It is possible to perform the Niptify test in the Gynaecology and Pregnancy Center of Valvekliinik.
The NIPTIFY screening test analyzes the five most common fetal chromosomal disorders and determines the sex of the fetus:
- Down syndrome (trisomy 21)
- DiGeorge syndrome (22q11 microdeletion)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- 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. Twenty one microdeletions are considered to be clinically significant, which the study can also identify:
- Angelman/Prader-Willi Syndrome
- 15q11-q13 Duplication Syndrome
- Williams-Beuren Syndrome
- 7q11.23 Duplication Syndrome
- 1p36 Deletion Syndrome
- Cri-du-chat, or Cat’s Cry Syndrome
- Wolf-Hirschhorn Syndrome
- Jacobsen Syndrome
- Langer-Giedion Syndrome
- Duchenne Muscular Dystrophy
- 17q12 Deletion Syndrome
- Smith-Magenis Syndrome
- Koolen-De Vries Syndrome, KANSL1
- Phelan-McDermid Syndrome
- 15q24 Microdeletion Syndrome
- Neurofibromatosis Type 1
- 3q29 Microdeletion Syndrome
- 2q31.2 Deletion Syndrome
- Miller-Dieker Syndrome
- Pallister-Killian Syndrome
- Prader-Will Syndrome
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 NIPT test does not include an ultrasound examination.
The consent form of the NIPTIFY test is available here and more information on the Niptify.ee website.