), LH (luteinizing ormone), PRL (prolactin), TSH (thyroid-stimulating hormone), E2 (estradiol) and cortisol.

Investigating the male hormonal profile is important when examining why a man presents with a reduced sperm count, without any other apparent reason, such as varicocele, testicular cancer, ejaculatory duct obstruction etc..

Virological testing

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).

DNA Fragmentation

Scientific research suggests that spermatozoa with a high percentage of DNA fragmentation are less likely to yield a healthy pregnancy. A statistical analysis of hundreds of semen samples showed that men with sperm DNA fragmentation rate of more than 30% have a significantly lower fertility potential (fewer pregnancies, double miscarriage rate). DNA fragmentation is due to endogenous and exogenous factors. The major exogenous DNA fragmentation factor is oxidative stress. The use of antioxidants may help.

Genetic testing

Karyotype

Men with azoospermia or oligozoospermia need to be karyotyped, in order to check for possible chromosomal abnormalities, such as Kleinefelter syndrome (46XXY).

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.

TESTING THE WOMAN

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.

Ultrasound scan

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

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.

Hormonal profile

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.

Virological testing

Genetic testing

1. Karyotype

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.

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