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Pharmacogenomics and Science to Ease Pregnancy Concerns

April 5, 2017 by Pam Maynard

Expecting parents have a million things to worry about from the moment you learn there is a new life growing inside of you. From concerns over paying for college to worries about all the little hiccups life there is little that is off limits when it comes to the worries new parents face.

One of those concerns that causes bone deep fear for many parents is the health of the baby growing inside. Genetic disorders and conditions are high on the list of things expecting parents worry about. Unfortunately, genetic testing in the past has posed great risks to mother and child. Today, there is a new alternative, the NIPT blood test screening that can offer some comfort to expectant parents related to the genetic health of their unborn children.

What is the NIPT Test?

The NIPT test is being billed as a non invasive blood test for Down syndrome, but there is more to it than that – and less. It isn’t meant to act as a definitive diagnosis for Down syndrome or any other medical condition. It simply indicates whether further, more invasive, testing might be called for or if the need for the riskier tests can be ruled out based on the baby’s genetic information, which can be gleaned from the blood of the mother-to-be.

What Conditions Can be Indicated by the NIPT Screening?

This non invasive chromosomes check allows you to check for the potential of a number of conditions and situations including microdeletions, which are not included in most routine pre-natal screenings – even though microdeletions affect nearly one of every 1,000 pregnancies. This is in addition to testing for other conditions like Edwards Syndrome (Trisomy 18), Triploidy, Sex Chromosome Abnormalities, and Patau Syndrome (Trisomy 13). You can also use NIPT screening to help detect the potential for medical conditions, such as congenital heart failure.

Why Consider a Private Screening for Genetic Conditions?

For parents who have specific concerns about the genetic health of their babies, there are few things that can provide greater comfort and peace of mind with fewer risks. While this private blood test for Down syndrome is not a diagnostic test, it can rule out the potential for Down syndrome without requiring the riskier diagnostic procedures like an amniocentesis or the Chorionic villus sampling test for conditions like Down syndrome.

Who Can Take the NIPT Test?

You don’t have to jump through a bunch of hoops to take the NIPT screening. In fact, it is available to a far greater number of expectant mothers than other available screenings.

  • Available any time after the 10th week of pregnancy.
  • No physician referrals are required for NIPT testing.
  • Results are available within days.
  • Low failure rates.
  • Useful in single pregnancy and with twins.
  • May include testing for sex chromosome abnormalities and microdeletions in the testing process.

Results of your screening will generally be available within five days of the testing and you will have access to full genetic counselling prior to the testing and to offer follow-up support if it is needed.

Not only does NIPT testing provide you with peace of mind, but it also enables you to make informed decisions about whether or not more invasive genetic testing may be warranted while also providing education, through consultations with genetic counsellors, about what your options for further testing may be.

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Filed Under: health Tagged With: pregnancy

About Pam Maynard

Meet Pam, the heart and soul behind Mom Does Reviews! This busy wife, mom, and content creator shares her life from her happy homestead in New Hampshire. Her home is a bustling hub of love, shared with her son and three lively dogs. When she's not busy crafting engaging content, you can often find Pam enjoying quality time with her furry companions, indulging in her favorite chocolate, and savoring a good cup of coffee.



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