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Fetal Genetic Tests - The TRISOMY Test


We all want our baby to come to the world in a healthy way, so it is important that we make responsible choices right now.

During screening, different screening diagnostic procedures are used to determine if any genetic abnormalities are present. However, for a well-rounded woman, it is often a serious dilemma when and what tests to take and what aspects to consider when deciding.Fetal Genetic Tests - The TRISOMY Test Currently, the most modern and reliable screening tests are available in our country, New Generation Maternal Examination (NIPT: Non-Invasive Prenatal Test). These are the tests DNA from the anthrax is analyzedto help determine fetal risk for a number of genetic disorders.

Advantages of NIPT tests

The ъn. in contrast to invasive interventions (chorionic bladder sampling, amniocentesis), where a small tumor is introduced into the abdomen and into the uterus, the advantage of being risk-free is that they produce fewer false alarms, and they have an extraordinary 99 percent reliability. The reliability of NIPT tests is close to the reliability of invasive tests. Just for comparison, here are some recognition rates for other conventional pregnancy screenings:
  • Maternal serum biochemical screening test is 60-70 percent
  • Fetal lobe size 60-80 percent
  • Combined test 90-93 percent

No diagnosis!

It is important to know that NIPT tests are a screening test, cannot be considered diagnostic (False positives are still not 100%). This means that positive results should always be confirmed or corroborated by amniocentesis or chorionobohol sampling.

They are a genetic test

In Hungary, NIPT examinations are in accordance with current laws qualify as a genetic test, both prior to performing the screening test and in interpreting the results, providing clinical genetic mediation advice to those who require it.

Briefly about the TRISOMY test

Currently, the TRISOMY Test is the most favorable non-invasive Prenatal Test among the NIPTs available in our country. With this test, the most common fetal chromosome aberration can be detected with more than 99 percent accuracy, and the fetus can be diagnosed, if it is found in the parents with a twin pregnancy.
  • trisomy 21 of chromosome 21 (Down syndrome or Down syndrome),
  • trisomy 18 of chromosome 18 (Edwards syndrome or Edwards syndrome),
  • trisomy 13 of the chromosome 13 (Patau-kur or Patau syndrome).
The method is developed by young Slovak scientists, molecular biologists.

How accurate is the TRISOMY test?

The TRISOMY test is characterized by high sensitivity (sensitivity) and specificity (ie specificity), which compares favorably with traditional screening tests. if one of them is present, the test will be positive. This test has a sensitivity above 99 percent for Down, Edwards and Patau syndrome, which means that the accuracy of the test is greater than 99 percent. The specificity there is no one of the three types of trisomy. The TRISOMY test also applies to Down, Edwards, and Patau syndrome Over 99 percent. This number coefficient means that it identifies with an accuracy of more than 99 percent those who do not have the parameter tested.

Who is recommended to take the TRISOMY test?

First of all, expectant mothers who are already over the combined test, and because of their high or medium risk for Down's course, want to perform a non-invasive, high-precision, and at the same time favorable, prenatal test.
It is also recommended for them
  • who have already reached age 35, regardless of the negative result of their biochemical screening test (eg combined test)
  • who got pregnant artificially
  • from which the results of biochemical screening tests are high / or intermediate risk
  • subject to ultrasound screening for increased risk of trisomies 21, 18, and 13
  • who have had chromosome aberrations in their previous pregnancies
  • who want to avoid amniotic fluid sampling
  • who have had spontaneous miscarriage several times before

In what special cases is the TRISOMY test an alternative?

The use of the test in the case of congenital and fertile contraindications (eg increased risk of miscarriage, posterior septum, HIV infection, blood clotting disorder) with an invasive fetal test.

When can you take the test?

The TRISOMY test can be performed from the 11th week of pregnancy. It is also important to know that it is rare (in 4 to 5 percent of cases), but it may occur that, for some reason, there is not enough fetal DNA in the mother's blood, and this may require a repeat blood test, of course.

How is the exam done?

Approximately 10 ml of blood is withdrawn from the mother and sent to the lab, where the results are sent back to the patient's physician for special software data analysis and evaluation.

How long does it take to get results?

From entering the Central Laboratory to submitting your results electronically 5-7 business dayswhile we get the results to hand.

If the test is positive

In case of a positive result of the TRISOMY test, it is necessary to confirm the result with a sample of fetal or amniotic fluid and with the help of a chromosomal examination, which can be performed by the God of God.

If the test gets negative

In this case, a diagnostic test is not required to confirm the result. The next important genetic test is the week 18 genetic ultrasound.

Things to watch out for when conducting a test

There are also special cases where you need to take great care in choosing the date of your TRISOMY test:
  • In the case of twin syndrome - when the onset of twin pregnancy occurs, but one of the fetuses occasionally dies, this must stop by the 8th week, and at least 8 weeks after the twin fetus has died.
  • If your mother is undergoing heparin haemorrhagic treatment, then there must be 24 hours between the introduction of the haemorrhage and the blood.

Where can I get the exam?

The TRISOMY test can be used in many big cities in Hungary.
Contract partner contact details.

How much does the exam cost?

It's the TRISOMY test $ 109,000. Expert: Olga Borbanyi Krisna Born, Senior Biologist, Center for Genealogical Diagnostics, Nursing, and Family Design.Related articles in genetic screening:
  • Newer men in fetal genetic screening
  • Fetal abnormality screening: to expect the baby
  • Chromosome aberrations: filter, filter, filter