Infertility diagnosis in women

The diagnosis of female infertility is more complex and, unfortunately, more often invasive than in the case of a man.

Hormone tests

One of the first and essential steps in the diagnosis of female infertility is to perform basic hormone determinations.

Through the determination of sex hormones and hormones that regulate ovarian function, such as FSH, LH, oestradiol, progesterone and prolactin, it is possible to check whether ovulation is proceeding correctly and to exclude infertility due to endocrine disorders. 

The endocrine system is very complex, so it is worth extending the diagnosis to include the determination of thyroid hormones: TSH, FT3, FT4, anti-TPO.

In order to determine the ovarian reserve, which corresponds approximately to a woman’s reproductive potential, it is important to determine the concentration of the AMH hormone. AMH evaluation is a very useful test in the differential diagnosis of disorders such as polycystic ovary syndrome (PCOS) or premature expiry of ovarian function. 

Gynaecology ultrasound

A gynaecology ultrasound test, including a 3D test, is performed to assess anatomical abnormalities in the reproductive organs that may make pregnancy difficult or impossible. 2D ultrasound is performed routinely at most appointments.

Evaluating fallopian tube patency – (HSG, SONOHSG i HyFoSy)

One of the causes of infertility may be an obstruction of the fallopian tubes.  A simple transvaginal ultrasound does not allow an accurate analysis of the uterine cavity or an assessment of the patency of the fallopian tubes. For this purpose, more advanced diagnostic techniques such as HSG, sonoHSG and HYFoSy (hysterosalpingography, sono-hysterosalpingography and hysterosalpingogram with foam contrast) are performed.

The examination is helpful for the diagnosis of changes in the uterine cavity such as polyps, submucous myomas or intrauterine adhesions.

HSG (hysterosalpingography) – is a method involving the insertion of an iodine-based shadowing agent into the uterus and fallopian tubes (if they are unobstructed) and visualising them on X-rays. The examination is carried out in the gynaecological chair. The shadowing agent is introduced after insertion of a disposable catheter or Schultz apparatus into the cervix.

A less invasive but also less accurate method of testing the patency of the fallopian tubes is Sono-hysterosalpingography Sono-HSG, using colour Doppler with ultrasound guidance.  The contrast medium here is saline and the tiny air bubbles it contains. This technique is ideally suited for screening.

The most accurate and, at the same time, most comfortable method of evaluating the patency of the fallopian tubes is an examination using special foam contrast, with 2D or 3D ultrasound guidance (HyFoSy).

The contrast that fills the woman’s reproductive organs during the examination lines up its shape, depicting any abnormalities accurately. In a situation where the fallopian tubes are obstructed, the shadowing agent does not flow through them into the peritoneal cavity. 

A fallopian tube patency test is carried out on medical recommendation in order to make a diagnosis or to determine precisely the specific nature of an existing disorder.

Laparoscopy

If fallopian tube obstruction is suspected in the above diagnostic tests, laparoscopy is performed when justified. Gynaecological laparoscopy is performed for both diagnostic and therapeutic purposes – during the procedure, in addition to verifying the patency of the fallopian tubes, intraperitoneal adhesions can be removed or fallopian tube plastic surgery can be performed. Laparoscopy is also recommended as testing the patency of the fallopian tubes when endometriosis or adhesions are additionally suspected (e.g. after previous surgery or inflammation of the appendages, including that caused by chlamydia), and when adenomyosis or pelvic pain of unknown origin is suspected.  The procedure is performed under general anaesthesia.

Diagnostic and operative hysteroscopy

Hysteroscopy is an important gynaecological procedure for the diagnosis and treatment of problems such as infertility of unclear cause, recurrent miscarriages, recurrent implantation failures after good quality embryo transfers and abnormal uterine bleeding. Hysteroscopy allows a direct assessment of the uterine cavity – its size, shape, evaluation of the fallopian tubes and endometrium. During hysteroscopy, sections of the endometrium can be taken for further examination (e.g. immunohistochemistry for the presence of inflammatory cells [plasma cells] or immunological tests).

We distinguish between two types of hysteroscopy: diagnostic and operative.

Diagnostic hysteroscopy plays a particularly important role in the diagnosis of endometrial pathology, including chronic inflammation, preneoplastic conditions and cancer. It is used to examine and diagnose abnormalities of the uterine cavity.

Operative hysteroscopy is used to treat conditions detected during diagnostic hysteroscopy. Operative hysteroscopy is performed immediately during the diagnostic hysteroscopy or at a later date if special preparation of the patient for the procedure is required.

Bacteriological tests 

Infections of the genitourinary system are usually associated with unpleasant symptoms such as itching, burning and discharge. However, many cases of infection of the reproductive organs are asymptomatic, with serious consequences. 

Bacteriological tests in the diagnosis of infertility include tests for pathogens such as chlamydia, mycoplasma and ureaplasma. If left untreated, they can lead to serious complications such as inflammation of the fallopian tubes, ovaries, cervix and uterus, etc.  This can result in difficulties getting pregnant. 

These bacteria are sexually transmitted, so if infection is confirmed in women, it is necessary to simultaneously administer antibiotics to the partner.

Nowadays, molecular tests are increasingly being used in microbiological diagnosis in infertility to effectively diagnose chronic inflammation of the endometrium, which can be the cause of difficulties in getting pregnant, even after treatment in an in vitro fertilisation programme. Such tests include the ALICE and EMMA tests. These tests also provide a complete assessment of the reproductive tract microbiome.

Endometrial Receptivity Analysis

In situations of recurrent failure of implantation of good-quality embryos in an in vitro fertilisation programme, advanced genetic tests to evaluate endometrial receptivity are used. Such tests (e.g. ERA) make it possible to determine with a high degree of accuracy the optimum time at which embryo transfer should be performed (in the so-called “implantation window”).