Innovative - New Focus Plus technology increases test sensitivity and accuracy compared to other NIPTs

   Safe - Non-invasive test using a maternal blood sample for testing

   Reliable - Testing meets strict ISO, CE-IVD and EMQN requirements

   Comprehensive - NIPTIFY includes all relevant chromosomal diseases of the foetus, including microdeletions, in the analysis. The test also determines the sex of the fetus

   Early and fast - The test can be performed as early as the 10th week of pregnancy, results available within
5-10 days


What is NIPT?

NIPT is a non-invasive prenatal test. NIPTIFY is a genetic screening test for pregnant women that detects
the most common chromosomal diseases, microdeletions, and random findings. The test is safe for
mother and baby (non-invasive), a sample of the mother's blood is used for testing.

The test analyzes the extracellular (free) DNA of the fetus (placenta). Cell free DNA amount at 10th week
of pregnancy is enough for a NIPTIFY test. NIPTIFY is intended for all single-fetus pregnancies, both
natural and IVF, also in the case of a donor egg. This NIPT is not suitable for multiple-fetus pregnancies.

Why to choose the "NIPTIFY" NIPT test?


NIPTIFY uses innovative Focus Plus DNA sequencing technology that enriches fetal DNA. As a result,
for NIPTIFY testing, fetal fraction DNA is available 3.6 times more than in a conventional NIPT test,
increasing accuracy and sensitivity. The need for retesting is close to zero, as well as the NIPTIFY test is
suitable for overweight patients.

The sensitivity of the NIPTIFY Focus Plus test is greater than 99.9% for trisomomies of chromosomes 21,
18 and 13, monosomy X, and microdelation of Di-George (22q11). The specificity of the test is higher
than 99.9% for the 21st and 18th trisomies and the Di-George microdeletion. The specificity of
monosomy X and trisomy 13 is 99.2%.

Compared to the combined first trimester screening, NIPTIFY's accuracy is significantly higher. A study
by the Children's Foundation of Tartu University Hospital shows that performing NIPTIFY helps prevent
91% of invasive prenatal examinations. To date, NIPTIFY has detected the risk of chromosomal diseases
of the fetus with 100% accuracy in all cases. NIPTIFY has been clinically tested and the test results are
published in scientific journals.

The NIPTIFY test is a CE-IVD marked in vitro diagnostic medical instrument. All stages of NIPTIFY
testing are carried out in a medical laboratory accredited according to ISO 15189:2012 with certificate
M018. NIPTIFY regularly participates in the international external EMQN quality assessment program
and has achieved maximum results.

*DiGeorge microdelation (22q11) detection sensitivity is calculated based on a limited number of positive
control samples. Based on the scientific literature, the sensitivity of 22q11 microdeletion is 75 – 100%.

Why to choose NIPTIFY for microdeletion detection?

Combined first trimester screening is unable to detect microdeletions. A DNA-based non-invasive
prenatal assay (NIPT) can only assess the risk of microdeletions in the early phase of pregnancy. The
NIPTIFY Focus Plus test may detect DiGeorge's syndrome and seven additional risks of microdeletions.

Di-George syndrome (22q11) is a common disorder (1:1100–1:1500) that causes congenital heart
abnormalities and mental disorder. This microdeletion develops spontaneously (de novo) and is not
related to the age of a mother. Therefore, NIPTIFY test is designed for all families to check the risk of
disease in the baby.


  • The age of the pregnant woman is over 35 years
  • A pregnant woman's history of previous pregnancies with trisomies or termination of pregnancy
  • Irrelevant pregnancy biochemical analysis or USG results
  • Contraindications to invasive testing
  • Pregnancy as a result of IVF

And for every pregnant woman who wants to make sure of the health of the upcoming baby by a safe


The process of the NIPT test

  • Test sample of maternal peripheral blood, which can be taken in our laboratory (BY APPOINTMENT IN
    ADVANCE), or with prior arrangement in the office of your doctor,
  • The samples are sent as soon as possible to the NIPTIFY laboratory in Estonia, where testing is being
    carried out,
  • The results will be available on average within 5-10 working days,
  • The results are received by the person(s) indicated in testing request (doctor and/or patient).

P.S. If you wish to take blood sample for testing in you doctors office, prior coordination is mandatory so that we can send a sampling kit.

Chromosomal abnormalities to be detected during the examination:

1. Down syndrome (trisomy of chromosome 21)
2. Di-George syndrome (22q11 microdeletion)
3. Edwards syndrome (trisomy of chromosome 18)
4. Turner syndrome (X monosomy)
5. Patau syndrome (trisomy of chromosome 13)


 In addition, the NIPTIFY test performs a full genome analysis, which can detect other trisomies,
monosomies, diseases of sex chromosomes and small DNA losses - microdeletions. NIPTIFY classifies
these anomalies as random findings and includes them in the test results.

Microdeletion is the loss of a small fragment of DNA from the fetal genome, which damages genes and
causes severe chromosomal disorders:

MICRODELETIONS to be detected during the examination:

  • Williams-Beuren syndrome
  • 1p36 deletion syndrome
  • Angelman and Prader-Will syndrome
  • Wolfe-Hirschhorn syndrome
  • Cri-du-chat or cat's roar syndrome
  • Jacobsen syndrome
  • Langer-Gidion syndrome




  • Klainfelter syndrome (XXY)
  • Jacobs syndrome XYY
  • Trisomy X syndrome (XXX)

The genome contains full fetal genetic information, which is stored in 23 pairs of chromosomes. Each pair is vital to fetal development and their changes can lead to significant health problems. For example:

  • Trisomy of chromosome 16
  • Trisomy of chromosome 22
  • Trisomy of chromosomes 8 and 9




NIPTIFY is an accurate DNA screening test for fetal chromosomal diseases, which can be performed as
early as the first trimester.
NIPTIFY does not replace ultrasonography screening, which examines other malformations of fetal
development and assesses the risk of preeclampsia. NIPTIFY is not a maternal blood serum screening test
(blood test) that determines the risk of preeclampsia.

In some cases, a false negative (the risk of chromosomal disease is not detected by a NIPT test) or a false
positive result is possible (NIPT shows a high risk, but the fetus is healthy). False results can be caused by
various conditions such as placental mosaicism, maternal mosaicism, maternal chromosomal
abnormalities, tumors or technical reasons.
The result of a low-risk test cannot exclude other abnormalities in fetal development, which are detected
by ultrasonography screening. NIPTIFY does not report fetal developmental anomalies such as brain or
heart developmental disorders, spinal malformations, fetal growth limitations, etc. NIPTIFY is unable to
detect mosaicism, balanced translocations, and rare monogenic diseases. NIPTIFY is not suitable for
multiple pregnancies or patients with malignancy during pregnancy. NIPTIFY is a screening test, so it is
recommended to confirm the results of a high-risk test with an analysis of amniotic fluid.


The laboratory accepts customers in person strictly by appointment. To sign up, write or
call us +371 26267833!