When is harmony test done
Harmony Test | Non-Invasive Prenatal Test (NIPT)
- Getting Started
- Why Choose Harmony?
- How It Works
- FAQ
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.
Combined first trimester screening (cFTS) can detect 85-90% of pregnancies with Down syndrome (trisomy 21) with a false-positive rate of 5%. 2 Harmony has been shown in clinical testing to identifygreater than 99% of Down syndrome cases and to have afalse-positive rate of less than 0.1%.1,2 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. Results will be with your referring doctor 5-10 business days after receipt of the sample at our labs.
References:
- Stokowski et al. Prenat Diagn. 2015;35:1-4.
- Norton et al. N Engl J Med. 2015 Apr 23; 372(17): 1589-97.
- 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, is validated for use in women ≥ 18years and is suitable for women of any 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).
*Any risk refers to the average risk population (age < 35) and high risk population (age > 35).
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.
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 Harmony has been shown in clinical testing to identifygreater than 99% of Down syndrome cases and to have afalse-positive rate of less than 0.1%.1,2
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).
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:
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Non-invasive prenatal testing (NIPT) | Pregnancy Birth and Baby
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The non-invasive prenatal test, or NIPT, is a new, highly sensitive test that screens for Down syndrome and certain other abnormalities in a baby that is done in the first trimester of pregnancy.
What is the non-invasive prenatal test (NIPT)?
During pregnancy, some of the baby’s DNA passes into the mother’s bloodstream. The non-invasive prenatal test (NIPT) analyses the genetic information contained in this DNA to screen for a number of abnormalities. The test is particularly sensitive to Down syndrome.
NIPTs have been offered in private centres in Australia for about 7 years. They are sometimes referred to by different names, depending on the company that makes them and including Harmony, Generation and Percept. The NIPT involves a simple blood test and can be done from 10 weeks into the pregnancy.
What does it test for?
The NIPT is a safe and highly effective way of screening for conditions that include:
- Down syndrome (also called trisomy 21)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Turner syndrome
Some laboratories also test the gender of the baby and look for problems with the sex chromosomes.
The test detects many chromosomal abnormalities, but not as many as a diagnostic test such as amniocentesis. It cannot screen for genetic disorders such as cystic fibrosis, thalassaemia or sickle cell anaemia.
Why have an NIPT?
The NIPT is highly sensitive and picks up more than 99% of cases of Down syndrome.
But it is still a screening test rather than a diagnostic test. This means it can only tell you whether there is an increased risk of having a baby with an abnormality, rather than give you a definitive answer.
The only way of knowing for sure whether your baby has Down syndrome is to have a diagnostic test such as chorionic villus sampling (CVS) or amniocentesis.
Most women in Australia are offered the combined first trimester screening to screen for Down syndrome. This combines results from a blood test, the mother’s age and an ultrasound scan (which measures the thickness of fluid behind the baby’s neck, called the nuchal translucency) to show whether the baby is at increased risk of Down syndrome. The advantage of this type of screening is that the ultrasound can pick up other problems with the pregnancy and estimate the age of the fetus.
You might choose to have an NIPT test if:
- your combined first trimester screening test shows you are at increased risk of having a baby with Down syndrome
- you did not have the combined first trimester screening test because it was too late or the test wasn't available in your area
- you want to be sure you are at increased risk before you opt for diagnostic tests such as amniocentesis or CVS, which carry a small risk of miscarriage
- you are at increased risk (for example, if you are older or you have had a baby previously with Down syndrome or another chromosomal condition)
NIPT is a good option if you are willing to pay for it — the test is expensive and not covered by Medicare (see 'How much does the NIPT cost' below).
You should also consider genetic counselling before you have an NIPT.
What to expect from your NIPT results
It can take up to 2 weeks to get the result of your NIPT. If the result is ‘negative’, ‘normal’ or ‘low risk’, your baby is unlikely to have any of the chromosomal disorders tested. If the result is ‘positive’, ‘abnormal’ or ‘high risk’, this means your baby is likely to be affected.
If you have an abnormal NIPT result, a diagnostic test such as CVS or amniocentesis can confirm the result. You should discuss your options with your doctor, midwife or genetic counsellor.
How much does the NIPT cost?
The NIPT is not currently available for rebate under Medicare or private health insurance in Australia. The costs depend on the type of test and where it is analysed. If the test is sent overseas, it can cost more. You may also need to pay for an appointment with your doctor to get a referral, as well as an ultrasound.
Although costs have come down in Australia, since some companies are now able to analyse the results locally, you can still expect to pay about $400 to $500 for an NIPT.
Where to get more information
You should speak with a genetic counsellor before getting an NIPT. You can find genetic counselling services near you using the healthdirect Service Finder here. You can read more about genetic counselling here.
If you have any questions about the NIPT or what to do with your results, you can call the Pregnancy Birth and Baby helpline on 1800 882 436 to speak with a maternal child health nurse, 7am to midnight (AET), 7 days a week.
Sources:
NPS Medicinewise (Non-invasive prenatal testing for Down syndrome), NSW Health, Centre for Genetics Education (Fact sheet 27: Non-invasive prenatal testing), The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (DNA-based non-invasive prenatal testing for fetal aneuploidy), Lab Tests Online (NIPT - non-invasive prenatal testing)Learn more here about the development and quality assurance of healthdirect content.
