Short answer:

• Most children are born healthy.

• Prenatal diagnostics is not necessary.

• Some want to do prenatal diagnostics, it is a personal choice.

• Reflect on why you want to do diagnostics and what you will do with potential answers.

• NIPT is today our most accurate prenatal genetic screening method.

• Always discuss with health personell before intiating the process.

For the ones who wish to do prenatal diagnostics there are different methods. Ultrasound and NIPT are the risk free methods. NIPT is a newer method based on genetic analysis and has higher accuracy than ultrasound.

More elaborate answer:

1. When doing prenatal diagnostics in week 10-15 one screens for known conditions. Historically this has been done with ultradound, screening for conditions such as Pataus, Edwards and Downs syndrome. (Trisomy 13, 18, 21).

Sensitivity is a test ability to detect a condition.

NIPT has a sensitivity of 95-99% on the above conditions.

Ultrasound has a sensitivity of 75-85%

CUB ( Combined ultrasound and hormone Blood samples) has a sensitivity of 85-95%

In other words NIPT has a better sensitivity, ability to detect a condition, than ultrasound based methods and is therefore used more and more in prenatal diagnostics.

2. NIPT is an objective DNA analysis, not dependant on the person doing the investigation as opposed to ultrasound.

Ultrasound is a good method but it is dependant on the investigator, the equipment and the patients constitution. In short several factors come in to play.

NIPT does not have these factors and so is more reliable.

3. NIPT is risk free.

A regular venous blood sample from the pregnant mother is all that is needed.

"Early ultrasound" and CUB:

CUB is a spesific prenatal investigation. In Norway only available for women over the age of 38 and is performed at prenatal diagnostic centers at Rikshospitalet, St. Olav etc.

Sensitivity is 85-95% on conditions mentioned above.

"Early Ultrasound" is a term used in Norway related to ultrasound from week 6-18. It is not the same as CUB.

It is a less validated method.

"Early Ultrasound" has a sensitivity of 75-85% on conditions mentioned above.

Why isnt everyone using NIPT?

• Costs: NIPT is expensive. It will become cheaper but genetic analysis is so far quite expensive.

• Politics: Prenatal diagsnostics is controversial in some countries. A more accurate method increases the controversy. It has obvious ethical aspects to it. In some countries it is very regulated, in others the pregant women/couple has the final say. There is no clear answer, just different opinions.

• Routines: It takes time to change an exisiting routine, for instance if a countrys prenatal diagnostic system is based on ultrasound and CUB it takes time to switch to NIPT.

A reasonable way to think:

Do you want to do prenatal screening?

Why do you want to do it?

If you want to do prenatal screening, ultrasound is one method, NIPT another, NIPT has better sensitivity with regard to the conditions above, however it is also more expensive.

If you want to do NIPT and futhermore follow up in the best way possible today do as follows.

1. Do NIPT in week 10.

2. Do ultrasound from week 16, or wait a few more weeks.

3. Make sure you do one ultrasound in week 18-19.

Doing to early ultrasounds is excessive. Do atleast one ultrasound week 18-19. This is when the more sublte abnormalities should be visible, abnormalities such as midline defects, heart valve defects, spinal hernia, diaphragmatic hernia etc.

This is the best approach we have to prenatal screening today.

If you want 1005 answers chorion or amnioticenticis is the only diagnostic test we have.

(Risk of miscarriage is 0,5-1%) These are not considered screening methods.

Remember, nothing is 100% in medicine.

Expecting a baby is an uncertain journey regardless of what you do.

You can do NIPT screening from pregnancy week 10.

Pregnancy week is called gestational week in medical terms. It is based on counting Weeks from the First day of last menstruation.

Before you do NIPT you have to do a simple ultrasound to know the pregnancy is viable, the number of fetuses and approximate dating of your pregnancy.

NIPT is possible in single and twin prengancies but not in triplets or more.

If you do NIPT too early, before week 10, reserach has shown that the amount of fetal DNA is at times is too low for analysis. Then we have to do a new test. Hence a test after week 10 is recommended.

Because we want to know 3 things.

1. That the pregnancy is viable

2. How many fetuses you are carrying.

We can perform NIPT screening on Single or Twin pregnancies however not on triplets or more.

3. We want know that the dating of mensturation is more or less the same as the ultrasound dating ( it can differ a few days to a week).

The ultrasound can be performed from week 6, however a bit closer to week 10 is in general recommended as a lot can happen between week 6 and 10. But if an ultrasound is done in week 6 and all looks okay it is absolutely possible do to NIPT screening.

If you wonder then just discuss with us on your consultation.

The anlysis takes 7 working days.

Most get their answers 8-10 days after taking the blood test.

