Key points to know

  1. The blood sample can be given from 10+ weeks gestation until the end of pregnancy.
  2. NIPTIFY is for all single pregnancies – natural pregnancy, IVF pregnancy, and IVF pregnancy using a donor egg.
  3. Before giving the blood sample for the test, confirm the fetal wellness by ultrasound.
  4. The test requires one tube of venous blood. You can eat and drink as usual before the blood collection.

Exclusions of NIPTIFY

  1. NIPTIFY can not be performed in cases of multiple pregnancies.
  2. NIPTIFY does not suit patients with malignant tumors during pregnancy. 

NIPTIFY partner clinics and laboratories 




NIPTIFY’s precision is significantly higher compared to combined first-trimester screening. A study by Tartu University Hospital Children’s Foundation found that NIPTIFY helps prevent 91% of invasive prenatal test procedures. So far, NIPTIFY has detected 100% of fetuses with a risk of chromosomal disease. In case of a high-risk result, the patient should be counseled by her physician. The trustworthiness of NIPTIFY has led to Estonian Health Insurance Fund to reimburse the test in some cases. NIPTIFY is clinically tested, and the results are published in scientific journals. 

NIPTIFY Focus Plus test’s sensitivity is more than 99.9% for trisomy 21, 18, and 13, monosomy X and DiGeorge microdeletion (22q11). The test’s specificity is higher than 99.9% in trisomy 21 and 18 and DiGeorge microdeletion. In monosomy X and trisomy 13, the specificity is 99.2%. The informed consent form of NIPTIFY can be found HERE.

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

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


Focus Plus technology has been developed specifically for the NIPTIFY test. The aim was to minimize the need for resampling due to low fetal fraction and to enable the detection of microdeletions with high reliability. With Focus Plus technology, cell-free DNA of fetal origin is enriched in the studied blood sample. The analysis shows an average of 3.6 times higher than the standard NIPT test. If the other NIPT tests on the market report the fetal fraction in the 5-10% range, then with the Focus Plus method, it is in the 20-30% range. Because of this principal difference, the NIPTIFY Focus Plus does not report the fetal fraction. More fetal-origin DNA in the analysis means higher sensitivity to detect trisomy and microdeletions. With Focus Plus technology, the probability of a fetal fraction below 4% is significantly lower than 1%.


NIPTIFY is an early and precise DNA-based screening test for detecting fetal chromosomal diseases. NIPTIFY does not replace ultrasound screening, which examines other fetal developmental malformations and evaluates the risk of pre-eclampsia. NIPTIFY also does not replace the maternal serum screening test, which measures the risk of pre-eclampsia. Therefore there is a possibility for a false-negative (chromosomal disease is not detected by NIPT test) or a false-positive result (NIPT shows a high risk, but the fetus is healthy). Possible false results in the NIPTIFY screening test can be caused by different clinical reasons, such as placental mosaicism, maternal mosaicism, maternal chromosomal anomalies, tumors, or other technical reasons not caused by the patient. A low-risk test result can not exclude other fetal developmental abnormalities that are detected with an ultrasound screening. NIPTIFY does not inform about fetal developmental abnormalities such as developmental disorders of the brain or heart, spinal malformations, fetal growth restrictions, etc. NIPTIFY is unable to detect mosaicism, balanced translocations, and rare monogenic diseases. NIPTIFY is not validated for multiple pregnancies or patients with a malignant tumor at the time of pregnancy. NIPTIFY is a screening test; therefore, confirming high-risk test results with an amniotic fluid analysis is recommended. 

The research behind the NIPTIFY test

Scientists from the Competence Centre of Health Technologies, Tartu University, and Leuven University in Belgium collaborate to create the NIPTIFY test. The NIPTIFY team participates continuously in research and developmental activities to ensure the test is up-to-date. The latest research and developmental activities are summarized in the articles below:

Priit Paluoja et al. (2024) BinDel: detecting clinically relevant fetal genomic microdeletions using low-coverage whole-genome sequencing-based NIPT MedRxiv preprint. Direct link.

Priit Paluoja et al. (2021) Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples. PLoS Comput Biol. 2021 Dec 20;17(12):e1009684. doi: 10.1371/journal.pcbi.1009684. Direct link

Olga Zhilina et al. (2019) Creating basis for introducing NIPT in the Estonian public health setting.Prenat Diagn. 2019 Dec;39(13):1262-1268. doi: 10.1002/pd.5578. Epub 2019 Nov 6. Direct link.

Martin Sauk et al. (2018) NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies. Sci Rep. 8(1):5616. doi: 10.1038/s41598-018-23589-8. Direct link.

Baran Bayindir et al. (2015) Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. Eur J Hum Genet 23(10):1286-93. doi: 10.1038/ejhg.2014.282. Direct link.