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 coverage4. Enhanced tracking abilities5. 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 4conditions 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

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

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 http://www.nhsp.info/cms.php?folder=143

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 http://www.screening.nhs.uk/physical/index.htm

Newborn Physical

About UK Newborn Blood Spot Screening Programme:www.screening.nhs.uk/bloodspot

About Newborn Hearing Screening Programme:www.screening.nhs.uk/hearing

About the Newborn and 6-8 week Infant Physical Examinationswww.screening.nhs.uk/physical

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