Apart from cases related to genetics, cytomegalovirus (CMV) infection is the leading cause of neonatal deafness. Performed within 48 hours after birth, the Guthrie test would be reliable and allow early treatment. This raises the question of a systematization of screening for CMV at birth.
- Cytomegalovirus is responsible for cases of neonatal deafness apart from genetic factors
- A study has just demonstrated the effectiveness of a test to detect it
- In France, the systematization of this screening is not envisaged by the health authorities
Cytomegalovirus (CMV) infection is the leading cause of congenital infection in France and is the leading non-genetic cause of neonatal deafness. Newborns may be asymptomatic but develop complications later, sometimes preventable by implementing early treatment. The question of universal screening then arises. In this context, American researchers have studied the sensitivity of screening for CMV by PCR using the Guthrie test, within 48 hours of birth.
The study published in JAMA included 12,554 newborns. Among them, 56 were diagnosed as CMV positive thanks to the reference test, on a urine sample, carried out when the saliva or blood sample was positive. Sensitivity for Guthrie test screening is 85.7%, specificity 100%, positive predictive value 98% and negative predictive value 99.9%.
A marked improvement in the sensitivity of the test
These results follow other studies already carried out on the subject, the reference of which is the CHIMES study published in 2010 in JAMA . This revealed a much lower sensitivity (34%) of screening via the Guthrie test compared to the saliva test. Improvements in DNA extraction and PCR techniques may explain this major improvement in sensitivity.
Parents adhere to screening
70% of the target parents gave their consent for the test, indicating good acceptability of it. This figure, consistent with other studies on the subject, suggests good adherence in the event of the implementation of generalized screening for all newborns.
Generalized screening for CMV: not immediately in France
In practice, the results of the study suggest that universal neonatal screening for CMV by the Guthrie test has good sensitivity and could be accepted by the population concerned. The non-invasive, low-cost and large-scale feasible technique therefore constitutes a potential option for neonatal screening for CMV if it were to be generalized. Currently in France, the HAS is considering extending neonatal screening to new diseases, but the CMV is not currently one of the elected officials.
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