Proof of principle testing for cytomegalovirus newborn screening.
Research type
Research Study
Full title
Proof of principle testing for newborn screening: Validation of a high sensitivity assay to detect congenital cytomegalovirus from dried blood spots of anonymised newborn infants (POP-CC).
IRAS ID
296570
Contact name
Stuart Adams
Contact email
Sponsor organisation
Great Ormond Street Hospital for Children NHS foundation Trust
Duration of Study in the UK
0 years, 11 months, 31 days
Research summary
Despite cytomegalovirus (CMV) being the international leading cause of congenital infection and associated neurodevelopmental impairment, there remain significant limitations in timely diagnosis and initiation of therapy, in part due to the absence of a universal screening programme for this condition.
It is estimated that 0.6-1% of babies born in the UK have congenital CMV, similar to and potentially greater than the number with better-known conditions such as Down syndrome or spina bifida. 10-15% of babies with congenital CMV have symptomatic disease at birth, however without a national screening programme it is estimated that only approximately 25% of these children are clinically diagnosed. Limitations to clinical diagnosis arise from the variable presentation of clinical signs and symptoms of the disease; signs that may be subtle or non-specific and potentially attributable to numerous other conditions. Of those initially asymptomatic babies, approximately 13.5% go on to develop long-term health problems including neurodevelopmental disability and behavioural conditions, hearing or vision impairment. Therefore without a universal screening programme approximately 1000 babies who may benefit from treatment may be missed each year.
In the UK dried blood spots are collected within a few days of birth on all babies and subsequent newborn screening is currently carried out for other diseases such as cystic fibrosis, hypothyroidism and rare metabolic disorders, but not for cytomegalovirus. This study proposes to validate a newborn screening assay developed to detect congenital CMV. Data from this study is likely to support the long-term objective to role out universal screening by demonstrating a suitable highly-sensitive and efficient assay to be used as the screening tool.
REC name
East Midlands - Nottingham 2 Research Ethics Committee
REC reference
21/EM/0241
Date of REC Opinion
24 Sep 2021
REC opinion
Favourable Opinion