WE CAN ANSWER YOUR QUESTIONS ABOUT
YOUR UNBORN BABY TODAY

Today, we are able to exclude the presence of trisomy 21, 18 and 13 as early as in the first trimester of pregnancy thanks to our TRISOMY test – a non-invasive, safe and painless test based on a sample of maternal blood.

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About TRISOMY test

TRISOMY test is a non-invasive maternal blood test which can – thanks to its high sensitivity and specificity – exclude the presence of chromosomal abnormalities as early as in the 11th week of pregnancy. If the mother-to-be wishes to know, the test can also determine the sex of her unborn baby.

Compared to other screening methods, TRISOMY test:

  • has a higher sensitivity and specificity with regard to the disorders monitored,
  • minimizes false positive results,
  • reduces the number of necessary amniocenteses,
  • poses no risk to either the mother or the child.

If the mother-to-be wishes to know, TRISOMY test can also determine the sex of her unborn baby.

Fetal DNA is already present in maternal blood in early stages of pregnancy. Thanks to a special screening laboratory procedure, it is possible to isolate and analyse foetal DNA to determine the risk of trisomy (three identical chromosomes).

 

Reliably

thanks to high sensitivity

Safely

without any sampling risks

Painlessly

using only maternal blood

Quickly

results available within 5 days

Timely

as early as in the 11th week of pregnancy

middlebox_logo-trisomy2

 

The test can exclude

frequent chromosome number disorders (chromosomes 21, 18 and 13) called trisomy *

It can detect

potential false positive results of biochemical prenatal screening tests.

It minimizes

the necessity of amniocentesis (invasive sampling of amniotic fluid).

It can determine

the sex of your unborn child, if you are interested to know.

* the cause of Down, Edwards and Patau syndromes

Down syndrome detection rate

Screening method
Test availability
Down syndrome detection rate
TRISOMY test2
Available from the 11th week of pregnancy*
> 99 %3
TRISOMY test XY2
Available from the 11th week of pregnancy*
> 99 %4
TRISOMY test +2
Available from the 11th week of pregnancy*
> 99 %4
Combined test1,2
Available from the 10th week of pregnancy
80 %
Triple test1,2
Available from the 14th week of pregnancy
74 %
Serum integrated test1,2
Available from the 14th week of pregnancy
85 %
Integrated test1,2
Available from the 15th week of pregnancy
92 %

1  The percentage indicates the number of positive results detected by the screening test at a false positive rate of 4.5 %.
2 The percentage refers to no other foetus defect than Down syndrome.
3  In an extended validation study, TRISOMY test showed a sensitivity of 100% (95% Confidence Interval 83.89–100%)       and a specificity of 99.95% (95% Confidence Interval 99.70–100%)
4 Compared to standard TRISOMY test screening, the detection sensitivity of TRISOMY test XY and TRISOMY test + is comparable, possibly even higher.

* In compliance with a resolution adopted by the Ethics Committee of the Slovak Ministry of Health, our laboratory only provides test results to patients once they have completed their 12th week of pregnancy. The test result is disclosed and interpreted to the patient by the doctor who referred the patient for the test.

Read more about the sensitivity of non-invasive prenatal testing (NIPT)

Who is TRISOMY test designed for??

TRISOMY test is suitable for any pregnant woman from the 11th week of pregnancy.

Compared to traditional screening methods, TRISOMY test has higher sensitivity and specificity rates for the detection of the trisomy types it is designed to monitor. As a result, it provides a significantly lower number of false positive results.

It is particularly suitable for pregnant women:

  • who have concerns about their baby’s potential disability as a result of one of the trisomy types monitored;
  • who are 35 or older at the time of childbirth and whose biochemical screening test results were negative (combined test, triple test, serum integrated test, integrated test);
  • who conceived as a result of IVF;
  • with positive biochemical screening results, which have to be confirmed by further testing (amniocentesis);*
  • whose ultrasound screening test results suggest a higher risk of the trisomy types monitored;*
  • who have already carried babies with a chromosomal abnormality before;*
  • whose parent(s) has/have been diagnosed with Robertson balancing translocation (an increased trisomy 13 or 21 risk);*
  • pregnant women who have suffered recurrent miscarriage.*

* The screening test must be preceded by a genetic consultation.

TRISOMY test is also advantageous in the event of gynaecological and obstetrical contraindications,** which may render invasive prenatal testing (amniocentesis) complicated, such as:

  • increased miscarriage risks,
  • ongoing anticoagulant treatment (impaired blood clotting),
  • immunization risk due to Rh incompatibility (Rh-negative),
  • the period between the 14th and the 16th weeks of pregnancy (increased risk of complications caused by amniocentesis),
  • placenta praevia,
  • uterine fibroids.

** Please, consult your gynaecologist/obstetrician about all obstetrical contraindications.

Before you decide to go ahead with non-invasive prenatal testing, consult your gynaecologist or a specialist in the field of clinical genetics. Ask them for more details about the purpose, advantages and potential risks involved, inquire about alternatives to TRISOMY test, and make sure you fully understand all the information provided.

Remember to inform your doctor about any relevant details related to your condition that might be decisive in choosing the most suitable healthcare procedure.

TRISOMY test results

Non-invasive prenatal test results provide information about a selected number of the most frequently occurring genetic chromosomal disorders (up to 85 % of all foetal genetic disorders). It must be borne in mind that they cannot identify all existing genetic or developmental disorders.

If negative, NIPT test results can help you avoid invasive diagnostic testing, such as amniocentesis, which carries certain risks associated with amniotic fluid sampling.

Graf - percentá
The sensitivity and specificity of the TRISOMY test is more than 99 %

Please note: Despite its high sensitivity and specificity in detecting fetal chromosome 21, 18 and 13 trisomy, TRISOMY test is considered a type of screening, not a diagnostic method. Consequently, a positive result must always be confirmed by amniocentesis or chorionic villi sampling.

A negative TRISOMY test result need not be confirmed by diagnostic amniocentesis, which means, in most cases, that the mother-to-be can avoid invasive tests and the risks they come with.

In the event that your TRISOMY test result is positive, you should arrange an appointment with a specialist in genetics, who will refer you for examinations required in the circumstances.

In a small percentage of cases, the method does not lead to unequivocal results and the laboratory analysis is concluded to be unsuccessful. In the circumstances, such results are labelled “non-informative”, i.e. of no diagnostic value. Chromosome analysis may be unsuccessful because of a low fetal DNA concentration in maternal blood. However, a low fetal DNA concentration in maternal blood is not to be understood as a reason for concerns as it occurs naturally in about 5% of all pregnant women. The concentration of fetal DNA gets progressively higher further on in pregnancy.

*If a blood sample cannot be processed by the laboratory in accordance with the principles of good laboratory practice, or if the analytical results do not provide an answer to the diagnostic question, the laboratory offers a repeat examination based on the same blood sample free of charge (in the circumstances, the period for the delivery of test results will change from 5 to 8 days).

If a repeat examination based on the same blood sample yields a non-informative result, the mother-to-be will be advised to repeat the test 14 days later, which is free of charge and almost always leads to unequivocal test results.