Newborn Screening
Congenital CMV affects one in every 200 babies born each year (approximately 20,000 children annually), making it the most common
congenital viral infection in the United States. Furthermore, one in every five children born with congenital CMV will develop permanent health problems (roughly 6,000 children) with as many as 400 infant deaths annually.
Congenital CMV infection is arguably the most common preventable neonatal cause of disability in the United States. More children will have
disabilities due to congenital CMV than other well-known infections and syndromes, including Down Syndrome, Fetal Alcohol Syndrome, Spina Bifida, and Pediatric HIV/AIDS.
Nearly 90% of infants born with congenital CMV appear healthy at birth, and the vast majority will not have any visible symptoms or long-term issues. Health problems or disabilities caused by congenital CMV infection can sometimes appear roughly two or more years after birth.
Infants and children who are infected with congenital CMV after birth rarely present with symptoms and will not be exposed to any permanent problems or disabilities.
Newborn Testing and Diagnosis
Presently in the United States, there is no standard of care or routine protocols regarding screening newborns for congenital cytomegalovirus at birth. If a baby presents as symptomatic, meaning the baby has obvious physical symptoms of being born with a potential viral infection, congenital CMV (cCMV) can be diagnosed by testing a newborn baby's saliva, urine, or blood using polymerase-chain-reaction (PCR) testing
. Ideally these specimens are collected for testing before twenty-one days of life in order to confirm a diagnosis of congenital CMV infection because after three weeks, it is hard to determine if the baby could have contracted the infection through nursing or by exposure to siblings or others who may be
shedding, or passing, the virus.
There are currently two tests approved by the US Food and Drug Administration (FDA) for screening babies with congenital CMV less than 21 days old. These are - the Alethia CMV Assay Test System - which detects CMV DNA from a saliva swab, and the Congenital CMV Simplexa by DiaSorin – which detects CMV DNA from a saliva swab or from urine. Results from the test are intended to be used in tandem with other diagnostic tests and clinical information to quickly identify the virus and help health care providers determine the best approach for the child.
If your baby is older than three weeks, families interested in obtaining their baby's dried blood spot (DBS) for testing should ask their physician to call the appropriate contact per this Newborn Blood Spot Screening list by state. More information is available by looking up your state on the Baby's First Test
website.
There are at least three Clinical Laboratory Improvement Amendments (CLIA) validated labs that can run DBS CMV PCR assays, including ARUP at the University of Utah, the University of Washington Virology Laboratory, and the University of Minnesota Center for Infectious Diseases and Microbiology Translational Research.
In June 2017, an informal, global group of stakeholders conferred on and published a consensus document which states that "consideration must be given to universal neonatal screening for cytomegalovirus to facilitate early detection and intervention for sensorineural hearing loss and developmental delay, where appropriate. The group agreed that education and prevention strategies for mothers were beneficial, and that recommendations will need continual updating as further data become available."
In the absence of established universal screening of newborns, hearing targeted early cytomegalovirus (HT-CMV) screening is taking off as an appropriate approach to determine whether CMV is the cause of a child's hearing loss. In July 2013, Utah became the first state to implement this screening approach in the United States. A CMV PCR or culture is performed whenever an infant fails his/her newborn hearing screen before 3 weeks of age.
If the testing for CMV is positive and if the child is later found to have hearing loss, this approach establishes a diagnosis for the hearing loss and avoids future uncertainty or other unnecessary testing (for example, genetic). A definitive diagnosis of congenital CMV may provide the family an opportunity for antiviral therapy and focused surveillance hearing testing since these children are typically at-risk for further hearing loss.
Since the
Utah mandate has been enacted, several other states or hospitals have considered or adopted most or portions of this approach.
If you learn that you became infected with CMV during your pregnancy, talk to your OB/GYN and your pediatrician about having your baby tested for congenital CMV. The testing is relatively quick, simple, and painless, and is covered under most insurance policies.