Magazine article The Exceptional Parent

Prenatal Testing: Understanding What's New and How to Get Support and Information

Magazine article The Exceptional Parent

Prenatal Testing: Understanding What's New and How to Get Support and Information

Article excerpt

Over the past few years, new non-invasive prenatal screening tests (NIPS) for genetic conditions have been introduced and heavily marketed with the promise of being safer and more accurate--meaning that more families are learning during pregnancy that their child might have a health issue or disability. But, what's the real impact on families? Are pregnant women getting counseling beforehand so they understand reasons why someone might or might not want to undergo testing? Are they getting accurate information about the tests and an overview of the conditions? Do they know that some tests are for screening, and not a test for a definitive diagnosis? And, perhaps most important, are families who get these results receiving compassionate support and up-to-date information so that they know what it actually means to live with a condition, including social supports and family outcomes--not just a laundry list of possible medical issues.

Before undergoing testing, it's important for expectant parents to understand that genetic tests during pregnancy are optional, not a routine part of pregnancy care, like an ultrasound. However, one study showed that up to a third of the pregnant women did not realize they were even being tested. So, it's most helpful for expectant parents to talk to their doctor before testing about their thoughts, feelings, and how they might use the information.

For example, some pregnant women might choose to have prenatal testing to arrange specific birth plans, obtain information only, or make decisions regarding pregnancy options. There are some who might want prenatal test results so they can make birth plans such as delivering at a hospital with a Newborn Intensive Care Unit. Others might only want information so they can learn more about the condition, prepare for the birth of the child, and connect with support organizations. One mother told us, "Having a prenatal diagnosis allowed us time to prepare and educate ourselves. This also allowed us to see a cardiologist and learn about our son's heart defect and make a care plan."

It's also important for expectant parents to know that if they undergo testing and receive results showing high chances for a genetic condition, their doctor will likely discuss their pregnancy options and talk about whether or not they want to continue a pregnancy or make an adoption plan. No family should feel pressured to make a decision, but it is a standard part of medical care to present all the potential options. Some families may feel surprised or hurt by these conversations, and this is why it's important for them to talk to their provider beforehand about their values and reasons for testing.

Some families might not want any prenatal testing and feel it would not be helpful or that it would cause unwanted stress and worry. Meriah Nichols wrote, "I deeply regretted having the amniocentesis. I regretted knowing that she'd be coming with Down syndrome. My angst over our decision to keep her consumed me, kept me awake for most of my pregnancy, endless insomnia." (I Regretted My Amnio by Meriah Nichols)

The range of conditions included in prenatal screening tests continues to grow. Current tests include Down syndrome, trisomy 13 and 18, Klinefelter and Turner syndromes, 22q deletion syndrome, and more. Patients can ask their doctor or genetic counselor about what conditions are included in their test. It's also reasonable to expect an overview of the conditions because they can be very different. Babies with trisomy 13 and 18 often have serious medical and neurological issues, and only about 10% live past the first year. They can build meaningful relationships and make progress but have significantly delayed milestones and health issues. People with Down syndrome (Trisomy 21) typically have mild to moderate intellectual disabilities and some medical issues that can be treated with good health care. They usually become active members of their communities and live an average of 60 years. …

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