March 2016 Moms

Genetic testing

what is the difference between the panorama testing and the NT test? I've seen people getting both done, I'm a second time mom and only remember having the NT blood test done. I also see people are getting the genders confirmed by the panorama test! Can someone explain?

Re: Genetic testing

  • If I understand correctly, panorama testing is a blood test. Nuchal Translucency (or First Trimester Screen) is a detailed sonogram and analysis by genetic counselor. Am I right, others? 

    FWIW, I'm having both done. But I'm AMA and pregnant with twins. :) So I get extra special care apparently. 
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  • The panorama is relatively new to the public, too, which is why you're now hearing about it. It's 99.9% accurate (or thereabouts) for diagnosing certain genetic disorders. Because the baby's dna randomly floats freely in the mother's dna, it's easy to grab in the blood and test! And because the docs/scientists can read the baby's dna, they can confirm sex. 
  • Oh ok thank you for clarifying! @ajgreen78
    I wonder if it's something your doctor will suggest or if you have to ask for it?
  • Oh ok thank you for clarifying! @ajgreen78 I wonder if it's something your doctor will suggest or if you have to ask for it?
    Likely, he/she will suggest one or the other. More likely if you're advanced maternal age (AMA) or high risk. Insurance sometimes doesn't want to pay for both tests, so be sure to call them first. :) 
  • Gotcha. With my first, they offered just the NT scan and it was a two part test, blood & sono. But I do wonder if they can go ahead and test for the gender too while they have my blood already ;)@ajgreen78
  • They can do the gender but it's extra cost to you just ask them

  • I had the same question and did research to fully understand the difference between the NT ultrasound and blood test vs. NIPT (non-invasive prenatal test) First, both are considered screening and only a CV or amnio is considered diagnostic. So, if you have a high risk or positive NT or NIPT  the likely recommendation would be to have a CV or amnio for a confirmatory diagnosis.

    I am having both the NT ultrasound with blood work and the NIPT. Even though they are both considered screenings, the NIPT is much more accurate than the bloodwork done with the NT scan.  (>99% for Down syndrome) 

    I am also over 35 so my insurance will cover the NIPT. Many insurance companies will only cover for certain high risk factors. With the NIPT test you can request (usually out of pocket expense) to check the baby's gender so many women who have this done find out early in the pregnancy if they are having a boy or girl as you can get a NIPT as as early as 10 weeks pregnant.  There are 4 companies that offer this test and they are all called different names but the test is the same. There are some differences in their detection rates, cost and how they report the results. For more information regarding this and your genetic testing options the link below was really helpful in my research.




    NT ultrasound and blood work:

     The first part of the test involves an ultrasound that will measure the nuchal translucency (NT).  The NT is an accumulation of fluid at the base of the baby’s neck that is expected to be seen in all pregnancies.  A measurement above 3.0-3.5mm is considered to be “abnormal.”  An increased NT is associated with a higher risk for chromosome abnormality or structural defect (like a heart defect).

    The second part of the 1st trimester screen involves a blood draw from the mother that will measure two proteins that are made by the pregnancy (PAPP-A and hCG).

    A risk assessment for the pregnancy will be calculated based on the NT measurement, protein levels from the blood draw, and numerous other factors (maternal age, ethinicity, diabetics, ect.).  The detection rate for Down syndrome is 83% with a false positive rate of 5%.  The detection rate for trisomy 18 is approximately 80% with a false positive rate of <1%.

    NIPT test

    Noninvasive prenatal testing (NIPT) is a new technology that is able to isolate fragments of the baby’s DNA from a sample of the mothers blood (using cell-free fetal DNA technology).  The test is able to screen for Down syndrome, trisomy 18, trisomy 13, and sex chromosome abnormalities with a high detection rate.  There are no risks to the mother or the baby because it just involves a blood draw from the mother.  The testing can be done as early as week 10 in a pregnancy and results are typically reported within 1-2 weeks.





  • Thank you @vicsim1220 for the clarification!!!
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