AAP Voices Blog

Newborn screening for congenital cytomegalovirus: One pediatrician’s journey

She startled to loud noises at birth. In those early, foggy days after bringing our third daughter home from the hospital, I remember clearly how she would wake to her big sisters’ clamor. “Shhhh,” I would say, hushing my preschooler and my toddler as they ran around our cramped home. The fact that our baby was awakened by these noises comforted me, because only days earlier, she had tested negatively for hearing in a screening test. It’s probably just fluid in her ears, I remember thinking about the test result, vowing not to be anxious like so many mothers I’d counseled in the newborn nursery over the years. Ten weeks later when we went for her repeat hearing screen, she no longer startled. By that time, she was deaf.

My daughter, Odessa, like 1 in every 200 US infants was born with congenital cytomegalovirus (CMV). Approximately 20% of infants born with CMV will develop hearing loss in childhood. For some, like my daughter, it is present at birth and can be progressive, or so I suspect. Onset can be delayed for other children, most often before age 5. Congenital CMV often goes undiagnosed – most infants look healthy, with no outward signs. Turns out, those “blueberry muffin” babies, one of the few factoids I retained about congenital CMV from my training, are exceedingly rare. I held and gazed at my daughter for ten weeks, and never once did congenital CMV cross my mind. I cannot fault the clinicians cared for her in the newborn nursery for missing a diagnosis. There was nothing to pick up on, other than a hearing screen. This is why newborn congenital CMV screening is important.

Over the last four years, more states and hospital systems have implemented hearing-targeted newborn congenital CMV screening programs. These programs test infants who fail/refer their newborn hearing screen for congenital CMV, which usually involves a quick buccal swab. Knowing an infant has congenital CMV can allow for the early identification and treatment of hearing loss, guide an expedited work-up for additional sequelae (such as intracranial calcifications, as in my daughter’s case) and provide an opportunity for early intervention. Knowing an infant has congenital CMV also comes with the burden of coordinating follow-up care for providers and for families with the heaviness of being unsure if the child will be among the 70% of those with congenital CMV who have no long-term sequelae at all.

“For the approximately 10% of infants most severely affected by congenital CMV -- also known as “symptomatic” -- antiviral treatment may stop or slow hearing loss progression and improve developmental outcomes in the toddler years. But there’s a huge caveat – this treatment must be started within the first month of life for it to be effective.”

For the approximately 10% of infants most severely affected by congenital CMV -- also known as “symptomatic” -- antiviral treatment may stop or slow hearing loss progression and improve developmental outcomes in the toddler years. But there’s a huge caveat – this treatment must be started within the first month of life for it to be effective. That’s a pretty tight timeline to make a diagnosis, unless through newborn screening. To be frank, there aren’t enough studies to say whether antiviral medication improves outcomes into adulthood, or if it’s safe and effective for less severely affected infants. For the 10% of infants with congenital CMV who do qualify, timely antiviral treatment may make the difference between startling at 10 weeks versus not.

Each family’s experience is unique, and of course, my “n of 1” can’t be generalized, but I wish we had known about her diagnosis sooner, not just for antivirals, but for social support. I could also have used my maternity leave to start to practice American Sign Language, and to meet other d/Deaf people to learn about their experiences.

My daughter’s hearing loss has changed the lives of our whole family but not for the worse. It hasn’t all been rosy, but let’s face it, parenting never is. While I wish I could have prevented the in-utero infection that caused changes in her developing brain, I love Odessa as she is. Her hearing loss is a part of her identity. You may have heard the term “hearing loss,” but many in the community prefer the term “Deaf gain,” which describes the positive contributions of Deaf people to society. Our family is experiencing Deaf gain - we are learning American Sign Language, my daughter’s primary language, a beautiful multi-dimensional form of communication that is in many ways so much more complex than spoken English. Our family has also been fortunate to have been taken under the wing of several Deaf mentors, who have introduced us to their rich culture and history. I am proud that my daughter is now part of this community.

To clinicians caring for neonates and infants, I encourage you to screen for congenital CMV. I realize this is not a simple request. It requires an interdisciplinary team of clinicians from audiology, otolaryngology, ophthalmology, newborn nursery and primary care who are invested in piloting and refining processes for diagnosis, evaluation and management. Studies to date overwhelmingly show that parents want to know if their child has congenital CMV, even if they never develop symptoms. Rather than playing catch up if sequelae later develop, screening for congenital CMV gives us, as healthcare providers, the opportunity to empower and support families from the beginning. Today our family, backed by a team of educators, therapists and clinicians, feel equipped to follow Odessa, whose name means journey. She will take whatever path she chooses.