Thursday, September 21, 2023

Everything You Need To Know About Noninvasive Prenatal Screenings

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As a new expectant mother, you likely have a long list of questions about how to best ensure the health of your baby. You know it’s critical to have early and accurate information, so you can take proactive steps during your pregnancy to prepare for this exciting new chapter in life.

And while it’s normal to feel anxious about your pregnancy journey, tools like noninvasive prenatal screening are one way to get some real answers about your growing baby.

So, what is noninvasive prenatal screening (NIPS)? NIPS, also known as prenatal cell-free DNA screening, is an optional genetic screening tool designed to detect risk for certain chromosomal conditions while pregnant. “I recommend genetic screening to all my patients at 10 weeks into their pregnancy,” says Dr. Vian Nguyen, chief of clinical services at Legacy Community Health in Houston, TX. “Most of my patients that decide to pursue NIPS receive low-risk results and with that, the peace of mind that their pregnancy and the baby are genetically healthy.”

However, it can be overwhelming to determine which screen is best for you and your baby when your clinician presents you with options around your 10-week appointment.

To help expecting parents understand the benefits of genetic testing, we partnered with Myriad Genetics to explain how NIPS testing may help you make key decisions when assessing your baby’s health.

1. It Provides Early Insights Into Your Child’s Development

NIPS provides insights into your baby’s development without increasing the risk of miscarriage. These tests use information such as maternal blood samples to determine if a pregnancy is at increased risk for a variety of fetal chromosomal abnormalities including Down, Edwards, or Patau syndromes.

Myriad Genetics’ Prequel Prenatal Screen is one example of such a screen that can be administered as early as week 10 of gestation, while you’re still in your first trimester. Prequel specifically screens for trisomies like Down syndrome, in addition to microdeletions, which may cause intellectual disability, issues with motor skills or miscarriage, or birth defects. This information can be vital to help parents prepare for and understand their baby’s potential needs.

Prequel can also screen for the expected sex of your baby and sex-chromosome related conditions weeks earlier than an ultrasound — if that’s something you’re interested in. Prefer to be surprised? Simply opt out of screenings that predict sex chromosomes.

2. Screenings Can Help You Prepare For The Future

While few patients receive high-risk results, this information is priceless, as it gives them options and an opportunity to schedule more comprehensive diagnostic testing. “If the high-risk results are confirmed, they can prepare to have the baby at a specialized clinic, or access other resources such as specialists and support groups early on into parenthood,” said Nguyen.

For example, if Prequel results identify an elevated risk for Down syndrome, you may opt to receive diagnostic testing at your next appointment, as early as weeks 11 to 14 of pregnancy. This valuable time allows expectant parents to research developmental pediatricians, pediatric cardiologists, support groups and hospitals that specialize in the care and delivery of a baby born with the disorder.

3. Non-Invasive Prenatal Screens May Start With A Blood Sample

Prequel begins with a simple blood draw that is sent to the Myriad Genetics lab for analysis. Personalized results will be delivered in less than two weeks, along with access to a board-certified genetic counselor who can help educate you and explain your results or answer any questions you may have.

If your screen reveals something unusual, you can and should discuss it with your healthcare provider, who may order a follow-up diagnostic procedure, like chorionic villus sampling (CVS) or amniocentesis, to confirm results.

4. NIPS Like Prequel Deliver Reliable Results

By delivering the lowest screening failure rate in the industry, Prequel lowers the chance of needing a repeat test or an unnecessary invasive diagnostic procedure. Prequel provides results to more than 99.9% of patients. The advanced science and technology works for any expectant parent regardless of age, ancestry, or BMI, including those with twin and IVF pregnancies. [1, 2]

Every Prequel Prenatal Screen provides clear, user-friendly results and access to board-certified genetic counselors for post-test education. With reliable results and support in-hand to deliver clarity of a patient’s true risk, new moms can feel confident and prepared for the next steps of their pregnancy.

Importantly, NIPS like Prequel are not a diagnostic test. Prequel reports summarize the likelihood that your child will be born with a genetic condition or abnormality. If the results identify something concerning about your risk, your doctor or a specialist may investigate further using diagnostic tools.

5. Prequel is affordable

Myriad Genetics works to ensure Prequel is affordable in three key ways:

  • Broad in-network status with health plans
  • Financial assistance and payment plans, for those who qualify
  • Personalized cost estimates

Every Prequel Prenatal Screen includes scheduled or on-demand consultations with board-certified genetic counselors and/or with our customer service team about billing questions.

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Every pregnancy is unique, and the information found in NIPS may help all expecting parents better understand their pregnancy, so they can take actions to manage the pregnancy and the baby’s health. Prequel is only a part of a puzzle and does not screen for all genetic conditions. Other screenings, like ultrasounds and carrier screening, can also help you better understand your pregnancy’s health.

Ready to get some real answers about your baby? For early insight into your baby’s development, and peace of mind about the months that lie ahead, ask your clinician about Prequel Prenatal Screening.

RESOURCES

  1. Hancock S, Ben-Shachar R, Adusei C, et al. Clinical experience across the fetal-fraction spectrum of a non-invasive prenatal screening approach with low test-failure rate. Ultrasound Obstet Gynecol. 2020;56(3):422-430. doi:10.1002/uog.21904.
  2. Muzzey D, Goldberg JD, Haverty C. Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk. Prenat Diagn. 2020;40(3):333-341. doi:10.1002/pd.5603.

Myriad Genetics is a genetic testing company. Myriad, Prequel and their logos are either trademarks or registered trademarks of Myriad Genetics, Inc., and its subsidiaries, in the United States and other jurisdictions.


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