Innovative – New Focus Plus technology increases the sensitivity and accuracy of the test compared to other NIPT tests.

Safe – Non-invasive test that requires only a sample of the mother’s blood.

Reliable – Testing meets strict ISO, CE-IVD and EMQN standards

Comprehensive – NIPTIFY tests all major fetal chromosomal abnormalities, including microdeletions, and also determines the sex of the fetus.

Early and fast – The test can be performed as early as the 10th week of pregnancy and the results will be ready in 5-10 days.

 

What is NIPT? NIPT is a non-invasive prenatal test. NIPTIFY This is a genetic screening test for pregnant women that detects the most common fetal chromosomal abnormalities, microdeletions, and other incidental findings. The test is safe for mother and child because it is non-invasive - the test uses a sample of the mother's venous blood, in which extracellular free DNA (cfDNA) of the fetus is detected and analyzed. Free fetal DNA begins to appear in the mother's blood as early as the 7th week of pregnancy, but by the 10th week of pregnancy the amount is sufficient for the NIPTIFY test. NIPTIFY is intended for all singleton pregnancies – both natural and IVF, including in the case of a donor egg.

 

Why choose the "NIPTIFY" NIPT test?

NIPTIFY uses innovative Focus Plus DNA sequencing technology that amplifies and enriches fetal DNA. As a result, 3.6 times more free fetal DNA is available for the NIPTIFY test than for the conventional NIPTIFY test, significantly increasing the accuracy and sensitivity of the NIPTIFY test. The probability of repeating the test due to insufficient test material is close to zero. The NIPTIFY test is also suitable for overweight patients.

The sensitivity of the NIPTIFY Focus Plus test exceeds 99.9% for Trisomy 21, 18 and 13, monosomy X and DiGeorge microdeletion (22q11). The specificity of the test is higher than 99.9% for Trisomy 21 and 18 and DiGeorge microdeletion. When testing for monosomy X and trisomy 13, the specificity of the test is 99.2%.

The accuracy of NIPTIFY is significantly higher compared with combined first trimester screening. A study by the Tartu University Hospital Children's Foundation has proven that performing the NIPTIFY test on pregnant women helps prevent up to 91% of invasive prenatal examinations. Until now, the NIPTIFY test has detected the risk of fetal chromosomal abnormalities with 100% accuracy in all cases. The NIPTIFY test has been clinically tested and test results have been published in the scientific journals.

NIPTIFY is a CE-IVD marked in vitro diagnostic device. All stages of the NIPTIFY test are performed in an ISO 15189:2012 accredited medical laboratory with an M018 certificate. NIPTIFY regularly participates in the international external quality assessment program EMQN and has achieved the best results.

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

 

Why choose NIPTIFY for microdeletion detection?

Combined first trimester screening is unable to determine the risk of microdeletions. A DNA-based non-invasive prenatal assay (NIPT) can detect the risk of microdeletions only in the early stages of pregnancy. The NIPTIFY Focus Plus test can detect not only DiGeorge syndrome, but also seven additional microdeletion risks.

DiGeorge syndrome (22q11) is a relatively common disorder in the population (1:1100–1:1500) that causes congenital heart defects and mental retardation. This microdeletion is not associated with maternal age but develops spontaneously (de novo), so NIPTIFY testing is intended for all families to check the child's risk of the disease.

 

Who is recommended to take the NIPTIFY test?

• Pregnant women over 35 years of age;

• Pregnant women with prior history of pregnancies with trisomy or miscarriage.

• Pregnant women with altered results of biochemical pregnancy tests or ultrasound;

• Pregnant women with contraindications to invasive diagnostics;

• Pregnancy as a result of IVF;

• For every pregnant woman who wants to be confident in the health of her unborn baby;

 

The process of the NIPT test.

A sample of maternal venous blood is necessary for the test, which can be taken in the laboratory of our clinic, with prior arrangement with your doctor.

Then the samples are sent to the NIPTIFY laboratory in Estonia, where testing is carried out.

The results will be ready within 5-10 working days and are received by the person(s) indicated in testing request (doctor and/or patient). Test results are written in English.

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Chromosomal abnormalities to be checked during the examination:

• Down syndrome (Trisomy 21)

• Di-George syndrome (22q11 microdeletion)

• Edwards syndrome (Trisomy 18)

• Turner syndrome (X monosomy)

• Patau syndrome (Trisomy 13)

In addition, the NIPTIFY test also performs a full genome analysis, which can help identify other trisomies, monosomies, sex chromosome pathologies and small losses of DNA fragments - microdeletions. NIPTIFY classifies these abnormalities as “incidental findings” and INCLUDES these findings in the TEST RESULTS.

