Pregnancy consultation and prenatal diagnostics (Prenatal care)

In order for the future pregnancy to proceed without complications, it is necessary for the woman to be healthy. Therefore, it is necessary to undergo regular preventive examinations at your gynecologist from the age of 18.

As soon as you find out about your pregnancy, inform your gynecologist. It is also appropriate to consult if you are planning a pregnancy.

When determining pregnancy, the date of the beginning of the last menstruation (last menstrual period - LMP) is important - pregnancy is calculated from the 1st day of the last menstrual bleeding, while ovulation (release of a mature egg) and its fertilization takes place on approximately the 14th day.

Pregnancy lasts 40 weeks, i.e. 280 days (which is roughly 9 calendar months, which we divide into 3 trimesters - 3+3+3 months):

• First trimester:      1st - 12th week
• Second trimester: 13th - 28th week
• Third trimester:     29th - 40th week

Symptoms of pregnancy:

• Absence of menstrual cycle - period (skipping regular bleeding).
• Increased fatigue and change in moods.
• Change in appetite, morning sickness and vomiting.
• Increasing the volume of the lower abdomen.

Diagnosis of pregnancy:

• Pregnancy is confirmed by a pregnancy test - a hormone that is produced only during pregnancy: the HCG hormone (human chorionic gonadotropin), which is found in the blood and can also be detected in the urine.
• A fertilized egg can be directly visualized on an ultrasound.

A pregnancy test should only be done when the menstrual period is delayed by 2 weeks, because HCG levels as well as imaging methods are reliable only at this time (at that time, the woman is already 4 weeks pregnant).

Confirmation of pregnancy is followed by the first pregnancy consultation (week 6 - 8), which consist of:

• Physical examination (weight and heigh, blood pressure) and medical history assessment (diseases, operations, pregnancies, miscarriages, medications, allergies).
• Pelvic examination and Pap smear (the shape and size of the uterus, the consistency of the cervix and cytology of the cervix).
• Checks of blood and urine (blood count, blood type and Rh factor, biochemistry and serology examination for infections - syphilis, HIV, hepatitis B).
• Ultrasonography will be performed.
• Estimating the baby’s due date.

During a normal pregnancy, check-ups are done every month - weight, blood pressure, vaginal examination (pelvic exam) and ultrasound. Later prenatal care checkups include also examinations for evaluating the presence of in-born anomalies.

Prenatal tests done in the first trimester:

• Genetic screening - first-trimester screening (weeks 10 - 13): Serum Marker Screening Test and Cell-free DNA screening test - see below "Prenatal Diagnostic Tests".
• Preventive examination at the dentist in the first trimester.
• Chorionic villus sampling (CVS) if indicated.
• Early ultrasound (also called first-trimester ultrasound).

Prenatal tests done in the second trimester:

• Maternal blood screening - Serum marker screening test (similar to the blood sampling in the first trimester) scheduled for the second-trimester test at 16 to 18 weeks (4 markers, Quad Screen: alpha-fetoprotein (AFP), estriol, human chorionic gonadostropin (hCG) and inhibin A). Serves for early detection of genetical and morphological anomalies.
• Ultrasound with NT (nuchal translucency) and NB (hypoplasia of the nasal bone) examination, performed between the 11th and 13th weeks. NT/BN are an important markers of healthy development and are used to detect congenital developmental defects (like Down syndrome).
• Morphological ultrasound between the 18th and 22nd weeks is performed (baby’s heartbeat, parts of the body and gender can be seen). Also multiple pregnancies are diagnosed (twins, triplets...).
• Fetal echocardiography - examination of the baby’s heart performed between 18th and 24th week of pregnancy.
• Glucose screening is performed to detect gestational diabetes between week 26 to 28 (it is done with a blood sample taken on an empty stomach and after drinking a solution with sugar).
• Amniocentesis if indicated.

Prenatal tests done in the third trimester:

• Group B streptococcus (GBS) test (group B strep) - Bacteria that can be presented in the vagina or cervix and can cause infection during birth to the baby. A smear is done between the 35th to 37th week of pregnancy.
• Check up at the dentist.

Prenatal diagnostics is a set of examinations that are carried out already during pregnancy (during the development of the baby before birth) and consist of imaging methods (ultrasound), blood sampling (laboratory methods) and some invasive examinations.

Prenatal diagnosis is part of regular preventive check-ups for pregnant women - it focuses on the early detection of congenital developmental anomalies. Belongs here:

• Non-invasive diagnostic:

Blood tests using the mother's blood to estimate certain markers or fetal DNA (small amount of baby's DNA is also in the mother's blood). They are measured in the 10th to 13th week of pregnancy (At the end of first trimester). Used are: 

• Serum marker screening test - (for Alpha-fetoprotein, Pregnancy-associated plasma protein A (PAPP-A), Estriol, Human chorionic gonadotropin, Inhibin A).
• Cell-free DNA screening test (cfDNA) - screening for fetal chromosomal abnormalities "trisomy test" for trisomy 13, 18 and 21 (Down syndrome).

Ultrasonography that measures fetal nuchal translucency (a space on the neck of the baby filled with fluid) for screening of genetical and morphological anomalies.

Blood marker Alpha-fetoprotein and ultrasonography are used to test for neural tube defects.

• Invasive tests for prenatal diagnosis are used in some indicated cases:

Chorionic villus sampling (CVS) - small sample of the chorionic villi (part of the placenta) is removed. This tissue is analyzed in a laboratory to diagnose some morphological and genetical disorders (usually between 10 and 12 weeks of pregnancy).

Amniocentesis - a procedure in  which a sample of the amniotic fluid (fluid around the baby containing some cells of the baby) is taken with a needle through the abdominal wall. These cells can be subsequently analyzed in a laboratory (usually done at 15th week of pregnancy or later).

Percutaneous umbilical blood sampling - a sample of the blood from umbilical cord is taken with a needle through the abdominal wall. Used for chromosome analysis or to detect anemia (low number of red blood cells).