Non-Invasive Prenatal Testing (NIPT)

In the blood collection facility at our centre you can undergo one of non-invasive screening tests of high sensitivity (non invasive prenatal testing (NIPT) in cooperation with:
  • neoBona Test by Synlab with confirmed accuracy in clinical studies (also for the purpose of our clinical study aimed at optimisation and clinical effectiveness of first trimester screening);
  • Harmony Test from DIAGNOSTYKA with confirmed accuracy in clinical studies;
  • SANCO Test from GENOMED without confirmed confirmed accuracy in clinical studies.

Tests allow to estimate:
  • the risk of fetal trisomy, such as the Down syndrome – trisomy 21 (sensitivity of 99%, false positive rate of 0.2%); Edwards’ syndrome – trisomy 18 (sensitivity of 99%); Patau syndrome (sensitivity of 79-92%, false positive rate of 1%). Presented data are independent of the distributors (according to NCHPEG);
  • the risk of fetal microdeletion syndomes, e.g. 22q11 microdeletion syndrome, also called DiGeorge syndrome
  • the other chromosomal aberrations risk
  • prenatal baby gender test
NIPT tests are based on analysis of a peripheral blood sample of a pregnant woman using DNA sequencing in respect of a free DNA of fetal origin. neoBona test showed the best efficiency in cases of low fetal DNA fraction to min. 1% (i.e. in high BMI patients). Link to the article on this topic. New data on NIPT.
Attention: NIPT tests cannot replace fetal karyotype assessment from chronic villus sampling, amniocentesis or fetal blood sampling and each suspicious NIPT result should be confirmed by the karyotype examiation!
NIPT limits involve:
  • lower sensitivity in case of a low weight of placenta (occurs in trisomy 18 and trisomy 13), which is characterized by low levels of PAPP-A;
  • situation, when a sample shows so called fetal fraction lower than 6% (which occurs more frequently in patients with an increased BMI)
  The NIPT result is presented in a form of a fraction where a cut-off value equals 1/20. A result revealing an increased risk is an indication for a conclusive test in a form of amniocentesis. The cost of it is covered by GENOMED laboratory or Diagnostyka company. The price of one assay is PLN 2250 – 2350. Waiting time for the result is ab. 9 days. The examination may be carried out starting from 12 weeks of gestation. As far as we are concerned, one false negative NIPT result has been registered in Poland so far. The baby was born with the Down syndrome.
Attention! NIPT examination does not replace an ultrasound examination of the first trimester. An ultrasound examination allows to assess early fetal anatomy and exclude its major anomalies whether or not connected with genetic syndromes. This type of anomalies is highly more common than genetic syndromes and constitutes ab. 66% of all fetal problems. For comparison, the Down syndrome constitutes only 10-15% of them. If you decide on fetal evaluation of the highest standard, the best option would be to perform an ultrasound scan together with the assessment of early fetal anatomy at 12 weeks of gestation, and then to take blood samples for high sensitivity NIPT tests.
  • links to information concerning NIPT testing: