Prenatal Testing Advances Indicate Potential for Certain Genetic Syndromes and Diseases

Prenatal Testing

Once upon a time, pre-natal testing for many genetic conditions, syndromes, and diseases was a risky proposition – posing a risk to both mother and child. Both the amniocentesis and the chorionic villus sampling (CVS) tests have serious risks including the risk of miscarriage. The CVS test is not recommended for women who are carrying twins, have active infections, or have experienced vaginal bleeding during their pregnancies.

For mothers with concerns over certain genetic conditions or falling within certain risk categories, these risks were often undertaken so that proper plans and accommodations could be made before welcoming their new baby into the world. Today, though, the NIPT prenatal testing process eliminates the need for riskier testing in many instances by ruling out the potential for certain genetic conditions. NIPT testing, while not diagnostic in nature, is a non-invasive procedure that accommodates single and twin pregnancies, and can be used any time after the 10th week of pregnancy.

What Conditions Can be Detected through NIPT Testing?

The non invasive prenatal testing option provided by NIPT screening means that you can test for a variety of genetic conditions without putting mother or child at risk. The process requires a simple extraction of the mother’s blood from which the baby’s DNA is abstracted. The baby’s DNA is then tested for the following conditions:

  • Down Syndrome
  • Edwards Syndrome
  • Sex Chromosome Abnormalities
  • Patau Syndrome
  • Triploidy

This test goes beyond chromosomal abnormalities and can also be used to detect the genetic possibility of developing certain conditions like congenital heart failure.

Beyond the standard genetic conditions that are routinely screened for during pregnancy, microdeletions affect nearly one of every 1,000 pregnancies. Despite this high rate of occurrence, microdeletions are not included in routine pre-natal testing.

NIPT testing provides a noninvasive prenatal testing process for microdeletion syndromes that include Angelman Syndrome, Cri-du-chat, Prader-Willis Syndrome, Wolf-Hirschhorn Syndrome, and 22q deletion syndrome – among others.

Microdeletion syndromes are of particular concern for expecting parents because there is no rhyme or reason to them. They can affect anyone with no warning. There are no indications or identifiers of risk like race, ethnicity, family history, or even age to go by. Testing for microdeletions allows you to have peace of mind that these conditions aren’t likely to affect your baby.

Testing During Pregnancy

Because there are so many risks associated with the Amniocentesis and Chorionic Villus Sampling tests many women are reluctant to undergo any genetic screenings during pregnancy. The NIPT offers a non-invasive prenatal testing option that can rule out the need for these invasive tests altogether by signaling that all is well with your baby’s genetic information. It’s a test that is about giving you peace of mind without the high risks that are involved in the more invasive testing processes.

The benefits of the NIPT is that is offers you the following in one convenient package:

  • Safe: completely non-invasive posing no risks to the pregnancy.
  • Comprehensive: tests for a variety of syndromes in single and twin pregnancies.
  • Fast: results are generally available within five business days.
  • Counselling: you are provided with full genetic counselling so that you understand the risks, limitations, and benefits of the screening and the information it provides.

NIPT provides prenatal genetic screening so you can make informed decisions about any decision to proceed with more invasive genetic testing procedures.

By | 2017-03-30T12:40:49+00:00 March 30th, 2017|Baby, Health & Fitness, Parenting|0 Comments

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