HDL(2001)34

 

Health Department



 



Dear Colleague

ANTENATAL SCREENING FOR DOWN'S SYNDROME AND NEONATAL SCREENING FOR PHENYLKETONURIA AND CONGENITAL HYPOTHYROIDISM

Summary

1. The National Screening Committee has recommended the introduction of a standardised, quality assured co-ordinated programme of antenatal screening services. In addition to screening for a number of communicable diseases (Hepatitis B, syphilis, rubella, HIV) the programme should provide for standardised screening for Down's Syndrome and neural tube defects (NTDs). They recommend that the delivery and co-ordination of this programme should be supported by an infrastructure of national, regional and local (Trust) co-ordinators. In addition, they have also recommended modernisation and development of the neonatal screening programme for PKU/Congenital Hypothyroidism to deliver a more standardised quality assured programme.

2. In Scotland, while Down's Syndrome and PKU/Congenital Hypothyroidism screening are already universally available, there is a need to improve and develop the service. The Scottish Screening Programmes' Central Co-ordinating Unit, which is part of the National Services Division, CSA, will be responsible for taking forward with the Service the appropriate improvements and developments as well as the co-ordination and monitoring of the Screening Programmes using quality standards recommended by the National Screening Committee.

Action

3. Health Board and Trust Chief Executives are asked to ensure that the contents of this letter and Annex are drawn to the attention of all appropriate managers and staff, including Consultants in Public Health Medicine, Consultants in obstetrics and gynaecology, Consultant Paediatricians, Consultant Clinical Geneticists, Heads of Midwifery Services/Senior Midwives, Directors of Laboratory Services and GPs.


12 April 2001

______________________________

Addresses

For action


Chief Executives, Health Boards
Chief Executives, NHS Trusts

For information

Chief Executive, CSA
Chief Executive, HEBS
Chief Executive Clinical Standards
Board
Directors of Public Health
Health Promotion Departments
PEACH Unit, Glasgow
Royal College of Midwives, Scottish
Branch
CP HVA
Royal College of Physicians
Royal College of Surgeons
National Board of Nursing,
Midwifery and Health Visitors

Enquiries to:

Mrs Fiona Neep
Health Improvement Strategy
Division - 3
Room 131
St Andrew's House
Edinburgh
EH1 3DG

Tel: 0131-244 2979
Fax: 0131-244 2372
E-mail: Fiona.Neep@scotland.gov.uk

_________________________

4. Health Boards and Trusts should work with the Scottish Screening Unit to ensure that the appropriate screening arrangements are in place by 1 April 2002 at the latest.

5. A copy of this guidance is available on the SHOW website: http://www.show.scot.nhs.uk/

Yours sincerely

 

 

GODFREY ROBSON
Director of Policy




ANNEX

ANTENATAL SCREENING FOR DOWN'S SYNDROME AND NEONATAL SCREENING FOR PHENYLKETONURIA (PKU) AND CONGENITAL HYPOTHYROIDISM

Background

1. The UK National Screening Committee (NSC) advises the UK Health Departments about the introduction of new population screening programmes, the modification or withdrawal of existing programmes and the quality and management of such programmes. The Committee has recently recommended the introduction of more organised screening for a wide range of antenatal/neonatal conditions including Down's Syndrome, and PKU/Congenital Hypothyroidism. Down's Syndrome is a congenital condition that is associated with moderate to severe learning disability and a spectrum of other health problems. The current birth prevalence is estimated to be 1.3/1.8 per 1,000 live births and increases with increasing maternal age. PKU and Congenital Hypothyroidism are inherited metabolical disorders, which, if left untreated, lead to significant learning disability in affected children. The Minister for Health and Community Care has accepted the Committee's recommendation to improve the organisation of Antenatal Screening for Down's Syndrome and neural tube defects and the screening of babies for PKU/Congenital Hypothyroidism and that the Screening Programmes should be implemented to agreed UK standards within appropriate management frameworks.

2. This guidance outlines the action proposed to organise screening for Down's Syndrome and neural tube defects and PKU/Congenital Hypothyroidism more effectively and for Health Boards to develop audit programmes to ensure the effective operation of the services and that relevant interventions or treatments are implemented quickly and effectively.

