What is

TRISOMY test Complete ?

Exceeding the standards in non-invasive prenatal screening and diagnostics.

Gynekologické vyšetrenie

THE FIRST

the only test of its kind available in Slovakia

UNIQUE

it is able to detect chromosomal disorders across the whole genome of the fetus

SAFE

the price of the test includes free, fast, and high-precision validation of a positive finding using a diagnostic method on a sample of amniotic fluid

TRISOMY TEST COMPLETE : FOR WHOM IS IT SUITABLE?

The test can be taken by any pregnant woman after completing the 10th week of pregnancy, who:

  • wishes to obtain as much information as possible about the health of the fetus;
  • intends to rule out reliably any potential chromosomal disorder of the fetus;
  • became pregnant after an IVF treatment;
  • had a positive result of biochemical screening, or possibly a sonography examination and this needs to be validated by another test (amniocentesis);
  • has had a fetus with a proven chromosomal disorder in the past;
  • was diagnosed (or her partner) with the so-called Robertson translocation (an increased risk of trisomy 13 or 21 of the fetus);
  • has had repeated miscarriages.

 

The test:

  • can be performed in pregnancies using assisted reproduction techniques including the cases with donated gametes (egg in women or sperm in men),
  • cannot be used in multiple pregnancies (i.e. pregnancy with more than one fetus).

 

It is advisable to consider taking TRISOMY test Complete also in cases of gynecological-obstetric contraindications** which may cause complications during invasive prenatal testing (amniocentesis).

 

** You should consult any gynecological-obstetric contraindications with your gynecologist–obstetrician.

TRISOMY test Complete

The first non-invasive prenatal test (NIPT) available in Slovakia which delivers high precision in detecting most chromosomal disorders on all 23 pairs of chromosomes of the fetus.

The test focuses on disorders of any of the chromosomes in the extent enabled by the determined detection parameters. The result of the test offers very high precision.

 

EACH CHROMOSOME IN DETAIL

A healthy human cell comprises 23 pairs chromosomes. A disorder of any of them can severely affect fetal development. Standard available NIPT tests most often analyze disorders of 3 to 5 selected chromosomes (21, 18, 13, X, and Y).

In this respect, Trisomy test Complete is unique. Thanks to a detailed analysis of fetal DNA, it is able to detect disorders on all 23 pairs chromosomes.

WHAT CAN IT DETECT?

 

99,93%1

Reliability
Trisomies 21, 18 and 13

CHANGES IN THE NUMBER OF ANY OF THE 23 PAIRS OF CHROMOSOMES

Trisomy and monosomy represent the most frequent changes in the number of chromosomes. A trisomy develops when there occurs one extra chromosomeMonosomy, on the other hand, develops when a single chromosome is missing. Besides the most frequent trisomies of chromosomes 21, 18, and 13, TRISOMY test Complete also detects rare changes in the number of any of the chromosomes, including sex chromosomes. These changes may be associated with potential complications during pregnancy. Disorders of this type often remain undetected, since standard NIPT tests or other methods of prenatal screening are typically unable to detect them.

 

≥80%

Reliability
Deletions
Duplications

MISSING OR EXTRA PARTS OF CHROMOSOMES

In cases when there is an extra part of a chromosome present in the cell nucleus, we are looking at a duplication. If, on the other hand, a part of any chromosome is missing we are talking about a case of deletion. The test can detect deletions and duplications which are typically associated with clinically relevant fetal disorders. They cannot be detected by other methods of prenatal screening.

 

Comparison with conventional tests

PLAN

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TRISOMY test Complete

Screening fo all 26 pairs of

chromosomes of the fetus


- Free validation of a positive

finding using the GenomeScreen

prenatal methodology


Support of clinical interpretation

of the relevant sub-chromosomal

aberrations including the newly

detected ones


Results are available

within 5 working days*


- Processing of the sample

is performed by certified

laboratories in Slovakia

STANDARD NIPT testing

- Screening only for the selected

chromosomes


The price does not

include validation of the finding

by a diagnostic method


Support of clinical interpretation

is limited to the selected known


aberrations


- Extended deadline


for delivering results


Processing of the sample

performed abroad

* period can vary based on the country

POSITIVE RESULTS VALIDATED THROUGH A DIAGNOSTIC METHOD

Every positive NIPT finding needs to be validated with a genetic test on a sample of amniotic fluid obtained by amniocentesis and this also applies to TRISOMY test Complete.

TRISOMY test Complete therefore includes a free validation of a positive result by the most detailed available diagnostic method – GenomeScreen prenatal.

 

 

 

 

  • Based on massive parallel low-coverage whole-genome sequencing using the NGS (Next Generation Sequencing) technology.
  • It delivers a very high level of detection ability thanks to analyzing 100% of the genetic material obtained in a specimen of amniotic fluid.
  • It delivers several times higher resolution when compared to the conventional diagnostic method (karyotype).

THE TESTING PROCESS

The testing process is similar to other alternatives of TRISOMY test with the important difference, which is the validation of any positive results with GenomeScreen prenatal, the diagnostic test.

WHERE CAN I GET TESTED?

Mothers-to-be are referred for the test by a gynecologist or a specialist in medical genetics. Click HERE to view a list of physicians offering TRISOMY tests screening.