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Non-invasive prenatal tests

They detect the presence of genetic anomalies without risk to mother and child with the highest possible reliability

NON-INVASIVE PRENATAL TESTS – DETECT THE PRESENCE OF GENETIC ANOMALIES WITHOUT RISK TO MOTHER AND CHILD WITH THE HIGHEST POSSIBLE RELIABILITY

Prenatal tests are recommended for all pregnant women because they detect chromosomal diseases that cannot be detected by ultrasound.

Prenatal tests are performed during pregnancy, before the birth of the child, in order to obtain information about the likelihood of possible chromosomal or genetic defects in the fetus. Non-invasive tests are performed without risk to mother and baby.

Prenatal tests are recommended for all pregnant women because they detect chromosomal diseases that cannot be detected by ultrasound.

Our gynecologists especially advise them to pregnant women who are 35 years of age or older and in the case of chromosomal or genetic diseases in the family of either parent.

Unlike invasive tests that carry a certain risk to the pregnant woman and the fetus, non-invasive prenatal tests are performed from a sample of the mother’s venous blood and do not pose any danger, and are extremely reliable.

Prenatal tests are screening tests, that is, they detect the existence of a risk of chromosomal anomalies. They allow us to detect fetuses with a disorder in the number and structure of chromosomes such as the most common trisomies Down syndrome, Edwards syndrome and Patau, and a series of other structural chromosome errors.

The reliability of non-invasive prenatal tests is 99.5% for Down syndrome, 99% for Edwards syndrome, and 79-92% for Patau syndrome.

There is a full range of non-invasive prenatal tests available in the market like Panorama, Nifty, Harmony, etc.

The best prenatal test is the one that meets the specific needs of the pregnant woman with regard to family history and overall health condition, and the selection is made with the advice of a gynecologist.

Non-invasive prenatal tests can be performed as early as from week 10 of pregnancy . By analyzing the so-called cell-free DNA of the fetus from the mother’s blood, prenatal tests can detect the most common genetic disorders with high reliability.

GENETIC DISORDERS THAT CAN BE DETECTED BY NON-INVASIVE PRENATAL TESTS

In a normal pregnancy, that is, with healthy fetal development, there are 23 pairs in each body cell, 46 chromosomes in total.

In the case of chromosomal disorders, an error occurs when dividing a chromosome, which is why a certain chromosome, instead of being paired, is present in 3 copies, for example. This condition is called trisomy. The most common and well-known trisomy is Down syndrome.

Down syndrome

It is one of the most common chromosomal anomalies, occurring on average once in every 700 newborns. We distinguish between partial or complete trisomy of chromosome 21.

One of the risk factors for developing Down syndrome is the age of the mother, that is, the risk is higher in older pregnant women. That is why non-invasive prenatal tests are especially recommended for pregnancy after the age of 35.

People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, breathing and hearing problems, Alzheimer’s disease, childhood leukemia, and thyroid disease.

Edwards syndrome

Chromosomal disorder caused by partial or complete trisomy of chromosome 18. After Down syndrome, it is the second most common chromosomal anomaly.

With this disorder, problems often occur during pregnancy. The incidence of spontaneous abortions and infant mortality with Edwards syndrome is very high.

Today, most cases of trisomy 18 are diagnosed before the baby is born through sonographic diagnostic methods and non-invasive prenatal tests.

Patau syndrome

Trisomy is chromosome 13. With this chromosomal anomaly, there are significant disturbances in the development of the fetus, complex and multiple malformations of the organ are formed.

It affects about one in 8,000 newborns. People with this syndrome often have serious heart disease, which is why about 49% of newborns with Patau syndrome die within the first year of life.

HOW TO CHOOSE THE BEST PRENATAL TEST AND WHAT DOES THE TESTING LOOK LIKE?

Prenatal tests are performed simply, by drawing blood. From a sample of about 20 ml (1 to 2 tubes) of maternal blood, an analysis of free fetal DNA is performed, through which chromosomal anomalies are excluded or detected.

Before testing, it is necessary to consult with our gynecologist who will instruct you in detail in the performance of testing. Depending on your needs and your wishes, your gynecologist will also recommend the best prenatal test for you.

What all non-invasive prenatal tests have in common is that they are more accurate than other screening tests and, unlike invasive tests, are completely safe.

Although various tests of this type are relatively similar, there are still some differences in the technology and sensitivity of individual tests. Some of the most well-known non-invasive prenatal tests are the Nifty test, the Panorama test , and the Harmony test.

How the test is conducted: the consultation is followed by a simple collection of a venous blood sample.

The test does not require special preparation and can be performed by pregnant women regardless of age and the existence of a risk of genetic diseases in the family history.

A non-invasive prenatal test can be performed between 10 and 18 weeks of pregnancy .

RESULTS OF A NON-INVASIVE PRENATAL TEST

With the help of the NIPT test, it is possible to find out with high reliability the probability of trisomies of chromosomes 13, 18 or 21 and chromosomal errors related to sex chromosomes.

Prenatal tests are the so-called screening tests, i.e. they show a risk of chromosomal anomalies. After obtaining the results, our gynecologist will interpret them and give you instructions for further action.

If the prenatal test shows a low risk of chromosomal anomalies, it means that the child is unlikely to have any of the syndromes.

High risk means that there is a significant probability that the child will have a syndrome for which an increased risk is detected. It is important to note that in this case, the results need to be confirmed by additional diagnostic tests that the gynecologist will refer you to.

A non-invasive prenatal test is recommended for all pregnant women. Prior to the development of non-invasive prenatal tests, pregnant women with a positive family history of genetic disorders were referred for invasive prenatal tests such as amniocentesis and chorionic villus biopsy (CVS).

These tests give reliable results, but they pose a risk for serious complications such as miscarriage, bleeding or sepsis. Non-invasive prenatal tests do not carry any risk to the pregnant woman and the fetus.

WHO IS RECOMMENDED FOR A NON-INVASIVE PRENATAL TEST?

Today, an increasing number of pregnant women are opting for non-invasive prenatal tests. An increasing number of women make the decision to become pregnant later in life, so the probability of conceiving a fetus with a chromosomal anomaly increases.

Prenatal tests, on the one hand, bring a certain confirmation that the child is developing normally and eliminate the parents’ fears, while on the other hand, they allow parents and the medical team to prepare and undertake all available, modern therapeutic methods in the event of a genetic or developmental disease of the child.

According to the Croatian Bureau of Statistics, the age of first-time mothers of older age shows a tendency to increase, and today a large number of women give birth in their late twenties or early thirties.

With the age of the pregnant woman, the possibility of developing complications in pregnancy, as well as chromosomal anomalies, increases. For this reason, prenatal tests are especially recommended for pregnant women over 35 years of age.

The non-invasive prenatal test is performed quickly and easily, and the reliability of the results is extremely high.

As the test is completely safe for the mother and child, our gynecologists recommend it to all pregnant women who want detailed and safe pregnancy management.

WHERE TO DO A NON-INVASIVE PRENATAL TEST?

The Gynecology Clinic of the Lohuis Filipović Polyclinic provides medical care using the most modern methods of diagnosis and treatment of women’s intimate health.

We especially nurture collaborative, teamwork that unites experience, knowledge and cutting-edge technology to respond to the specific needs of each patient.

Our goal is successful diagnosis, treatment, patient monitoring, and positive long-term results.

Our multidisciplinary team brings together renowned experts with many years of experience in scientific and practical work.

For a consultation and examination with our expert team, you can contact us by phone at +385 1 2444 646 or via our online form.

Contact us with confidence and let us come up with the best solutions and answers to all your questions together.

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