1. Down syndrome (trisomy 21)
2. DiGeorge syndrome (22q11 microdeletion)
3. Edwards syndrome (trisomy 18)
4. Patau syndrome (trisomy 13)
5. Turner syndrome (monosomy X)
Additionally, a comprehensive study of the whole genome of the fetus is carried out, which can identify important abnormalities affecting the fetus's health or the mother. They are reported under the name INCIDENTAL FINDINGS. An incidental finding can be a copy number change of an entire chromosome or microdeletion. Seven microdeletions are considered to be clinically significant, which the study can also identify:
1. Williams-Beuren syndrome (7q11)
2. 1p36 deletion syndrome
3. Angelman and Prader-Willi syndrome (15q)
4. Wolf-Hirschhorn syndrome (4p)
5. Jacobsen syndrome (11q)
6. Cri-du-chat syndrome (5p)
7. Langer-Giedion syndrome (8q)
The NIPTIFY test is available from 10+ weeks of pregnancy until the end of the pregnancy. The test is for a singleton pregnancy. The test is also available in case of in vitro fertilization and using the donor egg(s). It is necessary to confirm the heartbeat of the fetus with an ultrasound. The mother's blood sample is required for the analysis. The patient can eat and drink before the procedure. The exclusion criteria of the NIPTIFY test are multiple pregnancies or malignant tumors during pregnancy.
The price of the NIPTIFY is 280 €.
Testing is offered in cooperation with AS Tervisetehnoloogiate Arenduskeskus.