NIPT test NIPTIFY
- Kinship DNA tests
- Medical DNA tests
- Wellness DNA tests
- Veterinary DNA tests
- Tests of infectious agents
- Next-generation sequencing
- Information for medical practitioners
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
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.
NIPTIFY test RECOMMENDED:
- 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
- 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
ANOMALIES OF THE SEX CHROMOSOMES:
- 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
The risk that the fetus will have Down, Edwards, Patau, Turner or Di-George syndrome is very low.
Anomalies of other chromosomes were also not detected. Since NIPTIFY is not a diagnostic test, false negatives or false positives are still possible. The NIPTIFY test cannot detect chromosomal mosaicism or
rare monogenic diseases. In addition, a low risk score for chromosomal diseases does not apply to other fetal developmental abnormalities detected by ultrasonography (for example, brain or heart abnormalities,
spinal malformations or developmental disorders).
The risk that the fetus will have Down, Edwards, Patav, Turner or Di-George syndromes or other random deposits is high. Random findings can be any other chromosomal abnormalities, including sex
chromosomes, as well as microdelations or an incorrect number of any other chromosomes. Since NIPTIFY is a screening test, pregnancy should not be terminated based only on this result. To confirm the
high risk of chromosomal disease, an invasive diagnostic test such as amniocentesis should be considered.
In the event of a high-risk accidental finding, the supervising doctor or geneticist will decide on the need for additional tests.
Sex of the fetus
NIPTIFY determines the sex of the chromosomes of the fetus. If a Y-chromosome is detected in the
mother's blood, the baby is a boy. If there is no Y-chromosome - girl. In rare cases (<0.2%) the sex of the chromosomes of the fetus cannot be determined. The reason for such cases may be the disappearing twin.
It is impossible to determine the risk of chromosomal diseases. Such a result does not mean increased risk. Various external conditions can affect the quality of the blood sample. In the event of an uninformative result, the NIPTIFY laboratory provides a retest. One retest is free of charge.
In rare cases, NIPTIFY Focus Plus cannot determine the risk of chromosomal disease. This happens in less than 0.1% of all repeat examinations. The reason for such cases is a high standard deviation of the results or a low fraction of extracellular (free) DNA of the fetus (placenta). Low fetal fraction does not indicate a higher risk of chromosomal diseases.
A low fraction of fetal DNA can be affected by a high maternal body mass index (BMI above 30), premature testing, asymptomatic viral infections, or other biological and technical factors.
With the development of pregnancy, the extracellular (free) DNA fraction of the fetus (placenta) increases and does not depend on the volume of the blood sample. In the case of a low fraction of fetal DNA, we recommend that you give another blood sample (retest), which is free of charge for the patient.
Incidental findings can significantly affect the health of the mother or fetus, as well as the function of the placenta until the end of pregnancy. Each random finding must be assessed individually. In rare cases, NIPTIFY may detect maternal chromosomal abnormalities that may indicate a tumor.
There is a high probability that the detected random finding is located only in the placenta and the fetus is healthy. In such cases, it affects only the course of pregnancy. For example, placental trisomy 16 may be associated with impaired placental development, which can cause limitations on fetal growth. Such a pregnancy should be carefully monitored to minimize the risk to the health of the mother and fetus. If trisomy 16 is confirmed by a diagnostic test (amniocentesis) in the fetus, the pregnancy is likely to end in spontaneous abortion. If an incidental finding is detected in clinically relevant areas of microdelation, it is recommended to confirm the result with DNA diagnostic analysis (amniocentesis).
Incidental findings include seven clinically relevant microdeletions, sex chromosome aneuploidies, trisomy in other autosomes (except 13, 18 and 21), monosomies in all autosomes, and partial changes in the number of DNA copies (more than 30 million pairs of DNA bases) in chromosomes 13, 18, 21 and X.
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 firstname.lastname@example.org or
call us +371 26267833!