Non-invasive prenatal testing (NIPT)
Non-invasive prenatal testing using foetal DNA
Non-invasive prenatal test (NIPT) is a safe and accurate screening test that assesses the risk of certain chromosomal conditions in the foetus using a sample of the mother's blood. The test analyses small fragments of foetal DNA (cell-free DNA) that circulate in the mother's bloodstream during pregnancy.
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How the test works?
During pregnancy, foetal DNA enters the mother’s blood, which carries the genetic information of the foetus. NIPT analyses this DNA to assess the risk of specific chromosomal conditions. The test can also determine the baby’s sex.
NIPT is a high-sensitivity study that can detect up to 99% of the following chromosomal abnormalities:
- Down syndrome (trisomy 21)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Turner syndrome (monosomy X)
Although NIPT is highly sensitive, it is a screening test, not a diagnostic test. If the result indicates a high risk of a chromosomal condition, this must be confirmed with diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis.
Our women's clinic uses the Niptify™ test (Tervisetehnoloogiate Arenduskeskus AS) as a non-invasive prenatal test.
NIPTIFY™ Package
The NIPTIFY test analyses the five most common chromosomal conditions and determines foetal sex:
- Down syndrome (trisomy 21)
- DiGeorge syndrome (22q11 microdeletion)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Turner syndrome (monosomy X)
The test also includes genome-wide screening, which may identify significant chromosomal abnormalities. These are reported as incidental findings and may include whole chromosome changes or clinically significant microdeletions.
Seven microdeletions considered clinically relevant include:
- Williams-Beuren syndrome (7q11)
- 1p36 deletion syndrome
- Angelman and Prader-Willi Syndrome (15q)
- Wolf-Hirschhorn syndrome (4p)
- Jacobsen syndrome (11q)
- Cri-du-chat or cat-father syndrome (5p)
- Langer-Giedion syndrome (8q)
When can NIPT be performed?
NIPT can be carried out from 10+ weeks of pregnancy onwards. The test is suitable for singleton pregnancies and is also effective following IVF treatment, including donor egg pregnancies. Foetal heartbeat must be confirmed by ultrasound before testing.
The test cannot be done in case of multiple pregnancies or if the patient is diagnosed with a malignant tumour during pregnancy.
A maternal blood sample is taken, and you may eat and drink normally beforehand.
The NIPTIFY study consent form is HERE. More information can be found niptify.comwebsite.
There are two ways to take the NIPT test:
1. As part of the first trimester screening after the OSCAR test. If the OSCAR test shows borderline or increased risk, the Health Insurance Fund covers the cost of NIPT.
2. As a self-funded text. The test can be performed at the patient’s request (see price list for details).
Appointments
If your pregnancy is monitored at West Tallinn Central Hospital, your midwife or doctor will arrange the necessary prenatal diagnostic tests.
If your pregnancy is monitored elsewhere, please inform your healthcare provider that you wish to have first trimester screening and/or NIPT performed at West Tallinn Central Hospital.
For information about appointments, please call 666 5307 or email rasedus.bron@keskhaigla.ee.
Contact and location details
The Women's Health Clinic is located at Sõle 23, Tallinn.
Phone: 666 5307
