On February 6, 2023, Minnesota became the first state to screen all newborns for congenital cytomegalovirus (cCMV), the most common infectious cause of pediatric disability in the United States. Most children born with cCMV are asymptomatic and have normal developmental outcomes, but up to 15 percent will have sensorineural hearing loss (SNHL). The need to monitor for SNHL is the driving force behind universal screening. This breakthrough in newborn screening was made possible by the passage of the “Vivian Act” in 2021, legislation driven by parental advocacy coupled with advances in biotechnology that made newborn dried blood spots sufficiently sensitive for newborn screening.
Since the advent of this newborn screening test, substantial numbers of infants with cCMV have already been identified. What is recommended if you, as a primary care pediatrician, receive a report from the Minnesota Department of Health (MDH) Newborn Screening Program that an infant’s cCMV screen is positive?
- At this time, it is recommended that the infant have a PCR test of urine to confirm the cCMV diagnosis.
- Evaluation should focus on the question of whether the infant has any signs or symptoms of cCMV. The history and physical exam are of great value. Was there a history of intrauterine growth retardation/SGA? Did the newborn demonstrate low birth weight, petechiae, microcephaly, hepatosplenomegaly, or other rashes? Did the baby “refer” on the newborn hearing screen? Does the baby have any neurological findings on the newborn physical exam that are abnormal?
- Additional studies to help define whether the infant has CMV disease (versus asymptomatic infection) are recommended, including a complete blood count (including differential leukocyte count and platelet count), hepatic function tests, a cranial ultrasound examination, and ophthalmologic evaluation. If there is any uncertainty about cranial ultrasound findings, it can be very useful to have the imaging study reviewed by a pediatric radiologist. In some cases, MRI imaging might be warranted. A diagnostic algorithm for confirmed cCMV cases can be found on the MDH Newborn Screening Program’s website at: https://www.health.state.mn.us/people/newbornscreening/program/cmv/followup.html
- A detailed audiologic assessment (preferably an auditory brainstem response, or ABR) is warranted in all cCMV cases: pediatricians should not just rely a routine newborn hearing screen at the time of newborn nursery discharge. This is important both to establish a baseline and establish a relationship with an audiologist for future follow-up. Ongoing care with an audiologist with specific pediatric training is preferred, when possible. As many as 75 percent of infants with eventual SNHL due to cCMV pass their newborn hearing screen and have normal hearing at birth.
- Not all infants with cCMV need to be referred to a pediatric infectious diseases (ID) specialist. As ID clinicians, we note that most evaluations are being appropriately handled by primary care pediatricians and family practitioners. We are available, however, for consultation with primary care physicians if there is uncertainty on interpretation of laboratory, imaging, or clinical findings, or to review and discuss any cases identified by the newborn screen.
- Consultation with a pediatric ID specialist can be particularly useful in making decisions about antiviral therapy. Antiviral therapy is of no proven benefit for infants with cCMV who are asymptomatic at birth. However, if an infant has signs or symptoms of cCMV disease, including abnormal ultrasonographic or laboratory studies, or an abnormal audiological evaluation, then discussion with an ID physician is recommended in considering the value of treatment.
- All infants with cCMV should have regular follow-up audiologic assessments. Guidelines for audiological monitoring recommendations can be downloaded at the MDH web page at: https://www.health.state.mn.us/diseases/cytomegalovirus/professionals.html
Pediatric ID providers at the Mayo Clinic, the University of Minnesota Medical School, Hennepin Health, and Children’s Minnesota are available to assist Minnesota pediatricians with questions and, as needed, referrals for cCMV. ID providers available for consultation are listed at: https://www.health.state.mn.us/people/newbornscreening/providers/bloodspotresources.html. Excellent educational resources on cCMV for primary care physicians are available at https://www.health.state.mn.us/people/newbornscreening/program/cmv/resources.html. Physicians can also utilize resources for parents, families and caregivers that are available for download at the MDH website at https://www.health.state.mn.us/diseases/cytomegalovirus/parentpkt.pdf