CPI: Sickle cell disease: antenatal screening: post-test (two carriers)

A method to identify workforce development and education needs to support sickle cell disease pathways across the NHS Genomic Medicine Service

Sickle cell disease (SCD) is a serious inherited blood disorder that affects haemoglobin, the molecule in red blood cells responsible for carrying oxygen. A person is considered a carrier, having sickle cell trait, when they possess a pathogenic gene variant. While carriers neither experience symptoms nor have the disease themselves, if both biological parents are carriers, there is a 1-in-4 (25%) chance with each pregnancy that their child could inherit the condition.

Increasing awareness of genetic status empowers individuals to make informed decisions about family planning. The focus of this resource is not on the management of sickle cell itself, but on improving how people identified as carriers are supported over time.

The Clinical Pathway Initiative (CPI) provides a framework and resources to help healthcare professionals guide and inform discussions on genetics with individuals with sickle cell or the trait. The sickle cell pathways available are:

Preconception carrier screening
Antenatal screening:
- pre-test
- post-test (one carrier found)
- post-test (two carriers found)
Newborn screening and care

This is the Antenatal screening pathway: post-test where two carriers found. It has been developed to promote early identification, consistent national delivery and equitable communication of sickle cell screening during pregnancy. The pathway aims to support healthcare teams to deliver results sensitively, clearly and in a timely, culturally responsive manner.

This work sits within the Sickle Cell Genetic Counselling and Education Workstream under NHS England’s National Healthcare Inequalities Improvement Programme.

How to use this page

The antenatal pathway is broken down into three components (described below) comprising numbered key steps. Each step has associated competencies, each listed within a blue box, required for a healthcare professional to deliver safe and equitable care at every stage of the antenatal screening process, supported by clinical resources and national standards. Clicking a blue box will expand the competency to provide associated learning.

You can use this pathway to plan service delivery, identify and address workforce training needs, or to assess and develop your own knowledge, skills and behaviours to deliver a high-quality and culturally sensitive standard of care.

Components in this pathway

Pre-test: This component focuses on the early identification of carrier status during pregnancy or (ideally) before conception (see also Preconception carrier screening). It emphasises assessing risk, offering appropriate testing and providing clear information about the purpose and implications of screening.
Post-test where one carrier is identified: If the pregnant woman is found to be a carrier, this component outlines the process for: communicating this result, offering testing to the fetus’s biological father (where appropriate) and providing reassurance that the child is not at risk of SCD unless both of their biological parents are carriers.
Post-test where two carriers are found: When both of the fetus’s biological parents are carriers, this component offers guidance on reproductive options. These include prenatal diagnosis (such as chorionic villus sampling or amniocentesis), in vitro fertilisation (IVF) with preimplantation genetic diagnosis (PGD), or the use of donor gametes. Emotional support, follow up care and informed choice are prioritised throughout.

Resources to understand the SCD pathway

Below are some recommended resources which you can use to familiarise yourself with the SCD pathway.

e-Learning for Healthcare: NHS Screening Programmes
Gov.uk:
- NHS sickle cell and thalassaemia (SCT) screening programme
- Sickle cell and thalassaemia counselling knowledge and skills
Healthtalk: Communicating results
NICE:
- Pre-conception – advice and management
- Scenario: Genetic risk assessment
NHS England:
- Antenatal and newborn screening: identifying and reducing inequalities
- Antenatal screening: special circumstances
- Information and choices for women and couples at risk of having a baby with sickle cell disease
- Newborn blood spot screening: movers in with no available records (‘mover in’ is a baby who moved to England from outside the UK)
- Sickle cell and thalassaemia screening: learning from incidents
NHS Pregnancy: Planning your pregnancy (see: ‘Testing for sickle cell and thalassaemia’.)
Office for Health Improvement and Disparities: NHS population screening: access for all
Sickle Cell and Thalassaemia Support Project
UK National Screening Committee: Sickle cell and thalassaemia (English) (video, 1 minute)
UK Newborn Screening Laboratory Network

References:

Oteng-Ntim E, Pavord S, Howard R and others. ‘Management of sickle cell disease in pregnancy. A British Society for Haematology Guideline’. British Journal of Haematology 2021: volume 194, issue 6, pages 980–995. DOI: 10.1111/bjh.17671

Who developed this CPI project?