Down's Syndrome

3. As at present, all pregnant women should be offered serum screening for Down's Syndrome in the second trimester of pregnancy. This screening test aims to identify women who are at increased risk of having a baby with Down's Syndrome and who should be offered a definitive diagnostic test such as amniocentesis or chorionic villus sampling. These diagnostic tests are invasive procedures which can diagnose Down's Syndrome in pregnancy but carry a small risk of foetal loss. The purpose, benefits, and possible outcomes of such screening should be explained to women when the screening test is offered and, women/parents should be offered the opportunity to discuss the options available to them, should a positive diagnosis be made. One option which may be offered is termination of the pregnancy, however women may wish to proceed with the pregnancy in the full knowledge of the risks to the baby. This is a sensitive issue and women should be given comprehensive and unbiased information to enable them to make informed choices. Women have the right to choose whether or not to have the initial test, the diagnostic test and their preferred option if the screening diagnosis is positive on the clear understanding that they may opt out of the screening process at any stage.

4. While screening for Down's Syndrome is already offered to all pregnant women in all Health Board areas in Scotland, and there is a well organised and high quality service in place with a number of effective working arrangements in maternity units, there is however a lack of co-ordination across Scotland. There is also a need to improve training for midwives and other staff, audit and information flows between obstetric units, the laboratories, the women and primary care. To ensure a more effective screening process, the Scottish Screening Programmes' Central Co-ordinating Unit has been commissioned to co-ordinate and monitor the Down's Syndrome Screening Programme using quality standards which will be derived from those recommended by the National Screening Committee. In particular, the Central Co-ordinating Unit will be responsible for establishing and supporting the following infrastructure:

  • The development of standard national information returns in association with the Information and Statistics Division (ISD) which will allow the Programme to be monitored;

  • The introduction of a national laboratory information management system to be used in the 4 laboratories providing Down's Syndrome screening in Scotland. The system to be introduced will allow the 4 laboratories to be networked and for other antenatal screening programmes to be introduced as required;

  • The introduction of a core training scheme for staff involved in testing and supporting patients which will improve the information to women/parents. This will involve a central appointed lead trainer supported by local facilitators who will be appointed on a regional basis to cover the west, south-east, north and north-east Scotland;

  • The establishment by Health Boards and support of a quality assurance structure.

5. Health Boards and Trusts are required to appoint designated co-ordinators to ensure the delivery of effective screening services for Down's Syndrome and neural tube defects in their area. The co-ordinators will meet with the Central Co-ordinating Unit regularly to discuss the Programme and review monitoring data. They will also be called on to help to facilitate the implementation of an appropriate infra-structure to support a co-ordinated antenatal screening programme within their Health Board and to facilitate the implementation of further screening programmes in the antenatal period as further advice and recommendations come forward from the NSC.

PKU/Congenital Hypothyroidism

6. PKU and Congenital Hypothyroidism can be detected in the first few days of life by simple tests which can be done on dried blood spots (Guthrie Test). Early detection and treatment (dietary restriction in PKU and thyroid hormone replacement in CHT) can prevent severe intellectual impairment. While new born babies throughout the UK have been screened for PKU and Congenital Hypothyroidism for the last 20 years, there has been no quality standards or framework in place for the Service as a whole. The Scottish Screening Programmes' Central Co-ordinating Unit has been commissioned to co-ordinate and monitor the PKU/Congenital Hypothyroidism Screening Programme and will be responsible for establishing and supporting the appropriate infrastructure, including the introduction of a training scheme for staff involved in testing and supporting patients. The training scheme and infrastructure will be similar to that proposed for the Antenatal Screening Programme for Down's Syndrome. The Central Co-ordinating Unit will also be working with appropriate groups of healthcare workers to establish a managed clinical network to enhance the clinical care and follow-up of children in Scotland with inherited metabolic disease, most of whom will have been detected through the screening programme.

7. It is expected that the arrangements for the Screening Programmes will be implemented with effect from 1 April 2002.