NIPT

What is the Harmony test?

It has been discovered that a blood sample taken from the mother at any time from early pregnancy can be analysed for cell free fetal DNA, which is essentially a marker in the mother’s blood of the DNA of the baby. The result of the simple blood test (Harmony), taken at 10+0 weeks or later has a sensitivity to identify greater than 99% of trisomy 21 (Down syndrome) cases. By comparison, traditional blood tests can miss as many as 15% of cases in pregnant women. Accuracy for trisomy 13 and 18 is similar but these conditions are rarer and positive predictive values are therefore lower.

It is important that an ultrasound scan is performed just before the blood test to confirm the pregnancy, and to check that the mother is not carrying twins or more. The Harmony test can be used to check twins with a sensitivity for the detection of Downs syndrome greater than 95% and can now be used if the pregnancy is conceived with donated egg.

The Ultrasound is included in the price.

NIPT

NIPT 5500kr (*200kr weekend surcharge)

Includes evaluating the risk of trisomy 21 (Down syndrome), trisomy 18, trisomy 13 and, sex chromosome aneuploidies (optional), fetal gender(optional).

NIPT Panel

NIPT Panel 6600kr (*200kr weekend surcharge)

Includes evaluating the risk of trisomy 21 (Down syndrome), trisomy 18, trisomy 13, sex chromosome aneuploidies (optional), fetal gender(optional) and the likelihood for the micro deletion 22q11.2.

Procedure

  • The mother has to read and sign a consent form and sign a form for data release.
  • An ultrasound scan is always done first.
  • This is a simple blood test from the vein in the woman’s arm like any other blood test. There is no risk from having the test.
  • Two tubes need to be filled.
  • The tubes are immediately packaged and sent the same day to Life Genomics Laboratory in Gothenburg for improving turn around time.

PLEASE NOTE! Blood tests must take place with us at Kommendörsgatan 5. 

How long does it take to get a result?

The result is available within 5-10 working days, the normal turnaround time is 5 working days. There is a 2% chance that there will be no result obtained. There are a variety of reasons for this. This is not a positive or negative test: it is an unsuccessful test. An offer of a repeat test is made free of charge. This is usually successful. In rare circumstances the result can take longer than 7 days. We understand it can be a stressful time waiting for results and we will endeavour to communicate any delays to our patients as soon as we receive information from the laboratory.