August 2006 Newborn Screening Programmes

Introduction These slides bring you up to date with the three NSC Newborn Screening Programmes The Blood Spot Programme The Newborn Hearing Programme The Newborn and 6-8 week Infant Physical Examination Please refer back to the NSC GP resource for the ‘key messages’ from these programmes & for information relating to the antenatal screening programmes

The Blood Spot Programme National newborn screening based on the blood spot sample with the aim of preventing serious, but rare conditions, through early treatment before symptoms develop. The Newborn Blood Spot currently screens for:  Phenylketonuria (PKU)  Congenital Hypothyroidism (CHT)  Sickle cell disorders (SCD)* - linked to the antenatal screening programme  Cystic fibrosis (CF)*  Other conditions within regional programmes *screening in some areas - coverage increasing Blood Spot

Blood Spot National standards Processes measured: 1.Timely sample collection 2.Timely sample despatch 3.Completeness of coverage 4.Enhanced tracking abilities 5.Timely identification of babies for whom the laboratory has not received a decline notification or a blood sample 6.Timely processing of positive screening samples Blood Spot

Do parents have a choice?  Screening is strongly recommended  Parents can decline screening for all or any of the conditions  They should be given information to make their choice  All discussions and decisions should be recorded  A parental signature is not required Blood Spot

There is no cause for concern?  By the 6-8 week physical examination at the latest A baby is thought to be affected by one of the 4 conditions or a carrier of sickle cell disease or CF?  As quickly as possible  By a well-informed health professional  In person, or by phone & followed up in person as soon as possible  Supported by written information For affected babies with PKU, CHT or CF  With an appointment for diagnostic tests within 24 hours How should the results be given if: Blood Spot

Detailed information on the screened conditions are available to give to parents Parent Info Information for Parents Blood Spot

Newborn Hearing Screening Programme (NHSP)  Aim is to identify moderate, severe and profound bilateral deafness and hearing impairment in newborn babies  Programme offers all parents in England the opportunity to have their baby’s hearing tested shortly after birth  Similar programmes are in place in Scotland, Wales and N Ireland  Early diagnosis enables earlier intervention which can lead to better outcomes through; family support, communication support or specific technology based intervention such as hearing aids or cochlear implants Hearing

Why? The numbers in the UK Approx 900 children are born every year with a bilateral permanent childhood hearing impediment (PCHI) There are degrees of hearing loss:  Profound -25%  Severe -25%  Moderate -50%

The Newborn Hearing Screening Test  The programme tests babies’ hearing using an Automated Otoacoustic Emissions test (AOAE). The test takes a few minutes only and is painless and safe  A second test – the Automated Auditory Brainstem Response (AABR) test may be offered if the AOAE test does not show a strong response in one or both ears  Babies who do not show strong responses to either above tests are referred to the local audiology department for further tests  Previously, an Infant Distraction Test (IDT) was used and as a result half of the children with a permanent hearing loss were not identified until they were 18 months old and a quarter not identified by three and a half years of age.

Hearing Risk factors of Hearing Loss

 This six minute online video is designed for parents, or anyone requiring a short introduction to hearing screening, and gives information about why and how babies are screened. Online video Online video  A series of leaflets explaining the tests have been developed to support parents decide about screening and support information for parents of affected babies is also provided by the programme in partnership with the National Deaf Children’s Society. Available via Hearing Parent Information

Newborn and 6-8 week physical examination  Health For All Children (Hall, Elliman, 2003) recommends a physical examination is performed by 72 hours and again at 6-8 weeks  The aim of the newborn physical examination is to detect less obvious adverse conditions or abnormalities in a newborn child. Newborn Physical

The examination includes:  Taking a family history  Taking account of previous pregnancies & births  Taking an account of problems during the antenatal,  Perinatal and postnatal periods  Performing a physical examination of the baby  Listening to parental concerns Newborn Physical

Standards & Competencies Standards  A draft standards document is being drawn together using expert working groups Competencies  The subgroup recommends that any health professional undertaking the newborn and 6-8 week physical examinations should be competent to undertake the task and have sufficient ongoing clinical experience to maintain competency. To support this a competency document for all health professionals is being agreed Newborn Physical

Future Programme Activity Training Resources  A web based digital toolbox is being developed to support training for the newborn and 6-8 week examinations for all health professional groups Parent Information  This will be delivered as part of the programme of work Information systems  Outputs from the standards document will inform the information requirements These resources will be available via Newborn Physical

About UK Newborn Blood Spot Screening Programme: About Newborn Hearing Screening Programme: About the Newborn and 6-8 week Infant Physical Examinations More information…including national coverage Please refer back to the NSC GP resource for the ‘key messages’ from these programmes & for information relating to the antenatal screening programmes

Thank you