Non-Invasive Testing & Carrier Screening

Due to the advances in OB/GYN technology, Plano Women’s Healthcare can offer genetic screening to pregnant mothers within the first trimester. This simple blood test can provide a vast array of information, including information on the sex of the baby and screening for a variety of chromosomal abnormalities. Your knowledgeable, experienced physician can provide you with information on the latest elective, non-invasive testing options, as well as which of these are right for you and your baby.

Non-Invasive Testing

The most common type of testing offered and performed is NIPT or non-invasive prenatal testing. NIPT has gained worldwide popularity due not only to its non-invasive technique but also because of its accuracy.

NIPT is considered non-invasive because there is no risk to the fetus since all that’s required is a simple blood test from the mother only. It works by detecting placental blood fragments that circulate in the mother’s blood.

This test looks for disorders that are caused by the presence of an extra chromosome or a missing copy of one, including but not limited to Down syndrome. As technology advances and costs decrease, NIPT will be used to test even more genetic conditions.

The NIPT is a screening, so while it is considered accurate, it cannot provide a definitive answer regarding whether the fetus has a genetic condition or not. The test only estimates the risk of certain conditions.

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Carrier Screening

In addition to non-invasive testing, our office also provides carrier screening. These tests can be performed on both pregnant and non-pregnant individuals since the results are testing maternal (or patient) blood only.

The most commonly selected panel includes carrier screening for:

  • Alpha-thalassemia
  • Beta-hemoglobinopathies (including sickle cell disease)
  • Canavan disease
  • Cystic fibrosis
  • Duchenne/Becker muscular dystrophy
  • Familial dysautonomia
  • Fragile X syndrome
  • Galactosemia
  • Gaucher disease
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Polycystic kidney disease, autosomal recessive
  • Smith-Lemli-Opitz syndrome
  • Spinal muscular atrophy
  • Tay-Sachs disease

Depending on your preference and/or risk factors, we can perform additional tests and panels as well. Your highly skilled OB/GYN can guide you and your partner on which testing to order based on your unique risk factors.

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FAQs About Carrier Screening and Non-Invasive Testing

Here are just a few questions our patients ask about screening and testing options.

How Early Can I Be Tested?

Carrier screening can be done at any time, even during a preconception counseling visit. NIPT testing is done only during pregnancy and at 10 weeks or later.

How Quickly Will I Get the Results from These Tests?

The testing can take up to 2 weeks to come back. You will hear from our office as soon as your results are received.

What Does NIPT Screen For?

Most NIPT tests screen for:

  • Fetal sex
  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards' syndrome)
  • Trisomy 13 (Patau syndrome)
  • Monosomy X (Turner syndrome)
  • Triple X (Triploidy XXX)

Does Insurance Pay for Carrier Screening or Non-Invasive Testing?

Many companies will provide coverage for these services, though some do not. Coverage will depend on your insurance company, the type of policy you have, and the coverage they provide, as well as any terms and conditions. Coverage and pricing information will be discussed with you at your first prenatal visit.

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Resources

For more information on testing menus, pricing options, and other FAQs, please visit the following links provided by our lab carriers.

Testing Provides You with Comfort and Confidence

Pregnancy is a thrilling time. It can also be a scary time because there are often so many unknowns. Thankfully, with modern technology, we can help ease your mind. Schedule your appointment for carrier screening and non-invasive testing, so you can experience the comfort that comes from feeling confident about your baby’s health and your pregnancy.

Still have questions about non-invasive testing and carrier screening in Plano?

Contact our team at 972-596-2470. We’re happy to help!

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