Common questions

For expecting parents

Prenatal testing can raise many questions, here we answer some of them.

All questions about prenatal diagnosis, NIPT and chromosomal conditions

Why is analysis of additional trisomy and microdeletion syndrome not offered?

The advantage of Harmony NIPT is to avoid unnecessary invasive testing.

Although the NIPT technologies are very good, a small number of results always appear, which falsely indicates a high probability of abnormality. These false alarms become more frequent the more abnormalities that are analyzed, and if the deviation in question also are extremely rare, which applies to almost all microdeletions (1/10 000 – 1/100 000), the result is that the analysis does more harm than good by causing an increase in the number of unnecessary amnicentesis / CVB.

For example, it requires about 300-400 amniocentesis to identify one true case of a mikrodeletion present in 1 out of 50,000 births.

We don’t think this is reasonable and therefore does not offer a any panel with a wide range of extremely rare abnormalities in Harmony NIPT.

Where can I get more information regarding 22q11

There are several synonymes for the syndrome and information can also be found for DiGeorge syndrome and Velocardiofacial syndrome, VCFS.

Socialstyrelsen Ovanliga diagnoser, 22q-deletionssyndromet.

Sällsynta diagnoser, CATCH 22/22q11-deletionssyndrom.

Patient organisation, 22q.

When is Harmony not recommended?

Harmony is not possible when:

  • 3 or more fetuses
  • wanishing twin, the pregnancy started as twins but one twin has demised
  • the mother has recieved a donated organ or donated stem cells
  • the mother has a metastatic malignant disease
  • either of the parents has a trisomy syndrome or 22q11.2 micro deletion syndrome

I’m expecting triplets. Can I get the Harmony test?

Not currently. Only singel and twin pregnancies is evaluated.

Can the Harmony test analyse further aberrations?

Harmony is not intended to detect mosaicism, partial chromosome aneuploidy, translocations or maternal aneuploidy. Harmony does not detect neural tube defects.

How accurate is the Harmony Prenatal Test?

Using a DNA-based technology, the Harmony Prenatal Test has been shown to identify greater than 99% of trisomy 21 (Down syndrome) cases.1 By comparison, traditional blood tests can miss as many as 15% of cases in pregnant women.2

Accuracy for trisomy 13 and 18 is similar but these conditions are rarer and positive predictive values are therefore lower.

Harmony is also much less likely than traditional tests to give you a false-positive result, meaning there is much less chance your doctor would recommend follow-up invasive testing, such as amniocentesis.

Harmony Prenatal Test is a screening test. Results should be confirmed with diagnostic testing.

How does the Harmony Prenatal Test work?

When you are pregnant, your blood contains fragments of your developing baby’s DNA. Harmony Prenatal Test is a new type of test that analyzes DNA in a sample of your blood to predict the probability of trisomy 21 (Down syndrome) and other genetic conditions called trisomy 18 and trisomy 13.

How is the Harmony Prenatal Test different from other screenings for chromosomal syndromes (FTS = KUB)?

Harmony delivers clear answers as early as the first trimester with a single blood draw. Other commonly used tests (FTS = KUB) are performed later in pregnancy and may require multiple office visits. Traditional 1st trimester serum screening tests are associated with a false-positive rate as high as 5%.2
Harmony uses a unique method of targeted DNA analysis that, combined with extensive quality controls, achieves over 99% accuracy and a false-positive rate less than 0.1%.1

Can the Harmony Prenatal Test also evaluate fetal sex, and the X and Y sex chromosomes?

Yes, Harmony Prenatal Test includes the option to evaluate fetal sex and the number of X and Y sex chromosomes, if you ask your doctor to request this additional analysis.

Should I take the Harmony Prenatal Test if I am under 35?

The risk of Down syndrome in a pregnancy increases with maternal age, however, most cases occur in women who are under age 35.4 The Harmony Prenatal Test has been extensively validated in women both over and under 35.1

When can I take the Harmony Prenatal Test?

You can get the Harmony Prenatal Test with a simple blood draw as early as 10 weeks into your pregnancy, or any time later in pregnancy. You should have made an ultrasound scan first to know if it is one or two babies.

How long does the Harmony Prenatal Test take?

Harmony is a simple blood test but you will also get information from your healthcare provider. Contact your healthcare provider for an appointment. The results are usually available within 10 working days.

How much does Harmony Prenatal Test cost?

Harmony is not yet included in public healthcare in Sweden. Ask your healthcare provider about the cost (including ultrasound scan and councelling).

Where can I find out more about trisomy 21 (Down syndrome), trisomy 18 and trisomy 13?

In the section about chromosomal conditions you will find information about the syndromes and links to further information.

I’m expecting twins. Can I get the Harmony Prenatal Test?

Yes. Harmony can be used in twin pregnancies. Harmony measures fetal fraction from both twins and only report results when there is enough fetal fraction from the twin with lowest fetal fraction to give a reliable result.

If you want to know the sex of the twins the results are either “2 girls” or “at least one boy”.

I’m expecting through IVF. Can I get the Harmony Prenatal Test?

Yes. In most cases, the Harmony Prenatal Test can be used in pregnancies conceived through in vitro fertilization (IVF).

Harmony can be used for pregnancies with donated eggs, both single and twin pregnancies.

I have another question that is not answered here. Who do I ask?

For questions that relate to your specific case and personal concerns, it’s best to talk to your healthcare provider.