BY STEVEN M. EIDELMAN, STEPHANIE MEREDITH AND ROBERT A. SAUL, MD
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. Then, the impact of sex chromosome change can be so mild that it goes undetected. The accuracy of NIPS also changes for each condition.
Recent news stories in the Boston Globe highlighted that many expectant parents, and even providers, have misunderstood NIPS and mistakenly believe those tests to be as accurate as diagnostic tests (an amniocentesis or chorionic villus sampling/CVS). These new tests, known as non-invasive prenatal screening tests (NIPS or NIPT), cell-free DNA testing (cfDNA), or other specific brand names, are the most sensitive screening tests available and pose no health risk to the baby, but they are still not considered diagnostic. This means that these tests can occasionally miss a condition when it is present (false negatives) or can incorrectly show high chances for a condition (false positives). These tests can be helpful for parents who want a better idea whether their baby has a condition or not but don’t want to pose even a slight risk to the pregnancy. One mom explained, “I wanted to find out my chances so that I could prepare for the birth of a baby with a possible genetic issue, but I didn’t want to pose any risk to the pregnancy, especially after a couple of miscarriages. I knew it wasn’t 100% certain, but this was the best option for me to find out my chances without any health risk to the baby.” However, an amniocentesis or CVS is recommended by the professional medical organizations for those who want to be certain. Because these procedures are invasive, there is a risk, likely less than 1% for miscarriage. See lettercase.org/prenataltesting for more information.
If expectant parents do receive test results showing their baby has an increased chance for having a genetic condition or a confirmed diagnosis, it is vital for them to receive accurate, up-to-date, and balanced information and support right away. As one prominent genetic counselor said, “Support and information shouldn’t be a salt and pepper afterthought. It’s the most important part of what we do.”
Unfortunately, most parents say that they feel alone and isolated after receiving the test results. One pregnant woman described pulling over on the side of the road to cry alone after receiving her results over the phone. Another mother, Ginger Stickney, said, “We were very much alone, left to navigate a whole new world with no supports and no maps.” Research shows that what families want most is information that covers the spectrum of medical issues, family outcomes, photographs of people living with the condition, and available social services, and they also appreciate referrals to genetic counselors. Expectant parents often find local support organizations and parents raising children with the condition or disability to be particularly helpful. Medical guidelines also support the importance of this kind of support. One mother said, “Our genetic counselor connected us with the local parent to parent group which enabled us to make connections with others parents of children with Down syndrome. Our son and our connections have been a huge blessing to us.”
When parents do receive these resources and supports immediately after receiving a diagnosis, it can make a profound difference in their ability to cope and their understanding of life with a disability. At the National Center for Prenatal and Postnatal Resources, the following are offered: the Kennedy Foundation’s “Understanding a Down
Syndrome Diagnosis” booklet (lettercase.org) for expectant parents first learning about a diagnosis and “Diagnosis
to Delivery: A Pregnant Mother’s Guide to Down Syndrome” (downsyndromepregnancy.org) for expectant parents preparing for the birth of their baby with Down syndrome. Families have repeatedly told us that these resources are a “lifeline” during an emotionally vulnerable time. Anna Fulbright writes, “When I heard the news that my daughter had Down syndrome, I was only 13 weeks pregnant. My medical providers were hesitant to discuss anything about Down syndrome except potential medical complications. But thanks to information from Lettercase and downsyndromepregnancy.org, I found a source of strength and support. During those remaining six months I prepared for what I could and began to happily anticipate joining the Down syndrome community.” The American Academy of Pediatrics has a valuable resource healthychildren.org with reliable information resources about a range of conditions.
As prenatal testing moves forward, it’s critical that families receive what has been described in the Prenatally and Postnatally Diagnosed Conditions Awareness Act (also known as the Kennedy-Brownback Act of 2008) as “up-to-date, evidence-based, written information concerning the range of outcomes for individuals living with the
diagnosed condition, including physical, developmental, educational, and psychosocial outcomes.” Families need this information, not just for Down syndrome, but for the growing number of conditions included in these screens. So, if you find yourself in the position of being offered these tests, do not hesitate to ask more questions about the testing and also request comprehensive information about the conditions for which you are being tested so that you can receive the full range of support throughout your journey.•
ABOUT THE AUTHORS:
Steven M. Eidelman is the H. Rodney Sharp Professor of Human Services Policy and Leadership, Department of Human Development and Family Studies, College of Education and Human Development and Faculty Director, The National Leadership Consortium on Developmental Disabilities, University of Delaware.
Stephanie Meredith is Medical Outreach Director, University of Kentucky’s Human Development Institute.
Robert A. Saul, MD is Medical Director, General Pediatrics, Children’s Hospital, Greenville Health System, Clinical Professor, University of South Carolina School of Medicine – Greenville