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UNDERSTAND THE MAÏA DNA SCREENING TEST
2021/11/16

UNDERSTAND THE MAÏA DNA SCREENING TEST

The MAÏA team is constantly looking forward for new products, new collaborations, new technological advances as well as new services. Today, we are proud to announce the arrival of fetal DNA screening, which is made possible through the partnership with one of the best globally recognized genomic analysis laboratories.

 

In order to better guide you on understanding the fetal DNA test, our team has gathered all the information on this subject. Good reading!

 

Understanding the DNA screening test:

Chromosomes are the structures inside our body’s cells that are made of DNA and carry our genetic information. Most people are born with 23 pairs of chromosomes totalling 46 chromosomes. Some common chromosomal conditions are caused by having an extra or missing chromosome. It is now possible to tell if your baby is at risk of having any aneuploidy by taking a prenatal screening test.

NIPT (Non-invasive prenatal testing) is a simple blood test that looks at cfDNA (cell-free DNA)  from the pregnant woman’s blood.  The results from NIPT are much more accurate than other available screening tests. It is also available at any point in pregnancy after 10 weeks gestation.

 

How does it work ?

This test is taken in special blood tubes which isolate the plasma and preserve maternal and fetal DNA. It is then sent to the laboratory for analysis. We receive your result between 3 to 5 working days and we will contact you by phone as soon as it is received. Know that no matter if your result is positive or negative, our nurse will call you.

 

When this test can be done ?

NIPT can be performed as soon as 10th week of pregnancy until birth, providing the most extensive screening period of prenatal screening tests. It is possible to found out about some chromosomal conditions before your baby is born and the result of testing may help you and your family  prepared and discuss for pregnancy management with your healthcare provider. Note that a dating ultrasound is necessary if the test is done before the 12th week of pregnancy to ensure gestational age.

 

NIPT is meant to give you more information about wether certain chromosomal conditions are present. 

A screening test can tell you if your baby is more or less likely to have certain chromosomal conditions but it will not give you a define answer. 

 

Is this test right for you ?

NIPT may be right for you if you want more information about wether a chromosomal condition is present in your pregnancy. It is an excellent option if you are unsure if you want invasive diagnostic testing (for exemple amniocentesis or CVS). Chromosomal conditions most often occur by chance. They do not usually run in families or either caused by anything a pregnant woman do or do not before or during pregnancy.

 

Most common chromosomal conditions:

  • Down syndrome (trisomy 21) is caused by an extra copy of chromosome 21.
  • Edward syndrome (trisomy 18) is caused by an extra copy of chromosome 18.
  • Patau syndrome (trisomy 13) is caused by an extra copy of chromosome 13.

 

How precise is the test?

 NIPT is a more accurate prenatal aneuploidy screening option than conventional prenatal serum screening, and is available for all pregnant women. The false positive rate for trisomies 13, 18 and 21 is less than 0.13%.
  • Trisomy 13 (Patau syndrome): detection rate at 99.0%
  • Trisomy 21 (Down syndrome): detection rate at 99.7%
  • Trisomy 18 (Edward syndrome): detection rate at 97.9%

 

Does this test pose a risk to the mother and the baby?

This test is as simple and safe as a blood test. It allows you to screen for all chromosomal aneuploidies without the risk of an invasive procedure. Fewer invasive tests mean less risk to the mother and the fetus. This test thus makes it possible to reduce the number of invasive procedures..

 

Limitations of the test

Noninvasive prenatal testing based on cell-free DNA analysis from maternal blood is a screening test; it is not diagnostic. False positive and false negative results do occur. Test results must not be used as the sole basis for diagnosis. Further confirmatory testing is necessary prior to making any irreversible pregnancy decision. A negative result does not eliminate the possibility that the pregnancy has a chromosomal or subchromosomal abnormality. This test does not screen for polyploidy (eg, triploidy), birth defects such as open neural tube defects, single gene disorders, or other conditions, such as autism.

 

 

If you would like to learn more about NIPT testing, we suggest you to download the NIPT Insights app. You will find many information. For any concerns regarding your health, you should consult your doctor or a healthcare professional. The MAÏA Institute is in no way responsible for the accuracy of the data provided on this page since the field of medicine is constantly evolving.

- Sabrina Sauvé
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