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Know more sooner: The benefits of prenatal genetic screening

(BPT) - As hopeful parents start their reproductive journeys, they may be offered a variety of tests and screenings, which can be opportunities to learn more about their own health and about a pregnancy and developing baby. These tests and screenings may provide reassurance that all is well, or chances to seek further information.

Prenatal genetic screenings, in particular, can help determine whether your baby may be at risk for certain genetic or chromosomal conditions. With the help of a clinician, you'll be able to navigate genetic screening information without feeling overwhelmed and make a plan for what comes next.

What is prenatal genetic screening?

Prenatal genetic screenings use a blood sample to test the parents or the pregnancy. These screenings allow expecting parents to learn about their own genes and how those may impact their baby, or get insights into the baby's development and discover the baby's predicted sex - well before birth.

There are two types of prenatal genetic screenings:

  • Carrier screening: This prenatal genetic screening lets parents know if they're carriers of a serious genetic condition and can help determine a baby's chance of having specific inherited conditions like cystic fibrosis or fragile X syndrome. It's possible to be a carrier of a genetic condition without showing any symptoms of the condition. Carrier screening can be done before or during pregnancy.
  • Non-invasive prenatal screening: Cell-free DNA screening, also known as NIPS or NIPT, can help determine if a baby has a chance of having specific chromosomal conditions like Down syndrome. This screening is done during pregnancy.

Why does clear information matter?

Prenatal genetic screening can play an important role in helping expectant parents make informed decisions during pregnancy. By identifying potential genetic risks early, screening may provide valuable insight into a baby's health risks giving families time to learn, ask questions, and consider next steps such as diagnostic testing or other care options recommended by their healthcare providers. These screens can help guide conversations between families and their health care providers as well as support personalized care and informed planning during an emotionally complex time.

"Knowing medical information early in their pregnancy can give expectant parents the most options," said Dallas Reed, M.D., FACMG, FACOG, obstetrician-gynecologist and medical geneticist, and principal medical advisor of Women's Health for Myriad Genetics®. "Normal results can provide reassurance, while positive results open the door to thoughtful conversations about next steps between families and their healthcare providers, helping them feel more prepared and supported as they make choices for their pregnancy."

A prenatal genetic screen for everyone

Any expecting parent can benefit from a genetic test, not just those who have a family history of certain inherited conditions. If you're considering having a baby, ask your doctor about the Prequel® Prenatal Screen and the Foresight® Carrier Screen, non-invasive blood or saliva tests designed for everyone regardless of ancestry or BMI.

The Prequel screen checks for increased risk of certain common chromosome conditions by analyzing placental DNA in the pregnant person's blood, and with most results available in seven to 10 days. This prenatal screening can be done as early as eight weeks, giving parents as much time as possible to make a plan with their healthcare provider based on the screening results. The Foresight screen can help determine whether parents carry inherited health conditions that they may pass on to their child.

While most reports deliver low-risk results, if you do want to talk them through, Myriad offers on-demand access to board-certified genetic counselors to help interpret results and answer questions about your baby's health risks.

Determining next steps

If a screen reveals a high-risk result, it's important to keep in mind that screening is just the first step. Genetic insights based on prenatal screening give you precious time to pursue diagnostic tests like amniocentesis, consult specialists, find the best-equipped medical facilities for your birth, and connect with parents who have been in your shoes.

Your healthcare provider may offer follow-up testing or a conversation with a specialist to explore results further and discuss options.

Feel empowered, not overwhelmed

Genetic testing helps parents understand what to expect, giving them insights to help make thoughtful choices for their family.

If you're pregnant or planning to become pregnant, check out Myriad's Prequel Prenatal Screen, a screen that assesses common chromosomal conditions, as well as the Foresight Carrier Screen, which looks for genetic conditions that parents might pass down to their children, and SneakPeek® Early Gender Test, which allows parents to learn about their baby's predicted sex as early as six weeks.

Myriad Genetics also offers resources like Know More Sooner to help make the pregnancy journey clearer and more supportive for families, and debunk common myths about genetic screening.

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