Accuracy
Harmony has been shown in clinical testing to identify greater than 99% of Down syndrome cases and to have a false-positive rate of less than 0.1% 1-2. Combined first trimester screening (cFTS) can detect 85-90% of pregnancies with Down syndrome (trisomy 21) with a false-positive rate of 3-5%.2
The greater accuracy and low false-positive rate of Harmony compared to traditional tests may minimise the chance that further testing would be recommended due to a false-positive result. Follow-up testing might include an invasive procedure, such as amniocentesis.
Clarity early
The Harmony prenatal test requires a single blood draw and is ideally performed between 10+ and 14 weeks' gestation. Results are available 5-10 business days after sample receipt. Other commonly used screening tests for Down syndrome are performed later in pregnancy and may require multiple office visits.
Harmony NIPT can also be offered for Down syndrome screening in the 2nd and 3rd trimester, if you missed the screening during the first trimester.
Suitable for Women of any Risk Category*
The Harmony prenatal test was developed to be a more accurate prenatal Down syndrome screening test, is validated for use in women ≥ 18years and is suitable for women of any risk category*. It is a DNA-based blood test that has been extensively tested in both the under 35 and over 35 age groups, studies have included pregnant women aged 18-48 for Down syndrome 1-3.
*Any risk refers to the average risk population (age < 35) and high risk population (age > 35).
What else can Harmony tell me?
The Harmony prenatal test can also screen for conditions caused by having an extra or missing copy of the X or Y chromosomes, including Turner and Klinefelter syndromes. With the Harmony prenatal test you also have the option to obtain information about the sex of your baby.
Is genetic counselling available?
Genetic counselling will be offered to all women whose test result indicates a pregnancy with high probability of chromosomal abnormality, within 48 business hours. The service may be provided, at your doctor’s discretion, in one of the following ways:
- Your doctor may choose to provide the genetic counselling themselves;
- By the Australian Clinical Labs allied initial genetic counselling service (no additional fee applies);
- By referral from your doctor to a local genetic counselling service.
References:
- Stokowski et al. Prenat Diagn. 2015;35:1-4.
- Norton et al. N Engl J Med. 2015 Apr 23; 372(17): 1589-973.
- Norton et al. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8.
For Frequently Asked Questions about Harmony NIPT, CLICK HERE. If you still require further support after reading this information, call 1300 750 610.