Population screening programmes – collection

Sickle cell and thalassaemia screening: commission and provide

These documents set out guidance for commissioning and offering sickle cell and thalassaemia screening.

Provide sickle cell and thalassaemia screening

These documents follow the screening pathway, supporting the activities at each stage of the process.

The handbook for sickle cell and thalassaemia screening sets out the actions for health professionals at each stage of the screening pathway.

The laboratory handbook sets out the actions for laboratories across the whole pathway.

The ‘Screening tests for you and your baby’ booklet explains the NHS antenatal and newborn screening programmes.

  1. Handbook for sickle cell and thalassaemia screening

    • 1 January 2012
    • Guidance
  2. Sickle cell and thalassaemia screening: handbook for laboratories

    • 1 October 2012
    • Guidance
  3. Screening tests for you and your baby: description in brief

    • 1 October 2014
    • Promotional material

Commission screening

Commissioners can use the service specification to create a consistent screening pathway.

  1. Commission care services: sickle cell and thalassaemia

    • 1 July 2011
    • Guidance

Antenatal screening

The screening pathway varies slightly depending on if the hospital trust is in a high or low prevalence area for sickle cell and thalassaemia.

Healthcare professionals can use the high and low prevalence trusts document to see which pathway to use.

The Family Origin Questionnaire (FOQ) assesses the likelihood of a person being a genetic carrier by looking at their ancestry and family origins. The form includes guidance for use in both high and low prevalence areas.

In rare cases, screening can find a woman with a previously unknown haemoglobin condition. The Map of Medicine sets out the procedures to refer her for clinical and obstetric management.

Where screening identifies the expectant woman as a carrier:

The next step for a healthcare professional is to offer the baby’s biological father a screening test using the template invitation letter and tests for dads leaflet.

Healthcare professionals may need to obtain the father’s contact details from the mother. The guidance on contacting men provides advice on this step.

If the father is not available or declines screening, offer the mother counselling and prenatal diagnosis. All professionals who offer counselling should have an in depth knowledge of haemoglobin disorders and the practical application of genetics in health care.

This includes prenatal diagnosis and genetic counselling.

If screening shows that the father is also a carrier, refer the couple for counselling and offer an explanation of prenatal diagnosis.

Give the couple the relevant booklet explaining the risk for their baby and the choices available:

  • risk of sickle cell

  • risk of thalassaemia

  1. NHS trusts: area prevalence for sickle cell and thalassaemia

    • 1 January 2012
    • Guidance
  2. Family origin questionnaire: sickle cell and thalassaemia screening

    • 1 February 2014
    • Form
  3. Template letter: sickle cell and thalassaemia screening for parents

    • 1 July 2013
    • Form
  4. Template letter: sickle cell and thalassaemia screening for fathers

    • 1 July 2013
    • Form
  5. Contacting men for sickle cell and thalassaemia screening

    • 1 January 2012
    • Guidance
  6. Tests for dads: sickle cell and thalassaemia screening

    • 1 January 2012
    • Guidance
  7. Baby at risk of having sickle cell disease: description in brief

    • 1 January 2014
    • Guidance
  8. Baby at risk of having thalassaemia: description in brief

    • 1 January 2014
    • Guidance
  9. Sickle cell and thalassaemia screening: inheritance risk table

    • 1 January 2013
    • Guidance

Prenatal diagnosis

Provide carrier couples with information about prenatal diagnosis (PND).

Healthcare professionals offering PND should follow the guidelines for referring PND samples to molecular haemoglobinopathy laboratories.

Where PND shows the baby has a haemoglobin disorder, refer the couple for counselling.

Follow guidance from newborn blood spot screening to link the antenatal PND result to newborn screening .

  1. CVS and amniocentesis: diagnostic tests

    • 1 April 2012
    • Guidance
  2. Amniocentesis diagnostic test: description in brief

    • 1 April 2012
    • Promotional material
  3. CVS diagnostic test: description in brief

    • 1 April 2012
    • Promotional material
  4. Sickle cell and thalassaemia screening: prenatal diagnosis guidelines

    • 1 May 2012
    • Guidance

Newborn screening

The Newborn Blood Spot screening programme sets out guidelines for offering SCT screening to newborn babies.

If the baby has received a blood transfusion before screening, follow the guidance set out in the DNA tests for transfused babies document.

If newborn screening shows the baby has sickle cell disease, follow the procedures in the Map of Medicine with the service specification to refer them into care services.

Where screening shows the baby is a carrier, use the guidelines for reporting newborn screening results to inform the parents.

