Understanding the Non-Invasive Prenatal Test (NIPT): A Guide for Expecting Parents

Highlights

• The non-invasive prenatal test (NIPT) screens your baby for genetic health conditions.
• You may want to consider genetic counseling before having an NIPT to help you make an informed decision.
• If your NIPT result shows that your baby is likely to have a chromosomal difference, a diagnostic test such as chorionic villus sampling or amniocentesis can confirm your result.

In This Article

• Understanding the Non-Invasive Prenatal Test (NIPT)
• Conditions Detected by NIPT
• Choosing to Undergo NIPT
• Interpreting NIPT Results
• Cost of NIPT
• Tools And Assistance

Understanding the Non-Invasive Prenatal Test (NIPT)

The non-invasive prenatal test (NIPT) is a highly accurate screening test. Screening tests are used to determine if your baby has a higher chance of having a genetic health condition, including Down syndrome and other chromosomal abnormalities. NIPT involves a simple blood test that is performed during the first trimester of pregnancy.

There are various types of prenatal testing available to check the health of your baby. It is your choice whether or not you wish to have these tests. It is important to discuss your options with your doctor or genetic counselor and take the time you need to make an informed decision.

Screening tests differ from diagnostic tests. Diagnostic tests are typically more invasive but provide a definitive result if the test is positive.

During pregnancy, some of the baby’s DNA passes into your bloodstream. The non-invasive prenatal test analyses the genetic information in this DNA. It is used to screen for several genetic conditions and is particularly sensitive to Down syndrome. The test was first made available in clinical settings in 2012.

NIPTs are usually offered at private centers and may involve an out-of-pocket cost. Different companies may offer the test under various names, such as Harmony, Generation, or Percept.

The NIPT is typically performed from 10 weeks into the pregnancy. Prior to the test, you will be asked to give your consent.

Conditions Detected by NIPT

The NIPT is a safe and highly effective way to screen for certain conditions. These include:

• Down syndrome (trisomy 21)
• Edwards syndrome (trisomy 18)
• Patau syndrome (trisomy 13)
• Turner syndrome

Some laboratories may also test for the sex of your baby and look for potential differences in the sex chromosomes.

It’s important to note that the test identifies many chromosomal anomalies but does not screen for genetic disorders such as:

• Cystic fibrosis
• Thalassemia
• Sickle cell anemia

Screening will provide an estimate of how likely it is that your baby has a chromosomal abnormality. The only way to know for sure is through a diagnostic test such as:

• Chorionic villus sampling (CVS)
• Amniocentesis

Choosing to Undergo NIPT

The NIPT is highly sensitive and detects more than 99% of Down syndrome cases. However, it is a screening test, not a diagnostic one.

The NIPT can give you an indication of whether there is an increased likelihood that your baby has a genetic condition, but it will not provide a definitive answer. For some parents, the information from screening tests helps them decide whether to pursue diagnostic testing.

You might choose to have an NIPT if:

• Your first trimester combined screening test shows an increased chance of having a baby with Down syndrome
• You were unable to have the first trimester combined screening test
• You wish to understand your chances before considering diagnostic tests
• You are older, or you or your partner already have a baby with a genetic condition

It’s recommended to consider genetic counseling before undergoing NIPT to ensure that you fully understand the risks and benefits of taking the test.

Genetic counselors can:

• Review your family and medical history
• Provide information about genetic tests
• Explain how the condition is inherited
• Offer advice on available support services

Interpreting NIPT Results

It may take up to 2 weeks to receive your NIPT results.

If the NIPT result indicates that your baby is likely to have a chromosomal difference, diagnostic tests such as CVS or amniocentesis can confirm the result.

You should discuss your options with your doctor, midwife, or genetic counselor to decide on the next steps.

Cost of NIPT

The NIPT is typically not covered by public health insurance, and you may need to pay for it out-of-pocket. The cost usually ranges between $400 and $500.

Additional costs may include consultations with your doctor for a referral, as well as any necessary ultrasounds.

Tools And Assistance

It’s essential to speak with your doctor or a genetic counselor before undergoing an NIPT to make an informed decision. They can help guide you through the process and explain the potential outcomes.

If you need more information, many health services offer genetic counseling. You can find genetic counselors in your area by searching online or asking your healthcare provider for recommendations.

If you have any questions regarding the NIPT, your healthcare provider can address your concerns or refer you to specialized support services.

Need more information?

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