Syndromes and Diseases that Can be Detected with Non Invasive Prenatal Testing

Prenatal testing has been a normal part of the pregnancy process for expectant mothers for many generations – particularly when there was reason to suspect that the fetus may have a predisposition or heightened risk for certain genetic conditions, syndromes, or abnormalities.

Unfortunately, testing for these conditions has, at times, placed both mother and baby at risk because of the extraordinary measures required to access blood from the actual fetus. This is where ta new breed of testing comes into the picture with the promise of changing the way the world conducts prenatal checks for many of the conditions listed below.

Down Syndrome

Down Syndrome is a chromosomal condition in which there is typically an extra copy of chromosome 21 resulting in intellectual impairments along with physical abnormalities. Traditionally, invasive tests, like an amniocentesis, have been required to detect this condition in fetuses.

Non invasive prenatal testing today allows physicians to rule out the possibility of Down syndrome in the fetus as early as 10 weeks into the pregnancy. For mothers-to-be at heightened risk of carrying a child with Down Syndrome, this can be a huge and immediate weight off their shoulders. More importantly, the NIPT prenatal testing process offers far fewer risks to both parties than the more invasive options of an amniocentesis or CVS.

The noninvasive prenatal screening test will not completely eliminate the need for amniocentesis. It is not a diagnostic test. What it does offer expectant mothers, is an opportunity to rule out Down Syndrome without going through the risks an amnio delivers.

There are other syndromes that can be detected or discovered through non-invasive prenatal testing. These include tests such as:

  • Edwards Syndrome (Trisomy 18)
  • Patau Syndrome (Trisomy 13)
  • Sex Chromosome Abnormalities
  • Triploidy

Additionally, NIPT testing can be used to help detect certain conditions like congenital heart failure.

Microdeletion Syndrome

Perhaps one of the biggest advancements in prenatal genetic screening is the ability to screen for various microdeletion syndromes including:

  • 1p36 deletion syndrome
  • 22q deletion syndrome
  • Angelman Syndrome
  • Cri-du-chat
  • Prader-Willis Syndrome
  • Wolf-Hirschhorn Syndrome

If you’re wondering why it is so important to test for these conditions, consider this. Microdeletion is more common than you realize – even though you may have never heard of it by now. It affects roughly one of every 1,000 pregnancies. The other thing to consider is that it isn’t routinely screened for as part of a routine prenatal screening. There are also no indicators or risk factors that point to the possibility of this condition. It can affect anyone – regardless of age or ethnicity. It can even occur if there is no family history of the condition to warn of the potential.

Parental Pre-Pregnancy Testing

Another consideration to keep in mind when it comes to genetic screening is the ability to conduct genetic screenings of both perspective parents before getting pregnant. Pre-pregnancy screenings allow for genetic testing to indicate the risks your child faces of inheriting more than 300 different diseases from the two of you. This information can be instrumental in your decision to have a child, fertility treatments you may pursue, and countless other options you have, for the health of your child, as parents.

Prenatal genetic screening for these conditions and more can help you make informed decisions about the future of your unborn baby without placing your baby at risk during the testing process.

Post Author: Kathleen Relyea

Kathleen Relyea