Non-Invasive Prenatal Testing

What is Non-Invasive Prenatal Testing and when is it done?

Non-Invasive Prenatal Testing, also called NIPT, is a blood test done during pregnancy that screens for Down syndrome (also called trisomy 21), trisomy 18, and trisomy 13.

  • It also screens for conditions caused by extra or missing sex chromosomes, such as Turner syndrome.
  • NIPT can be drawn as early as 10 weeks gestation and results generally take about 2 weeks to return.
  • NIPT is a highly accurate screen, but it is not 100% accurate and cannot provide a yes or no answer. NIPT can only estimate whether the risk of having certain conditions is increased or decreased.

Watch a video to learn more about NIPT

What are the possible results from NIPT?

  • Negative/Low Risk: A Negative or low risk result means that it is very unlikely the pregnancy has one of the conditions. NIPT screens for. It is important to remember that this test is not 100% accurate and does not screen for all genetic conditions.
  • Positive/High Risk: A positive or high risk result means the pregnancy is at increased risk for a particular condition. Only diagnostic testing can give a definite answer. Genetic counseling is recommended to discuss positive/high risk results and further testing options.
  • No Result/Inconclusive: There is a small possibility that results may not be reportable or may be inconclusive. In these cases, your healthcare provider may recommend you have your blood redrawn, have different testing, or have genetic counseling to discuss your options.

What are my other options?

Diagnostic testing is available and can provide a “yes” or “no” answer regarding chromosome conditions during the pregnancy. There are two options: chorionic villus sampling (CVS) and amniocentesis. Both diagnostic procedures are performed by an experienced specialist; both also carry a risk for pregnancy complications and/or miscarriage (less than 1%).

You also have the option to decline all prenatal testing. Regardless of your testing decision, ultrasound looks for birth defects and markers for genetic conditions. Ultrasound alone cannot rule out all birth defects or genetic conditions.

Where can I learn more about Non-Invasive Prenatal Testing?

You can visit these helpful websites or you can call to set up an appointment with a genetic counselor to discuss carrier screening in more detail.

To schedule an appointment with a genetic counselor to discuss NIPT, please call 713-486-9302