Last reviewed: June 2020
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Related pages
- Checkups, scans and tests during pregnancy
- Screening for Down syndrome
- Prenatal screening and testing
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Harmony test - when to do this prenatal test? Review, reviews
Home » Research » Harmony test - when to do this prenatal test? Review, reviews
The Harmony test is a blood test performed on women in the first trimester of pregnancy - primarily at the 10th and later at the 14th week. The analysis involves evaluation of fetal extracellular DNA from the mother's blood for a disorder known as trisomy.
He et & # 39; associated with diseases such as Patau's syndrome (trisomy 13), Edward's syndrome (trisomy 18) and Down's syndrome (trisomy 21).
Pregnant women can monitor the development of the fetus with a variety of prenatal tests. This includes the non-invasive Harmony test, which detects diseases caused by chromosomal abnormalities. Conditions can be determined using the Harmony test and can pass the test?
As part of the Harmony test, you can study the sex chromosomes X and Y. This means that we will know the sex of the child, as well as identify any abnormalities, that is, Turner syndrome and Klinefelter syndrome. The reliability of the harmony test is estimated to be approximately 99%. One of the main advantages of this study is its low invasiveness and no risk of complications for mother and child.
Performing the Harmony test is a safe solution for women who are at greater risk of developing genetic defects in the fetus, i.e. especially after 35 years.
Pregnancy at this age increases the chance of Down syndrome. The issue of age is also important for the father - diagnostics are recommended for men over 55 years of age. Another indication for the Harmony test is in vitro fertilization or concern about pregnancy ultrasound results. The method should also be used prophylactically to ensure that the child is not at risk of trisomy or other genetic defects.
Some prenatal tests are contraindicated and should not be done for HIV and HPV, and for the presence of a leading placenta. In such cases, the output is a non-invasive test. Keep in mind this Harmony Prenatal Screening is addressed to women between 11 and 14 weeks of pregnancy. It is carried out in case of single and double pregnancy.
Although the Harmony test is not invasive, it should be performed under certain special circumstances. Contraindications apply to women who have undergone organ transplantation and have undergone stem cell therapy. Women who have had a blood transfusion within the six months prior to pregnancy should withdraw from the study.
A woman gives a small sample of blood to a laboratory for genetic analysis as part of the Harmony test. Fragments of childhood DNA (cfDNA) are isolated from the blood and then examined for chromosomal defects. Usually, you have to wait almost two weeks to get the results. When we receive the documentation, we go with it to the attending physician.
If the result of the Harmony test indicates a high risk of chromosomal abnormalities, it is recommended to confirm this diagnosis with invasive tests. They consist of taking a sample not from the mother, but directly from the fetus.
The price of the harmony test ranges from approximately PLN 2200 to PLN 2600.
There are methods other than the Harmony test to assess the risk of developing a congenital disease. Non-invasive methods also include the SANCO test, fetal ultrasound and the PAPP-A comprehensive test. However, the most certainty is provided by invasive tests, which have a minimal risk of miscarriage.
This group of prenatal tests includes chorionic villus sampling, amniocentesis, and cordocentesis.
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Harmony test - Pons Medical Research. Pregnancy Care
During pregnancy, our surrogates do a lot of medical tests, tests and check-ups, which can be tedious and annoying. That's why we want you to be aware of the need for one of the most important tests you can have during this precious period.
We think that it will be useful and important for every parent, as well as for our future parents, to have an idea of what the Harmony test is and why it is carried out.
So let's talk about it.
What is the Harmony test?
The Harmony Test (or Non-Invasive Prenatal Testing) is one of the most important tests to take during pregnancy to make sure your baby is not at risk.
This is a non-invasive prenatal test that can be done after 10 weeks of pregnancy. This is a blood test that analyzes the DNA of the fetus circulating in the mother's blood to predict the risk of certain chromosomal disorders such as Down's syndrome (trisomy 21), Edward's syndrome (trisomy 18), or Patau's syndrome (trisomy 13).
Unfortunately, a chromosomal disorder can occur with any pregnancy. All of these syndromes lead to numerous defects, and they can be fatal to your child. Also, this test determines if the baby is a boy or a girl and does not pose a risk to the fetus. The test has no risk to your child and is almost 100% accurate.
Three trisomy
Down syndrome
Trisomy 21, also known as Down syndrome, is the most common trisomy at the time of birth.
It is associated with moderate to severe intellectual disabilities, and can also lead to diseases of the digestive system, congenital heart defects and other malformations.
Edwards and Patau syndromes
Trisomy 18 , also known as Edwards syndrome and Trisomy 13 , also known as Patau syndrome, are associated with a high rate of miscarriage. These children are born with severe brain damage and often have congenital heart defects as well as other birth defects. Most affected people die before or shortly after birth, and very few survive beyond the first year of life.
Gender chromosome analysis
The sex chromosomes (X and Y) determine whether we are male or female. X and Y chromosome conditions occur when there is a missing, extra, or incomplete copy of one of the sex chromosomes. This test may not be suitable for everyone, so you should consult with your doctor beforehand about the possibility of performing it.