Microdeletion is the loss of a small fragment of DNA from the fetal genome, that changes the structure of human chromosomes and can cause severe chromosomal pathologies:

Microdeletions to be detected during the examination:

• Williams-Beuren syndrome

• 1p36 deletion syndrome

• Angelman and Prader-Willi syndrome

• Wolfe-Hirschhorn syndrome

• Cri-du-chat (cat's cry) syndrome

• Jacobsen syndrome

• Langer-Giedion syndrome

 

Anomalies of the sex chromosomes:

• Klinefelter 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 16

• Trisomy 22

• Trisomy 8 and 9

 

Possible test results

Low risk

The risk of the fetus developing Down, Edwards, Patau, Turner or DiGeorge syndrome is very low, and no other chromosomal abnormalities have been identified. 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. It should be noted that low risk score for chromosomal disorders does not apply to other fetal developmental abnormalities detected on fetal ultrasound (eg, brain or heart abnormalities, spinal malformations, or developmental disorders).

 

High risk

The risk of the fetus developing Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, DiGeorge syndrome, or other incidental findings is high. Incidental findings include any other chromosomal abnormalities, including sex chromosome changes, as well as microdeletions or an incorrect number of any other chromosomes. Since NIPTIFY is a screening test, pregnancy should not be terminated based on this result alone. To confirm the high risk of chromosomal disease, the attending physician or geneticist will decide on the need for additional studies, for example, amniocentesis.

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Sex of the fetus

NIPTIFY determines the chromosomal sex of the fetus. If a Y chromosome is detected in the mother's blood, then the expected child is a boy; if there is no Y chromosome, the expected child is a girl. In rare cases (<0.2%), the chromosomal sex of the fetus cannot be determined. The reason for such cases may be the “disappearing twin” phenomenon.

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Uninformative result

This test result means that the risk of chromosomal diseases cannot be determined, but it does not mean that the risk is high or low. Various external conditions can affect the quality of the blood sample, which in turn affects the progress and results of the test. In case of an uninformative result, the NIPTIFY laboratory conducts a repeat analysis - one repeat test is free. In rare cases, NIPTIFY Focus Plus cannot determine the risk of chromosomal disorders. This occurs in less than 0.1% of all repeat tests. The reason for such cases is considered to be a high standard deviation of the results or a low proportion of free fetal DNA. A low fetal free DNA fraction may be caused by a high maternal body mass index (BMI greater than 30), testing too early (before the 10th week of pregnancy), asymptomatic viral infections, or other biological and technical factors. As pregnancy progresses, the proportion of free fetal DNA increases, so in the case of a low fetal DNA fraction, we recommend a repeat test, which is free of charge for the patient.

 

Incidental finding

Incidental findings can have serious consequences for the health of the mother and fetus, as well as the function of the placenta for the remainder of pregnancy. Each incidental finding must be assessed individually. In rare cases, NIPTIFY may detect chromosomal abnormalities in the mother that may indicate a tumor There is a high probability that the detected incidental finding is located only in the placental tissue and the fetus is healthy - in such cases it only affects the course of pregnancy. For example, placental Trisomy 16 may be associated with impaired placental development, which can lead to fetal growth restriction. Such pregnancies should be closely monitored to minimize risks to maternal and fetal health. If trisomy 16 is confirmed by a diagnostic test (such as amniocentesis) in the fetus, the pregnancy will most likely end in miscarriage. If an incidental finding is detected in clinically relevant areas of microdeletion, it is recommended to confirm the result by performing an invasive diagnostic method - amniocentesis. Incidental findings include seven clinically significant microdeletions, sex chromosome aneuploidies, trisomies on other autosomes (except chromosomes 13, 18, and 21), monosomies on all autosomes, and partial DNA copy number changes (more than 30 million DNA base pairs) on 13, 18, 21 and X chromosomes.

 

Limitations

NIPTIFY is an accurate DNA screening test for fetal chromosomal diseases that can be performed as early as the first trimester of pregnancy. NIPTIFY does not replace ultrasound screening, which can detect other fetal malformations and assess the risk of developing preeclampsia. NIPTIFY is also not a maternal blood screening test for the risk of preeclampsia.

In some cases, a false negative (NIPT test does not detect the risk of chromosomal diseases) or a false positive result (NIPT shows a high risk, but the fetus is healthy) is possible. False results can be caused by various factors such as placental mosaicism, maternal mosaicism, maternal chromosomal abnormalities, tumors or technical reasons. A low-risk test result does not exclude other fetal abnormalities detected by ultrasound screening. NIPTIFY does not detect fetal anomalies such as structural abnormalities of the brain or heart, spinal malformations, fetal growth restriction, etc. NIPTIFY cannot 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 high-risk test results are recommended to be confirmed by amniotic fluid analysis.