Niptify foetal chromosomal test
The NIPTIFY screening test for chromosomal diseases is the most modern method for screening for chromosomal diseases. The test detects three main chromosomal disorders where the foetus has an abnormal number of chromosomes with nearly 100% accuracy.
We perform the Niptify test in Meliva clinics in Tallinn and Tartu. Contact the reception of your desired clinic to book an appointment.
The NIPTIFY screening test analyses the five most common foetal chromosomal diseases and determines the sex of the foetus:
- Down syndrome (trisomy 21)
- DiGeorge syndrome (22q11 microdeletion)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Turner syndrome (monosomy X)
The NIPTIFY analysis is safe for the mother and foetus.
Additionally, a comprehensive study of the whole genome of the foetus is carried out, which can identify important abnormalities affecting the foetus’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:
- Williams-Beuren syndrome (7q11)
- 1p36 deletion syndrome
- Angelman and Prader-Willi syndrome (15q)
- Wolf-Hirschhorn syndrome (4p)
- Jacobsen syndrome (11q)
- Cri-du-chat syndrome (5p)
- Langer-Giedion syndrome (8q).
The screening test is recommended in the following cases:
- to confirm the findings of the OSCAR test from the first trimester around the 13th week of pregnancy;
- where screening identified that the foetus may have a heightened risk of a chromosomal disorder. The great accuracy of the NIPTIFY screening test enables to avoid unnecessary invasive procedures (amniocentesis, CVS).
The NIPTIFY test is available from the 10th week 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 foetus 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 tumours during pregnancy.
The consent form of the NIPTIFY test is available HERE and more information on the niptify.ee website.