We help you with calculating pregancy week on our consultation on the phone, so no need to worry.

Once you do an ultrasound, dating is usually no issue.

If you want to know how to calculate based on mentruation, read below.

Identify the First day of your last mentruation.

Count weeks from that date.

For example:

First day of last mensturation was December 19th.

19 Dec is Week 0 + Day 0

26 Dec is Week 1 + Day 0

2 Jan is Week 2 + Day 0

In this example February 27th is Week 10 + 0 Days, and the first day you can do NIPT blood test.

In medicine we count pregnancy Days from 0 to 6. Meaning first day of a Week is Day 0 and last day is Day 6.

We say Week 7 + Day 6 and then Week 8 + Day 0.

An app or calculator like the one below can easily calculate pregancy week for you.

http://www.firstresponse.com/en/Online-Tools/How-Far-Along-Am-I

NIPT Basic cost 5490 kroner.

NIPT Extended cost 7490 kroner.

Depending on where you do blood sampling an extra cost of 250-500 can apply. This because different labs charge different prices for performing the venous sampling.

We help you with finding a suitable place to do sampling.

We do all our analysis in Sweden.

The analysis is perfored at Life Genomics in Gothenburg.

We offer the Harmony NIPT test.

Harmony is the most studied cell free DNA test, with over 148.000 women inrolled in studies and so far 48 publications.

More than 1,4million women have taken the test.

The technology behind Harmony NIPT is owned by Roche, one of the larger pharmaceutical companies in the world.

Roche has its headquarter in Switzerland.

If yo want to read more about Harmony NIPT, read more on Roches pages here:

Harmony test

Pataus, Edwards and Downs syndrome can be analysed when you are pregnant with twins.

Sex chromosome aneploidies and 22q11.2 deletion syndrome cannot be analysed if you are pregnant with twins.

NIPT is so far not validated for Triplet pregnancies.

Yes you can do NIPT as a Norwegian woman, but you may have to do it abroad as it is only offered withing Norway on certain conditions.

Pregnant women in Norway, 38 years or older will get a CUB (ultrasound and hormone blood test) at a prenatal diagnostics center in Norway. ( Rikshospitalet, St. Olav etc. )

IF CUB indicates an anomaly you may be offered to do NIPT.

If you are younger than 38 years, you will have to do NIPT outside of Norway.

Regulation regarding NIPT varies from country to country.

In Norway the regulation is as described above.

In order to decide what is right for you, information is key. Some want to do prenatal screening, others not.

Many patiens have questions, Edda Labs offer a free phone consultation, so you can understand how NIPT works and figure out if it is something you want to do.

NIPT is a personal choice.

The most important thing with NIPT is to have a good understanding of the screening test you are about to take. At Edda Labs it is a priority that our patients are well informed.

In a situation where a result indicates anomaly we will help you to get further diagnostics.

We are well versed in how the systems in Scandinavia work, Sweden-Norway in particular, and make sure our patiens are well taken care of.

Edda Labs is run by Dr. Kristian Wright. Dr. Wright has worked with NIPT for several years, and more importantly he works with complex prenatal diagnostic cases on a regular basis.

His many years of experice working with critically ill babies, children and couples in difficult situations gives us a solid stand if a patient needs advanced follow up.

This is for some patients a reason for choosing our services.

Doing NIPT via Edda Labs usually takes 2 days from making an order. If you want to do NIPT as soon as possible you can always make an order for a kit before having a phone consultation. However remember that we only go forth with screening after you have gone trough our phone consultation.

That being said, here are 2 important points:

1. The important part of NIPT is the preperations and process you go through prior to taking the test. A blood sampling is easy, but you should always reflect on what you would do if you get a result indicating anomaly.

2. Norwegian patients are particulartly focused on week 12. This is related to Norwegian law and a womans right to perform an abortion.

In the media NIPT is sometimes pictured as a test you can take and then decide on whether to continue the pregnancy or not.

This is an incorrect way of describing NIPT.

NIPT and Ultrasound are both screening methods. NIPT is an accurate method, however you still need to confirm results that indicated anomaly.

If you do a test in week 10, and get a result in week 11 and need to confirm this result, you will pass into week 12 regardless of how fast you act. Most likely, no prenatal diagnostic center in Skandinavia will be able to process NIPT and Invasive Diagnstics before week 12.

This is a question we get, however we try to explain this so that you do not need to stress uneccesarily

If you wonder about this ask us on the phone as we are used to these types of ponders and we want you as a patient to fully understand how it all works.

Edda Labs helps you with doing NIPT in a way convenient for you.

It basically means.

Swedish patients do NIPT at their nearest medical center.

EU citizens do NIPT at their nearest medical center.

Norwegian patients usually do NIPT at the nearest Swedish medical center.