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MaterniT™ GENOME

What makes MaterniT™ GENOME unique?

MaterniT™ GENOME was the first genome-wide Non-Invasive Prenatal Test (NIPT) to become available and to provide karyotype-level information: this means that unlike most other NIPTs, MaterniT™ GENOME analyses every chromosome of your baby to identify extra or missing parts (duplications, deletions) or other “whole chromosome” changes.

Most Non-Invasive Prenatal Tests look at a limited number of specific chromosomes. For example, MaterniT21™ PLUS looks at microdeletions and other abnormalities in a dozen specific chromosomes.

MaterniT™ GENOME screens and detects up to 30% more genetic abnormalities than any other NIPT. It also detects chromosomal aneuploidies missed by other NIPTs, providing earlier awareness and more proactive pregnancy management options.

Can MaterniT™ GENOME detect all abnormalities?

It is important to remember that whilst MaterniT GENOME™ is very accurate, like all NIPTs it remains a screening test, not a diagnostic one. Cell-free DNA (cfDNA) testing does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis (which analyses the baby’s chromosomes). Discordant results (false positives, false negatives) can occur for a variety of reasons and in some rare cases, it is not possible to report on results.

Furthermore, any finding has to be confirmed by other tests, potentially including invasive ones (CVS, amniocentesis).

At The Medical Chambers Kensington, we always advise patients with a positive report to seek confirmation of those findings, as well as further genetic counselling. Pregnancy management decisions should not be based solely on the result of this test, or of any other NIPT.

MaterniT™ GENOME is not meant to replace the 12 week Nuchal scan nor the 20 week scan, which allow close inspection of your baby’s anatomy to give information no blood test can provide. A detailed fetal ultrasound scan, when performed by skilled personnel, can detect the vast majority of major birth defects. However some minor defects may remain undetected and certain types of anomalies can never be detected before birth.

Please note that unlike MaterniT21™, MaterniT™ GENOME is only available for single pregnancies.

Who is MaterniT™ GENOME for?  

You might be advised by your healthcare provider to have the MaterniT GENOME™ test if there are concerns about chromosomal abnormalities in your pregnancy because

you have had an abnormal screening result for this pregnancy;
you have a history of chromosome abnormality in a previous pregnancy;
you have a family history of chromosome abnormality;
an ultrasound scan identifiedd abnormalities.

Or you may choose to have this test because you wish to have as much information as possible about your baby's chromosomes. In all cases, MaterniT™ GENOME allows you to have karyotype-level information without undergoing an invasive procedure and the associated risk of a miscarriage.

What to expect   

Although this test can now be carried out from week 9 of pregnancy, we usually recommend that you wait until week 10 to have your blood drawn. This decreases the risk of the test not being reportable, which can happen if the concentration of cfDNA in the mother’s blood is too low. If this is the case, you will need to come back to have another blood sample taken and start all over again. There is no extra charge for this.

Should your test remain unreportable after the second blood draw, we will reimburse you the full cost of the test. However, MaterniT™ GENOME has a very low rate of non-reportable results.

 Your blood sample is sent on the same day to Integrated Genetics, the laboratory in the USA responsible for processing the test.

Your MaterniT™ GENOME results will usually be received within 7 calendar days from the day of your blood draw.

We will communicate your results to you, usually by secure email, as soon as they have been received and authorised by Dr Nyberg. However should there be anything untoward, Dr Nyberg will first call you to discuss your report.

Why do I need a scan before the blood draw? 

If you wish to have your NIPT performed before week 12, we need to ensure that all is well with your pregnancy at that point in time. This is for your peace of mind and ours! The best way of doing this is to have a short viability scan on the day of your blood draw, with Ciara McKenna, our Ultrasound Practitioner who specializes in pregnancy scanning. You can learn more about Ciara here.

What will my results tell me? 

Like most NIPTs, MaterniT™ GENOME identifies whole chromosome abnormalities like trisomy 21 (Down syndrome), trisomy 18, or trisomy 13. Extra or missing pieces of chromosome material are also analysed (deletions, duplications). Some of these smaller changes are associated with rare conditions such as DiGeorge or Wolf-Hirschhorn syndromes, which often go undiagnosed at birth.

Having information about genetic conditions like this before the birth of your baby can help ensure you and your baby receive the proper and necessary support.

MaterniT™ GENOME will also tell you if you are expecting a boy or a girl, unless you choose not to find out.

Will my results be clear?   

Unlike many other NIPTs, which give you a risk score, MaterniT™ GENOME gives you screening results which are very clearly communicated: they are positive or negative.

A NEGATIVE report means that no chromosome changes have been found.

A POSITIVE report means that the test has identified some chromosome abnormality. Where an abnormal result is found, an image of the chromosome change is included in the report, to illustrate what was discovered. In such a case, you would be contacted by Dr Nyberg to go over the results and your options for further testing. We also have access to genetic counselling and support, via Integrated Genetics.

You can view an example of a negative report by clicking here.

Or to view a sample of a positive report please click here.