WHAT IS
THE TRISOMY TEST?

Laboratórium

TRISOMY test is a highly precise, non-invasive screening test based on a sample of maternal blood that can exclude foetal chromosome aberrations and determine the sex of the foetus in early stages of pregnancy.

What does TRISOMY test detect?

Differences TRISOMY tests

Trisomies

Down syndrome (trizómia 21)

Edwards syndrome (trizómia 18)

Patau syndrome (trizómia 13)

Sex

Foetal sex determination

Sex chromosome abnormalities

Turner syndrome 

(monozómia X)

Klinefelter syndrome (XXY)

XYY syndrome (XYY)

XXX syndrome (XXX)

Microdeletion syndromes

DiGeorge syndrome (22q11)

Prader-Willi syndrome and Angelman syndrome (15q11)

Cri-du-chat syndrome (5p15)

1p36 deletion syndrome

Wolf-Hirschhorn syndrome (4p16.3)



probable


X

X

X

X


X

X

X

X

X



chromosome-based







X

X

X

X

X



chromosome-based












 

 


This procedure is commonly called “Non-Invasive Prenatal Testing” (NIPT), which reflects the method of obtaining blood samples used in the process. The test is based on a sample of maternal blood obtained as early as in the 11th week of pregnancy – since it is non-invasive, it poses no risk to the foetus whatsoever.

 

Since TRISOMY test, TRISOMY test XY and TRISOMY test + are provided by the Medirex laboratories in Bratislava, test results are usually available within 5 working days. If a blood sample cannot be processed by the laboratory in accordance with the principles of good laboratory practice (e.g. in the event of a low foetal DNA concentration in the sample), or if the analytical results do not provide an answer to the diagnostic question, the laboratory offers a repeat examination based on the same blood sample free of charge. Under the circumstances, the period for the delivery of test results will change from 5 to 8 days (this generally applies to about 10% of all samples).

 

TRISOMY test, TRISOMY test XY and TRISOMY test + are not covered by public health insurance. The laboratory test can be paid for by the pregnant woman in cash at her doctor’s office (direct payment to the health care provider who referred the patient for TRISOMY test in the first place), or using a bank transfer or a credit card through the www.medirexplatby.sk payment portal (direct payment to the Medirex a.s. laboratories’ account).