Genetics

Prenatal Genetics – Tests During Pregnancy

Prenatal diagnosis is a key part of fetal health care during pregnancy. Genetic tests during pregnancy allow us to obtain important information about fetal development and to detect potential genetic and developmental abnormalities early.

The first step is a genetic consultation with our specialists, who will recommend the next steps. If you decide to proceed with a non-invasive prenatal test of the fetus from the pregnant woman’s blood (TRISOMY test), we will take a blood sample immediately after the genetic consultation.

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Genetic Consultation Process

During the genetic consultation, we thoroughly evaluate your personal and family medical history. We approach each patient individually – based on the consultation, we recommend appropriate genetic tests. Our care also includes long-term patient monitoring, enabling us to provide comprehensive and professional healthcare not only for them but also for their relatives. If you wish to consult or re-evaluate an already established diagnosis or procedure, we also offer the option of a second opinion in the form of a consultation.

TRISOMY test

It is a non-invasive prenatal test (NIPT) that can detect the most common chromosomal abnormalities of the fetus with high accuracy, up to 99.93%. If desired, the sex of the fetus can also be determined. This test is completely safe for both mother and child and is performed using a maternal blood sample, most commonly between the 11th and 22nd week of pregnancy. Testing of most samples takes an average of only 5 days, and one of our geneticists will discuss the results with you directly at our clinic.

Thanks to its reliability, it is an excellent complement to prenatal biochemical screening – it can help rule out a positive result without the need for an invasive procedure, such as amniocentesis (amniotic fluid sampling).

During a genetic consultation, we will gladly explain the details, advise you on test selection, and take a blood sample for testing immediately.

The basic TRISOMY test excludes the presence of the most common trisomies:

21 – Down syndrome
18 – Edwards syndrome
13 – Patau syndrome

This test can also be used in cases of multiple pregnancies, but in the event of a pathological finding, it is not possible to determine which fetus is affected.

This is a version of the TRISOMY test that also examines the chromosomal sex of the fetus and sex chromosome number disorders (Turner syndrome – 45,X and Klinefelter syndrome – XXY, XYY and XXX syndromes). Like the basic test, it excludes the presence of trisomies 21, 18, and 13 (Down, Edwards, and Patau syndromes).

In addition to excluding the presence of trisomies 21, 18, and 13 (Down, Edwards, and Patau syndromes), examining the chromosomal sex of the fetus and sex chromosome number disorders (Turner syndrome – 45,X and Klinefelter syndrome – XXY, XYY and XXX syndromes), this version of the test also offers the detection of selected chromosomal microdeletions. The test thus excludes deletions that cause:

DiGeorge syndrome 22q11
1p36 deletion syndrome
Prader-Willi and Angelman syndromes
Cri-du-chat syndrome
Wolf-Hirschhorn syndrome

This is a comprehensive screening test for the examination of all 23 pairs of chromosomes, which detects chromosomal abnormalities across the entire fetal genome: from aneuploidies (incorrect number of chromosomes) to deletions and duplications. The test screens for more than 100 known clinical syndromes. In addition to detailed fetal DNA screening, this test also provides free verification of a positive result by amniotic fluid testing with the GenomeScreen Prenatal® test. This examination offers a very high detection capability, as it analyzes 100% of the fetal genetic material.

In addition to comprehensive screening of all 23 pairs of chromosomes, it includes an extension for the detection of the most common F508del mutation in the CFTR gene, which causes Cystic Fibrosis – one of the most common serious hereditary diseases.

In addition to comprehensive screening of all 23 pairs of chromosomes, it includes an extension for the detection of selected mutations in the DHCR7 gene, which are among the most common mutations causing Smith-Lemli-Opitz syndrome in the Slovak population.

This is a combination of testing all 23 pairs of chromosomes, detecting the mutation causing Cystic Fibrosis, and mutations causing Smith-Lemli-Opitz syndrome.

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Fetal RhD Status Testing

This is a unique test for fetal RhD status from maternal blood, which we perform in our laboratories as the only ones in Slovakia. It is a non-invasive prenatal genetic identification of fetal RhD status based on the analysis of cell-free fetal DNA from the pregnant woman’s blood. The test is important for women with a negative RhD factor (Rh-) whose partner has a positive RhD factor (Rh+). In such a case, there is a risk of Rh-incompatibility, where the fetus has an Rh+ factor and the mother’s immune system may react to its red blood cells by producing anti-RhD antibodies. The test result helps the doctor decide whether the administration of an anti-D immunoglobulin injection is necessary.

BabyGen

BabyGen is a non-invasive genetic test from maternal blood that reliably determines the sex of the child. Blood sampling can be performed as early as the 10th week of pregnancy, but in accordance with the resolution of the Ethics Committee of the Ministry of Health of the Slovak Republic, the laboratory provides the analysis result only after the completed 12th week of pregnancy.

Tests with Amniotic Fluid Sampling (Amniocentesis)

In some cases, it is necessary to perform a genetic test of the fetus using a sample directly from the amniotic fluid (amniocentesis – AMC) or chorionic villus sampling (CVS). Only rarely do we recommend testing fetal umbilical cord blood from a sample obtained by cordocentesis.

Amniocentesis is an invasive procedure in which a small amount of amniotic fluid is collected using a thin needle through the mother’s abdominal wall. The entire procedure is performed under ultrasound guidance. The amniotic fluid sample contains fetal cells, which are then analyzed in our MEDIREX genetic laboratory.

Chorionic villus sampling is used for early genetic diagnosis in cases of serious suspicion of a fetal genetic disorder. Amniocentesis is usually performed from the completed 15th week of pregnancy, while chorionic villus sampling is most commonly recommended in indicated cases between the 11th and 14th weeks.

We can help arrange amniotic fluid and chorionic villus sampling at one of our collaborating workplaces. Currently, we also perform amniotic fluid sampling at our GYNCARE clinic in Bratislava.

We have many years of experience with this type of diagnosis and will gladly answer any questions you may have and advise you during a genetic consultation.

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