NIPT stands for non-invasive prenatal testing (screening) that examines cell-free fetal DNA (cffDNA) in mother’s blood without need of sampling through the abdominal wall to obtain DNA. It represents a non-invasive alternative to amniocentesis (amniotic fluid sampling) or chorionic villus sampling (CVS). The company Genetika Plzeň in cooperation with Bioptická laboratoř, s.r.o. uses the PANORAMA test that allows detection of the most common chromosomal aberrations of the fetus: the Down syndrome - trisomy of chromosome 21 (supernumerary chromosome 21), Edwards syndrome - trisomy of chromosome 18 (supernumerary chromosome 18) and Patau syndrome - trisomy of chromosome 13 (supernumerary chromosome 13), and aneuploidy of chromosomes X and Y. Chromosomal aberrations are manifested by a specific appearance, intellectual disability and multiple organ defects. Treatment of chromosomal disorders is currently unavailable. The sex of the fetus is determined by detecting the presence of the Y chromosome. The patient will not be informed of the fetus sex until after 12 weeks of fetus gestation.

The test requires about 20ml of blood that is collected by needle puncture after disinfection of the puncture site.

Prenatal non-invasive testing is free from the risk of spontaneous abortion or infection and is highly accurate. The result of the examination will be made available within three weeks after sample receipt.

Requisition form
Informed consent

RISKS OF THE PROCEDURE

Při odběru krve může, zcela ojediněle, dojít v místě vpichu jehly ke vzniku modřiny, nebo zánětu. I když poslední publikované údaje ověřily citlivost tohoto testu u trizomie chromozomu 21 – 99%, trizomie chromozomu 18 – 96,4%, trizomie chromozomu 13 – 99%, monozomie chromozomu X 92,9%, nemůže být zatím považován za diagnostický test, ale pouze za vysoce efektivní screeningový test. Proto v případě pozitivního nálezu postižení plodu je nutno výsledek ověřit invazivním vyšetřením choriových klků (CVS) nebo plodové vody (AMC), zatímco normální výsledek testu nemůže zcela vyloučit postižení plodu. Je to dáno limitací současné technologie.

LIMITATIONS OF PANORAMA TEST

The test cannot be performed in the following instances:

  • in pregnant women who have undergone a bone marrow transplant
  • in pregnant women who have undergone blood transfusion within the last six months
  • if the fetal fraction is less than 2.8%
  • before the eight weeks of gestation
  • in case of gestational obesity if BMI>35

PRICE

NIPT is not covered by public healthcare insurance, the price for a patient is 12.500 CZK (see the price list here).

The fee for NIPT will be refunded a) if the test is not concluded even after repeated (the second) sampling; b) if the result of the second sample is likely to be known after 24 weeks of gestation; or c) in case of a false-positive result.