Basic research

Pregnancy is an exciting time in the lives of all couples regardless of their age and experience, requiring not only great emotional preparation, but also a lot of reason. One of the important aspects of this is visiting the doctor and undergoing a variety of examinations throughout the entire period of pregnancy, which usually starts from the first month and lasts until the last week before the baby is born. Throughout pregnancy, the expectant mother can undergo various examinations that are aimed at ensuring optimal conditions for the health and development of the baby and detecting possible problems that require specific treatment or monitoring. They are an important part of preparing for the emergence of a new life and provide peace and security to the mother and baby throughout the entire period of pregnancy.

Here is a list of some of the examinations that are carried out during pregnancy, from the early phase to the later stages:

Pregnancy test (urine or blood test): This is the first examination that is usually done to confirm the presence of pregnancy. The test detects the presence of Human Chorionic Gonadotropin(CHHG, HhG) in a woman's body.

Ultrasound examinations: During pregnancy, a woman usually goes through several ultrasound examinations. They can be used to determine the exact age of the baby, assess its growth and development, check the heart rhythm and detect possible abnormalities.

Blood tests: In the process of pregnancy, regular blood tests are performed. These include checking hemoglobin and iron levels, which can help detect anemia. Also, research may include measuring the levels of various hormones, such as estrogen and progesterone.

When registering a pregnant woman, it is mandatory to let smear and microbiology of vaginal discharge. Despite the concerns of many women, these studies are completely standard and harmless in early pregnancy.

Screening for genetic abnormalities:

More and more pregnant women are trusting non-invasive prenatal tests (NIPT) to rest assured that their pregnancy is progressing well. Based on a blood sample from the mother, these tests provide information about the presence of abnormalities in the baby such as Down, Edwards, Patau syndromes, the most common defects related to sex chromosomes (Turner syndrome, Klinefelter syndrome, Trisomy X, and Trisomy XYY), Triploidy, 5 microdeletion syndromes: DiGeorge syndrome (22q11.2 deletion syndrome), Prader-Willi syndrome, Angelman syndrome, 1p36 deletion syndrome, Cree du Sha syndrome.

The NACE and NACE 24 tests are applicable at an early stage of pregnancy — as early as the 10th week of gestation and are 99.8% accurate, completely safe for mother and baby. For the purpose of the analysis, only a blood sample from the pregnant woman is needed, from which the fetal DNA is isolated and examined. The tests are carried out in the renowned Igenomix laboratory, Spain.

Biochemical screening

(biochemical test) during pregnancy is usually performed between the 9th and 13th weeks. Primary biochemical screening usually consists of a combination of blood tests and an ultrasound examination. Blood tests involve measuring two or three biochemical markers in the pregnant woman's blood. After the results of biochemical screening are obtained, they are combined with the age of the pregnant woman and some other factors (for example, weight, ethnicity) in special algorithms that calculate the individual risk for genetic abnormalities in the baby.
It is important to note that biochemical screening is a risk assessment, not a diagnosis. If the risk profile indicates a high risk for a genetic abnormality, more advanced and accurate tests such as non-invasive prenatal tests (NIPT) may be recommended.

Chorionic biopsy

This is a procedure in which a sample of chorionic fiber is takenwrapped around the fetus (chorion) for the purpose of genetic examination of the baby. This examination is done in order to detect congenital genetic abnormalities, such as chromosomal aberrations and genetic hereditary diseases. Chorionic biopsy is usually performed between the 10th and 12th week of pregnancy.
Although a chorionic biopsy can provide important genetic information, it is associated with a significant risk of causing problems such as bleeding, infections and the possibility of premature birth. Therefore, the procedure is carried out only after a thorough risk assessment and after informed consent on the part of the pregnant woman. Always consult your gynecologist or geneticist to get detailed information to decide whether chorionic biopsy is right for you.

Fetal morphology

Also known as the II trimester ultrasound examination, is a procedure to evaluate the anatomical development of the baby during pregnancy. This procedure is performed using an ultrasound probe and focuses on the detailed image of the various organs and structures of the baby. Fetal morphology is usually performed between the 18th and 22nd week of pregnancy. This time is chosen because during this period the baby is sufficiently developed to see the main organs and anatomical details. During the examination, the doctor checks for the presence of any unusual structures, defects or abnormalities that may be an indication of various genetic or congenital problems.

Amniocentesis

This is a procedure in which a sample of the amniotic fluid around the baby in the womb is taken. This sample is used for genetic examination and assessment of the health of the baby. The procedure is performed by inserting a thin needle through the abdomen of the pregnant woman and through the wall of the uterus. Amniocentesis is usually done between the 15th and 20th week of pregnancy.

The risks of amniocentesis include:

• Risk of bleeding: There is a small but real risk of bleeding after amniocentesis. This risk is usually higher in the early weeks of pregnancy and can lead to premature birth or maternal and fetal problems. However, risks are relatively rare and occur in a very small percentage of cases.
• Infections: There is a small risk of infections after amniocentesis, such as infections of the uterus or amniotic fluid. These infections can lead to serious consequences for both mother and baby.
• Harm to the baby: Very rarely, during the amniocentesis procedure, a puncture of the baby's skin, limbs or other organs can occur, which can cause injury or complications for the baby.

Fetal echocardiography:

This is a special type of ultrasound examination that focuses on evaluating the heart anatomy and function of the baby. The procedure is performed by a specialist experienced in ultrasound examinations of the heart and is usually recommended at an increased risk of heart abnormalities or if previous ultrasound examinations or other factors suggest possible problems with the baby's heart. Fetal echocardiography is usually performed between the 18th and 24th weeks of pregnancy.

Recording of heart tones:

This is a procedure in which Doppler ultrasound is used to record the baby's heart tones. The procedure can be used to monitor the baby's heart activity and rhythm, and may be recommended when observing any specific problem or at risk of cardiac abnormalities. The doctor will decide when it is appropriate to perform the procedure based on the medical history and current condition of the pregnant woman

Test to determine the blood group of the baby:

Usually this study is done in the later stages of pregnancy to determine the baby's blood type. This helps to identify the risk of hemolytic disease of the newborn (CHD), which can occur if the rhesus factors of the mother and baby do not match.

Tests for syphilis, AIDS (HIV), hepatitis B and hepatitis C

They are carried out as part of standard prenatal care at different stages of pregnancy. Usually, these tests are mandatory and are offered to all pregnant women, regardless of age, condition and lifestyle. It is important to note that the specific schedule of examinations may vary depending on medical practice, regional guidelines and the individual needs of the pregnant woman. Therefore, it is important to consult your doctor.

These are just some of the general examinations that are carried out during pregnancy. The exact examinations and frequency of their conduct may vary depending on regional clinical practices and the individual needs of the woman. It is important to consult with your doctor to get detailed information and be aware of the recommended examinations for your particular pregnancy.

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