NIPTIFY is a genetic screening test for pregnant women. The test detects common chromosomal diseases, microdeletions and incidental findings. The test is safe for the mother and the fetus (the baby) – it is non-invasive as only the mother’s blood sample is used for testing.
The test analyses the extracellular (free) DNA of the fetus (placenta). Its quantity in the 10th week of pregnancy is sufficient in order to perform the NIPTIFY test. The test is intended for all singleton pregnancies – both for natural pregnancies and pregnancies that have occurred through medical fertilization (IVF, also in the case of presence of a donor egg).
NIPTIFY utilises innovative Focus Plus DNA sequencing technology that enriches the fetal DNA. Consequently, in order to carry out NIPTIFY testing, 3.6 times more fetal DNA is available than within a conventional NIPT test, increasing the resulting accuracy and sensitivity. The necessity for repeated testing is extremely rare.
The NIPTIFY test is recommended in the following cases and scenarios:
- age of the pregnant mother is over 35 years;
- the pregnant has a previous history of pregnancy with trisomies or pregnancy loss;
- contraindications exist for invasive testing;
- the results of biochemical analyzes or USG are inconsistent with the period of pregnancy;
- the pregnancy has occurred as a result of medical fertilisation.
Chromosome abnormalities to be detected by the test:
- Down syndrome(Trisomy of chromosome 21)
- DiGeorge syndrome(22q11 microdeletion)
- Edwards syndrome(Trisomy of chromosome 18)
- Turner syndrome(X monosomy)
- Patau’s syndrome (Trisomy of chromosome 13)
Within the NIPTIFY test, a full genome analysis is being performed, which can detect other trisomies, monosomies, sex chromosome diseases and small DNA losses – microdeletions.
Microdeletions detectable in the examination:
- Williams – Beuren syndrome
- The 1p36 deletion syndrome
- Angelman syndrome and Prader – Willi syndrome
- Wolff – Hirschhorn syndrome
- Cri-du-chat, or the cat’s cry syndrome
- Jacobsen’s syndrome
- Langer – Gideon syndrome
Sex chromosome abnormalities:
- Klinefelter syndrome (XXY)
- Jacobs syndrome (XYY)
- Trisomy X syndrome (XXX)
NIPTIFY is an accurate DNA screening test for fetal chromosomal disorders that can be performed as early as the first trimester.
NIPTIFY is not a substitute for ultrasonographic screening, which checks for other malformations of fetal development and assesses the risk of preeclampsia.
In some cases, a false negative or false positive result is possible.
NIPTIFY is not suitable for multiple fetus pregnancies or patients with malignant tumours during pregnancy. On the other hand, it is recommended to confirm the results of a high-risk test with amniotic fluid analysis.