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NIPT test: Harmony

Harmony is a DNA-based blood test that measures the likelihood of Down Syndrome (trisomy 21) in your little one from as early as 10 weeks of pregnancy.

The Harmony test is more accurate than traditional Down Syndrome tests (the double test and nuchal translucency scan) and much less likely to give a false-positive result. That means your doctor would be far less likely to recommend follow-up testing, such as amniocentesis, which is associated with some risk. Harmony also tests for two other enetic conditions, trisomy 13 (Patau Syndrome) and trisomy 18 (Edward Syndrome).

In addition, with Harmony you have the option to evaluate X and Y sex chromosomes.

Are you expecting twins? We recommend the Panorama test instead.

Duration: 45 minutes
Price: DKK 4,300

Harmony provides important knowledge about your little one

The test screens for the following conditions:

Trisomies

  • Downs syndrom (Trisomy 21)
  • Edwards syndrom (Trisomy 18)
  • Pataus syndrom (Trisomy 13)
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Babies with trisomies have an extra copy of either chromosome 21 (Down Syndrome), 18 (Edward Syndrome) or 13 (Patau Syndrome).

If born alive, most affected babies with either trisomy 18 or 13 will pass away within the first few weeks of life.

Below is an estimated occurance (at the time of birth).

Syndrome

Estimated occurance
(at the time of birth)

Trisomy 21
Downs Syndrome
1 in 700
Trisomy 18
Edwards Syndrome
1 in 7.900
Trisomy 13
Pataus Syndrome
1 in 9.500

The above calculation is based on a group of women who did not receive any examinations during pregnancy. If you have had a 12-week and a 20-week scan, the incidence number will be lower.

Sex chromosome aneuploidies (doesn’t apply if you’re pregnant with twins)

  • Turners Syndrom (Monosomy X)
  • Klinefelters Syndrome (XXY)
  • Triple-X (XXX)
  • XYY karyotype
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Sex chromosome abnormalities occur when there is an extra or missing copy of one of the sex chromosomes. One type of sex chromosome abnormality that affects girls is called Turner Syndrome. Girls with Turner Syndrome are missing one X chromosome.

Other common sex chromosome abnormalities are caused by an extra chromosome. Although most affected individuals have an IQ that is in the normal range, some but not all, have learning disabilities or delays.

In general, presentation is less severe than what is seen in trisomies 18, 13, and 21. Children with sex chromosomes abnormalities typically do not have major birth defects. The probability of some sex chromosome abnormalities increase with maternal age.

Gender (optional, no extra cost)

  • Boy / Girl
  • In case of twins: Only girls / minimum 1 boy
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If you would like to know your baby’s gender, as well to establish whether your little one has normal sex chromosomes, Harmony can help you find out at no extra cost.

Please note, this only applies if you are pregnant with one child.

Are you expecting twins or multiples? Choose Panorama instead

Sex chromosomal anomalies can not be detected in twins using the Harmony test, nor can the test directly show the gender of your twins. If both twins are girls, the test will show you, but if there is a boy, the test is unable to determine whether there are two boys, or if it’s one boy and one girl.

This is due to the fact that Harmony does not read fetal DNA from the individual child, but only looks at the total DNA. This also means that if one child has Down Syndrome, the test will not show whether it only applies to one child or if both children have Down Syndrome.

If you are expecting twins and would like accurate knowledge about your children, we recommend you choose the Panorama test instead. This test examines the DNA from each fetus, and can therefore determine genetic conditions for each of your littles ones.

Microdeletion (optional, no extra cost)

  • DiGeorges Syndrome (22q11.2)
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The 22q11.2 Deletion Syndrome, also called DiGeorge Syndrome or Velo-Cardio-Facial Syndrome (VCFS), is caused by a missing piece of chromosome number 22.

About one in every 2,000 babies is born with the 22q11.2 Deletion Syndrome. The majority of children with this condition have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 Deletion Syndrome have mild-to-moderate intellectual disability and speech delays; some will also have low calcium levels, kidney problems, feeding problems and/or seizures.

About one in five children with the 22q11.2 Deletion Syndrome have an autism spectrum disorder; 1 in 4 adults with 22q11.2 Deletion Syndrome have a psychiatric illness, like schizophrenia.

Below is an estimated occurance (at the time of birth).

Syndrome

Estimated occurance
(at the time of birth)

22q11.2
DiGeorges Syndrom
1 in 4.000

The above calculation is based on a group of women who did not receive any examinations during pregnancy. If you have had a 12-week and a 20-week scan, the incidence number will be lower.

What’s included in the test?