Give the parents the relevant leaflet:

  • baby is sickle cell carrier

  • baby carries unusual haemoglobin

  1. Newborn blood spot screening: sampling guidelines

    • 1 February 2014
    • Guidance
  2. DNA tests for transfused babies: sickle cell and thalassaemia screening

    • 14 October 2010
    • Guidance
  3. Sickle cell disease: report screening results to parents

    • 1 April 2012
    • Guidance
  4. Baby carries a gene for sickle cell: description in brief

    • 1 January 2010
    • Promotional material
  5. Baby carries a gene for unusual haemoglobin: description in brief

    • 1 January 2010
    • Promotional material

Quality assurance

There is a national framework for all quality assurance processes across screening.

Within this framework, there are a number of specific activities that relate to SCT screening.

Standards

The standards for SCT screening document explains how to provide linked antenatal and newborn screening for sickle cell and thalassaemia. It also sets out the required standards to achieve and how they are monitored.

Managing incidents

There are national guidelines for reporting and managing incidents in NHS population screening.

Key performance indicators

There is a process across screening for setting and measuring Key Performance Indicators.

Failsafe

Each screening programme has specified failsafe mechanisms, to help identify people who are not screened, or whose samples are not processed correctly. These back-up mechanisms support routine screening.

If something goes wrong, the failsafe will identify the problem and specify an action to put it right and ensure a safe outcome.

The newborn outcomes project tracks babies identified with a haemoglobin condition into care services, to evaluate the linked antenatal and newborn screening programme.

  1. Standards for sickle cell and thalassaemia screening

    • 1 November 2011
    • Guidance
  2. Managing safety incidents in NHS screening programmes

    • 7 July 2015
    • Guidance
  3. NHS population screening: reporting data definitions

    • 1 July 2014
    • Guidance
  4. Sickle cell and thalassaemia screening: antenatal failsafe procedures

    • 1 May 2011
    • Guidance
  5. Newborn blood spot screening: failsafe procedures

    • 10 July 2015
    • Guidance
  6. Newborn outcomes project: definition and implementation

    • 4 June 2015
    • Detailed guide

Data collection

All screening providers need to record data about their activity. The national quality assurance programme provides guidance on the data to provide and ways to provide it.

Screening laboratories collect data to meet the set screening standards and use the data collection templates to submit the information to the screening programme.

Two forms are available for data collection for antenatal screening, to reflect different care pathways in high and low prevalence areas. Use the list of [trusts and their prevalence](/government/admin/publications/467741 to see the correct form to use.

The newborn laboratory data form is for collecting data from newborn blood spot screening.

Annual data reports

The annual data report evaluates the performance of screening each year. This document sets out the performance of:

  • antenatal SCT screening

  • newborn SCT screening

  • prenatal diagnosis testing for SCT

  1. Sickle cell and thalassaemia screening: laboratory data form

    • 1 March 2014
    • Form
  2. Newborn blood spot screening: data collection templates

    • 13 July 2015
    • Form
  3. Sickle cell and thalassaemia screening: data trends and performance analysis

    • 1 June 2014
    • Research and analysis
  4. Newborn outcomes project: data collection templates

    • 1 April 2015
    • Form

Equitable access

Everyone who is invited for screening should understand the test, what it is looking for, the results they may get and the choices that can arise.

The equitable access to screening document explains how national screening programmes can ensure everyone can reach screening services and benefit from them.

The SCT equality scheme provides programme-specific guidance.

The (SCT) screening programme runs a programme of public education and outreach to support at-risk populations. to inform people about the conditions and the screening offer.

Plan and run individual programmes with the community outreach good practice guide.

Reasons for implementing outreach programmes, and how they work, are described in the:

  • outreach overview

  • outreach resources

  • community outreach research

  1. Equitable access to screening: statutory duties under the Equality Act

    • 1 March 2013
    • Detailed guide
  2. Equitable access: sickle cell and thalassaemia screening

    • 1 November 2010
    • Guidance
  3. Sickle cell and thalassaemia screening: community outreach good practice

    • 23 February 2015
    • Detailed guide
  4. Sickle cell and thalassaemia screening: overview of community outreach

    • 23 February 2015
    • Case study
  5. Sickle cell and thalassaemia screening: examples of outreach resources

    • 23 February 2015
    • Guidance
  6. Sickle cell and thalassaemia screening: community outreach research

    • 1 February 2007
    • Research and analysis

Screening into care

People diagnosed with sickle cell or thalassaemia can expect care that meets national standards.

Care practices are different for adults and children and the standards documents set this out accordingly.

Healthcare professionals can use these documents to commission care and explain the procedures on how to live with sickle cell disease or thalassaemia.

The health services for people with haemoglobin disorders document sets out the quality standards for clinical care.

  1. Sickle cell disease: managing the condition

    • 1 January 2012
    • Promotional material
  2. Sickle cell disease: description in brief

    • 1 October 2011
    • Promotional material
  3. Beta thalassaemia major: description in brief

    • 1 January 2009
    • Promotional material
  4. Sickle cell disease in children: standards for clinical care

    • 1 October 2010
    • Guidance