The aim of the pre-test counseling is to introduce you to the options, purposes, accuracy, conditions, and possible results of the test. The information provided below will provide you with a better understanding of the purposes of the NIPTIFY test and the methods used to conduct the test.

Taking the Niptify test is a voluntary decision of a pregnant woman. Third parties have no right to pressure the family to undergo or refuse the test. You can also withdraw from the test after giving the blood sample. In this case, the request must be in writing, and the test fee will not be refunded if the blood sample was already taken.

The Niptify test can be performed from 10 weeks of pregnancy until the end of pregnancy. The recommended time for the test is 10-13 weeks of pregnancy, as the results of the screening are known already in early pregnancy. Before the blood sample is taken, the gynaecologist or midwife must confirm the singleton pregnancy, the size of the pregnancy and fetal heartbeat.

The venous blood of a pregnant woman is taken for the test. The future mother’s venous blood contains cell-free DNA of fetal origin, which is the material of the Niptify study. You can drink and eat before the blood sampling.

The test is suitable for all singleton pregnancies, including in vitro fertilisation (IVF) and the use of a donor egg. The test is suitable for women of any weight.

Vanishing twin – this condition occurs when a pregnancy begins as twins but one of the fetuses stops developing. The test can be done in such a case, but if this is known, such information must be added in the comment section of the ordering form the order summary page. Niptify is not clinically validated for vanishing twin conditions and that is indicated in the report of the results. Also, the sex of the fetus is not reported.

In case of multiple pregnancies NIPTIFY test could not be performed

Niptify test cannot be performed if a woman is diagnosed with a malignant tumor during pregnancy. Similar to pregnancy, the tumor releases cell-free DNA into the mother’s bloodstream, which significantly interferes with Niptify analysis and causes false results.

Niptify is a screening test that provides a low- or high-risk assessment of the most common and severe fetal chromosomal diseases. The list of all genetic abnormalities analyzed in the test can be found on the Niptify website (https://www.niptify.com/lv).

Low risk in Niptify results means that no changes in the fetus’s chromosomes were detected from the blood sample, and the probability of chromosomal diseases in the fetus is very low. Routine pregnancy monitoring is following.

High-risk in Niptify results indicates that the fetus has a high risk of chromosomal abnormalities. In case of high risk, a healthcare professional advises the family, together with whom the decisions of additional tests are made. A decision to terminate pregnancy should not be made solely based on Niptify results. Niptify test identifies high risk originating from placental cells. The fetus’s own chromosomal abnormality or final diagnosis is confirmed by amniocentesis. Niptify team can help connect patients with a highly skilled healthcare specialist in Latvia if it is necessary.

Niptify test assesses the risk of Down, Edwards, Turner, Patau, and DiGeorge syndromes (microdeletion) in the fetus. If desired, the sex of the fetus is determined – in this case, it must be marked respectively on the order form.

In the Niptify test, the whole genome of the fetus is analyzed. This means that in addition to the five most common chromosomal diseases, the test can also detect other deviations in the fetus’s chromosomes, i.e. incidental findings. Incidental findings include three possible sex chromosome deviations, other possible trisomies and monosomies (41), and microdeletions and duplications in clinically significant regions (20). Incidental findings and deviations may cause serious diseases. The full list of incidental findings is available on the Niptify website. The analysis of incidental findings is a part of the Niptify test by default.

The Niptify test could also determine some mitochondrial mutations in the fetus and mother. With some mitochondrial DNA mutations (1095T>C, 1494C>T, and 1555A>G), the patient may develop hearing loss and deafness when treated with antibiotics of the aminoglycoside class. Alternative antibiotics can be used if the mutation is present.

The blood test of a pregnant woman contains both, fetal and maternal DNA. Therefore, a deviation found as a result of the Niptify test may also occur in the mother. For example, the mother may be a carrier of a chromosomal abnormality that she is not aware of. In this case, the woman is advised by a medical geneticist, with whom further decisions are made.

The quality indicators of the Niptify test vary slightly depending on the disease. The sensitivity of the test indicates how many fetal chromosomal abnormalities the test can detect. The sensitivity of Niptify for detecting the five main chromosomal abnormalities is 99.9%. The accuracy of determining the fetal sex is 100%. All values are available on the Niptify website and the consent form.

The positive predictive value (PPV) of the Niptify test is the probability that the chromosomal abnormality is confirmed in the fetus after the amniocentesis. For example, in the case of Down syndrome (trisomy 21), the PPV value is 97%, which means that the fetus is highly likely to have Down syndrome. However, in the case of Edwards syndrome (trisomy 18), the PPV value is 64%, which means that in 36% of cases, the fetus is actually healthy. PPV values are very important in the case of high-risk Niptify results when additional tests are planned. PPV values for different chromosomal abnormalities are available on the Niptify website.

• The test can give false results if there is confined placental mosaicism, where only some cells in the placenta have a chromosomal abnormality. In this case, the test might not reflect the actual condition of the baby, and further testing, like amniocentesis, can confirm whether the result is accurate.
• Niptify test can give false results in case of miscarriage of one of the twins in early pregnancy, i.e. vanishing twin. In this case, the chromosomal disease signal of the miscarried twin may be present in the maternal blood sample during the Niptify test and affect the test result. A possible false result can be detected by amniocentesis.

Niptify test analyzes only the risk of chromosomal diseases and does not detect other fetal developmental abnormalities, such as brain or heart developmental disorders, spinal cord malformations, growth retardation, etc. Niptify also does not detect the risk of preeclampsia. Prenatal ultrasound examinations are used to detect fetal developmental abnormalities.

Niptify test cannot detect all genetic diseases and single-gene disorders caused by point mutations. Niptify also cannot detect balanced translocations, where chromosome parts have swapped positions.

• The test results are available on average four to six working days after the blood sample reaches the Niptify laboratory. The maximum time for the results is ten working days.
• Very rarely (less than 1%), it is not possible to analyze the blood sample due to biological or technical reasons. In such cases, the laboratory requests a new blood sample. One reanalysis is free of charge. Reanalysis fails very rarely (0.06%). In such cases, the reason is biological and amniocentesis should be preferred for fetal chromosomal disease determination.