הורים וילדים

  • 16-02-2015
  • מאת שיואושר

Noninvasive Prenatal Testing (NIPT)


 

What is NIPT?

 


This simple blood test can help doctors recognize your baby's condition, more than ever before, making genetic screenings more reliable.

Noninvasive prenatal testing (NIPT) involves a simple blood screening that analyzes cell-free DNA to pinpoint the baby’s risk for a number of genetic disorders including Down syndrome. 

These tests are considered screening tests, meaning, they are not diagnostic tests, due to likelihood reporting of your baby's risk. Calculation of the probability very accurately and unambiguously indicates whether the baby carries a syndrome.    

The test results can help you and your physician decide on the treatment's next step- Does invasive testing, although more accurate, but increase the chance of miscarriage, worth the risk?

How is NIPT done?

This simple and fast blood test is performed in a clinic and therefore very safe for you and your baby. The sample is sent to a laboratory abroad, where fetal DNA is tested for the presence of specific genetic defects.

Once the results are back they are forwarded immediately to the doctor, who performed the test, so that he can give you his professional opinion on how to proceed in accordance to the results obtained:
If it is positive, your doctor probably will recommend invasive testing, such as Amniocentesis or CVS, in order to confirm the results and may, if necessary, examine other syndromes that are not tested by the NIPT.

What does NIPT screen for?

In Israel NIPT tests are offered by five different companies, all check for the existence of the most common syndromes: Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome). Only a few of them, such as Panorama test, check for Microdeletion syndromes as well and checking for Triploidy is Panorama's exclusive uniqueness.
Moreover, Panorama can even tell you the sex of the baby, if you want to know!

It is important to note that, in contrary to Panorama test, other tests are unable to distinguish fetal from maternal DNA (which makes them much less accurate).

When is it done?

Panorama test can be performed starting from the 9th week of pregnancy, earlier than any other screening or invasive tests.

The accuracy of NIPT 

Studies have shown that NIPT tests reduce false positive rates in comparison to other standard blood tests performed in the first trimester and check for specific hormones and proteins found in the mother's blood.

Another study has shown that NIPT tests are more accurate in predicting the risk of Down syndrome (99%), as well as Edwards syndrome than other standard screening tests.

Who is it for?

These tests are recommended for women who are considered at risk, such as women over 35, who have given birth to babies with genetic syndromes, whose prenatal test results were concerning or women with familial history. Nonetheless, women, who are not considered at risk and look for peace of can do the test as well, without any concerns.

NIPT tests are not recommended for multiple gestation pregnancies or in cases of egg donation.

What else do you need to know?

You can get a refund for the test from HMOs and private insurances.

After receiving the results, you may consult with your doctor or genetic counselor with whom you did the test regarding on how to proceed.

A blood test as an alternative to amniocentesis

 


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