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The Harmony® prenatal test is a DNA-based blood screening test for the most common chromosomal abnormalities, including Down syndrome (trisomy 21). Harmony is more accurate than traditional tests and can be performed as early as 10 weeks into pregnancy with just a simple blood test 1,2.

While traditional screening can miss as many as 15% of pregnancies with trisomy 21, Harmony’s DNA-based technology accurately identifies more than 99% of cases 2. Clinicians in more than 100 countries have trusted Harmony 3. Harmony can be ordered for all naturally conceived or in vitro fertilisation (IVF) singleton or twin pregnancies, including those with egg donors, although only singleton pregnancies can undergo the sex chromosome aneuploidy and 22q11.2 deletion syndrome analysis.

Australian Clinical Labs is NATA accredited for the Harmony Non-Invasive Prenatal Testing/Screening (NIPT/ NIPS), and all analysis is conducted in Australia – allowing for high accuracy and quick result turnaround times.

References:

  1. Stokowski et al. Prenat Diagn. 2015;35:1-4.
  2. Norton et al. N Engl J Med. 2015 Apr 23; 372(17): 1589-97.
  3. Data on file.
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Getting Started

What is NIPT?

NIPT stands for Non-Invasive Prenatal Testing and unlike traditional prenatal testing which can be invasive, NIPT uses a simple blood test to analyse the DNA of your baby.

Harmony is a non-invasive prenatal test which is analysed from a simple blood sample during pregnancy from week 10 onwards. The basic principle of prenatal screening is to offer a safe, accessible and accurate test to all pregnant women in order to identify those women with an increased likelihood of having a baby with a chromosomal aneuploidy that can cause birth defects.

The Harmony prenatal test was developed to be a more accurate prenatal Down syndrome screening test for women of any age or risk category. When you’re pregnant, your blood contains fragments of your baby’s DNA. Harmony analyses this DNA in a sample of your blood to assess the risk of Down syndrome (trisomy 21) and two other genetic conditions, trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).

 

Why is it important?

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommends that all pregnant women be provided with information regarding screening for Down syndrome 4.

For women of any age or risk category, traditional blood tests can miss as many as 20% of Down syndrome cases in pregnant women 2.

The Harmony prenatal test was developed to be a more accurate prenatal Down syndrome screening test for women of any age or 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.

References:

  1. Stokowski et al. Prenat Diagn. 2015;35:1-4.
  2. Norton et al. N Engl J Med. 2015 Apr 23; 372(17): 1589-97.
  3. Norton et al. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8.
  4. RANZCOG Guideline (C-Obs59) July 2018.
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What does Harmony NIPT screen for?

Harmony is viewed as a reliable screening test and can be seen as the first universal tier antenatal screening test for the most common chromosomal conditions – making up approximately 80% of all chromosomal conditions. Please see table for a summary of the key abnormalities that are screened by Harmony.

The chromosomal conditions that Harmony screens for can be broken down into trisomies, sex chromosome aneuploidies and microdeletions.

Trisomies

Our cells usually have 23 pairs of chromosomes. Trisomy is the word used to describe the presence of an extra chromosome in the cells. Trisomies are named based on which chromosome has the extra copy, so a person with trisomy 21 has an extra copy of chromosome 21. The Harmony test looks for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).

Trisomy 21 (Down syndrome)

Down syndrome is a common chromosomal condition that occurs when there is an extra copy of chromosome 21. It occurs in about 1 in 800 babies and is associated with differences in physical and intellectual development that can be mild to severe 1. While women of any age can have a child with Down syndrome, the likelihood increases with mother’s age 1.

Potential Medical Conditions

  • Hypotonia (floppy muscle tone)
  • Mild to moderate intellectual disability
  • Congenital heart conditions
  • Other developmental problems
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References:

  1. U.S. National Library of Medicine. Genetics Home Reference. Down Syndrome. https://ghr.nlm.nih.gov/condition/down-syndrome. Accessed September 13, 2019.
Trisomy 18 (Edwards syndrome)

Edwards syndrome is a very serious chromosomal condition, that occurs when there is an extra copy of chromosome 18 and causes severe mental and physical disabilities. It occurs in about 1 in 5,000 newborns 1 and unfortunately most babies with Edwards syndrome will miscarry, and of those babies that are born with Edwards syndrome, most will live for just a short time. Although women of any age can have a child with trisomy 18, the likelihood increases with mother’s age.

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References:

  1. U.S. National Library of Medicine. Genetics Home Reference. Trisomy 18. https://ghr.nlm.nih.gov/condition/trisomy-18. Accessed September 13, 2019.
Trisomy 13 (Patau syndrome)

Patau syndrome is a very serious chromosomal condition that occurs when there is an extra copy of chromosome 13, and causes severe intellectual disability and physical defects. It occurs in about 1 in 16,000 newborns 1 and unfortunately most babies with Patau syndrome will miscarry and those babies that are born with Patau syndrome will live for just a short time. While the chance of having a baby with Patau syndrome increases as women age, it can occur in any pregnancy.

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References:

  1. U.S. National Library of Medicine. Genetics Home Reference. Trisomy 13. https://ghr.nlm.nih.gov/condition/trisomy-13. Accessed September 13, 2019.

Sex Chromosome Aneuploidies

Most people have either two X chromosomes or one X and one Y chromosome in their cells. People with a sex chromosome aneuploidy (SCA) have a different number of X and/or Y chromosomes. People with SCAs can have birth defects, infertility and learning differences. Some people with an SCA have such subtle features that the condition isn’t identified until after childhood. Here are the SCAs that Harmony screens for:

Monosomy X (Turner syndrome)
47,XXY (Klinefelter syndrome)
47,XYY (Jacob's syndrome)
47,XXX (Triple X syndrome)
22q11.2 Microdeletion

22q11.2 microdeletion is the absence of a small piece of chromosome 22 1 and is named by the area of the chromosome that is absent. This happens in about 1 in 1,000 pregnancies 2,3.  The Harmony test looks for 22q11.2 microdeletion, the most common genetic cause of heart defects and intellectual disability after Down syndrome 4, and the underlying cause of Di-George and Velocardiofacial syndromes (VCFS).

Unlike trisomies, maternal age is not a risk factor for the microdeletion 2. While it can be inherited from a parent, most babies with 22q11.2 microdeletion are the first in their family to be diagnosed 2. Some people with 22q11.2 microdeletion have very subtle features that are not noticed until after childhood, while others have birth defects that are seen during a prenatal ultrasound 3,4.

Please discuss with your doctor if you wish to include the 22q11.2 deletion option as an extra fee applies.

References:

  1. Schmid et al. Fetal Diagn Ther 2017; Doi:10.1159/000484317.
  2. Grati et al. Prenat Diagn 2015;35:801-809.
  3. Wapner et al. N Engl J Med 012;367:2175-2184.
  4. McDonald-McGinn et al. Gnet Med.2001 Jan-Feb:3(1):23-9.
  5. Bassett et al. JPediatr. 2011 Aug;159(2):332-9.

The Harmony non-invasive prenatal test is based on cell-free DNA analysis and is considered a prenatal screening test, not a diagnostic test. Harmony does not screen for potential chromosomal or genetic conditions other than those expressly identified above. All women should discuss their results with their healthcare provider who can recommend confirmatory, diagnostic testing where appropriate. The Harmony prenatal pest is validated for use in women ≥ 18 years. The Harmony prenatal pest was developed by Ariosa Diagnostics.  The Harmony prenatal pest is performed in Australia.

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