  • If you feel the need for guidance before booking your test, or have any questions regarding the process, our lovely staff are more than happy to help you. Please don’t hesitate to call us if you need support of any kind.
  • The test includes a thorough scan of your little one. We check to see if there are any developmental abnormalities (some will be visible on the screen, and vary from week to week).
  • If you already went for a scan and were given ‘soft markers’, we’ll review these and together investigate what they might indicate for the health of your baby.
  • If your results from the test come back positive (with a high likelihood of chromosomal abnormalities), you are offered a placenta biopsy or amniocentesis as further confirmation. We are happy to refer you to a hospital.

Book online

Visit our online booking calendar to find the time and service that best suits your needs.

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Did you know?

The Harmony test is both an accurate and completely safe method of examining the health of your baby. If you’re curious to know how the test compares to the double marker test and nuchal translucency scan, we’ve created this simple overview for you.

Compare tests

Harmony compared to the nuchal translucency scan & the double marker test

How does NIPT stand out from other tests?

NIPT (non-invasive prenatal test)

1. trimester-screening

Amnio-centesis

Screeningtest
 
Non-invasiv
 
Detektionsrate for T21 > 99%

>90/100(>99%)
90/100 (90%)

>90/100 (>99%)
Detektionsrate for T18 > 99%
 
Detektionsrate for T13 > 99%
 
Falsk-positiv rate < 0,1%*

<1/1.600(<0,1%)
1/20 (5%)

<1/1.600 (<0,1%)
Individuel risikoscore
 
Oplysning om køn og kønskromosale aneuploidier
 
Vurdering af mikrodeletion 22q11.2
 

*Falsk positiv betyder, at testen siger, at der er høj risiko for sygdom, uden det er tilfældet. Falsk negative rate også 0,1%. Det vil sige, at prøven siger, at man venter et normalt barn, men dette er ikke tilfældet.

Harmony at a glance

  • The Harmony test analyzes DNA in a blood sample to predict the likelihood of Down Syndrome (trisomy 21), as well as trisomies 18 and 13, during pregnancy. It does not detect deletions, translocations, triploidy, or mosaicism.
  • If you would like to know the gender of your little one, and whether he or she has normal sex chromosomes, the test offers this information at no extra cost. Please note, however, that sex chromosomal abnormalities cannot be detected if you are expecting twins.
Learn more here

Baby’s gender

If you would like to know your baby’s gender, as well to establish whether your little one has normal sex chromosomes, Harmony can help you find out at no extra cost.

Please note, this only applies if you are pregnant with one child.

Are you expecting twins or multiples? Choose Panorama instead

Sex chromosomal anomalies can not be detected in twins using the Harmony test, nor can the test directly show the gender of your twins. If both twins are girls, the test will show you, but if there is a boy, the test is unable to determine whether there are two boys, or if it’s one boy and one girl.

This is due to the fact that Harmony does not read fetal DNA from the individual child, but only looks at the total DNA. This also means that if one child has Down Syndrome, the test will not show whether it only applies to one child or if both children have Down Syndrome.

If you are expecting twins and would like accurate knowledge about your children, we recommend you choose the Panorama test instead. This test examines the DNA from each fetus, and can therefore determine genetic conditions for each of your littles ones.

  • In the case the blood sample needs to be repeated, 1-2 percent will not receive an answer. This is either due to technical problems at the laboratory, or due to a lack of fetal DNA in the blood. Approx. 5 percent will experience a result release time longer than 8 days.

How your body weight influences test accuracy

During pregnancy, your blood contains fragments of your growing baby’s DNA. For the lab to accurately analyze your blood, the DNA from your little one must be at least at 4 percent – otherwise your test will come back blank.

1-2 percent of all tests will have to be rerun due to a lack of fetal DNA in the blood sample. This is more likely to happen if you are overweight.

This table gives you an overview of how your weight relates to the likelihood that your blood sample will contain sufficient fetal DNA for the lab to analyze the first time around. It is based on the study Prenatal Diagnosis (2013, 33, 662–666).

If the Harmony test is not a fit for you due to your weight, we recommend the Evita test instead. Here, your weight has no influence over the laboratory’s ability to analyze your data.

Getting your test results

As soon as we receive your results from the lab in Sweden, we will contact you by phone. We prefer to always call with the test results – both the good and the difficult ones.

In case you would like us to email you instead, please let us know at your appointment. We will send your report in an encrypted email.

Do I still pay if the test comes back blank?

If for some reason your test comes back completely blank (with no results pertaining to the genetic conditions it is supposed to screen for) we do not charge you the full amount, but only DKK 1,000 to cover the consultation and your scan.

If your test comes back with partial results, covering some, but not all of the genetic conditions in question, you pay the full amount.

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A proprietary DNA-based methodology

Harmony Prenatal Test relies on a proprietary targeted DNA-based technology to provide exceptionally accurate results. The test analyzes fragments from specific chromosomes, rather than all chromosomes. This targeted analysis results in higher throughput and accurate trisomy risk assessment.