An initial draft of this project was developed by London North West University Healthcare NHS Trust haematology and research fellow Dr Rossby Awadzi.

Dr Awadzi was funded by NHS England to provide direction to the SCD clinical pathways review steering group regarding genetics education and training for sickle cell. This work involved:

introducing a unified approach to the integration of genomic medicine across different specialties in the mainstream setting;
identifying the workforce development and education needs;
harnessing and sharing expertise from around the country; and
providing a ‘bite-sized’ clinically relevant approach to genomic medicine.

The initial draft of the CPI project was shared with NHS England’s genetic counselling working group for review. Pertinent recommendations were incorporated into a subsequent revision.

The revised CPI project was presented, for final review and approval, to NHS England’s Genomics Education Programme Clinical Director Professor Kate Tatton-Brown.

As a part of this process, the following people contributed to the development of this CPI project:

Dr Kofi A Anie, Consultant Psychologist, London North West University Healthcare NHS Trust;
Leanne Barrett, registered genetic counsellor and founder of Geneticlea;
Elizabeth Olukoga, Community Haemoglobinopathy Specialist Nurse, London North West University Healthcare NHS Trust; and
Colette Scrace, Clinical Nurse Lead, NHS England’s Genomics Unit.

Additional support and thanks

Mrs Patricia Alfonso-Brown, Specialist Sickle Cell Community Nurse, London Northwest University Healthcare NHS Trust
Miss Faleasha Pink, student midwife, Northampton University
Ms Paula Sullivan, Specialist Haemoglobinopathy Midwife, London Northwest University Healthcare NHS Trust
NHS England genetic counselling working group
NHS England’s Genomics Education Programme
NHS England’s National Sickle Cell Disorder Healthcare Improvement Programme

Key

We have identified the type of competency in each of the drop-down boxes below:

G: General competency
P: Pathway-specific competency
St: Step-specific competency
K: Knowledge
S: Skills
A: Attitudes

STEP 1

Interpret the result

Competencies

A. Understands the significance of carrier status, inheritance patterns and its potential impact on offspring, emphasising the possibility of a child with SCD. (St, K)

Associated learning:

e-Learning for Healthcare: About the NHS Screening programmes
NHS England:
NHS Health A to Z: Carriers (sickle cell disease)
patient.info: Genetic counselling

B. Explains that the screening identifies carrier status and the chance of SCD in offspring, without diagnosing other conditions. (St, K)

Associated learning:

e-Learning for Healthcare: About the NHS Screening programmes
NHS England:
- Antenatal screening
- Sickle cell and thalassaemia: screening handbook

C. Explains the probabilities of having a child with SCD in each pregnancy as well as the chances that the child will be a carrier. (St, K)

Associated learning:

Antenatal Results & Choices: Tests explained
e-Learning for Healthcare: About the NHS Screening programmes
NHS England:
- Antenatal screening
- Sickle cell and thalassaemia: screening handbook
- Understanding haemoglobinopathies (see section 3, ‘Inheritance of haemoglobinopathies’)
NHS Health A to Z: Carriers (sickle cell disease)
patient.info: Genetic counselling

D. Considers the broader family history when discussing reproductive risks and future screening examinations. (St, K)

Associated learning:

Office for Health Improvement and Disparities: Culture, spirituality and religion: migrant health guide
patient.info: Genetic counselling

E. Uses clear and empathetic communication strategies to explain sickle cell trait inheritance chance and its implications. (St, S, A)

Associated learning:

Antenatal Results & Choices
e-Learning for Healthcare: About the NHS Screening programmes
patient.info: Genetic counselling

F. Prepares for immediate referral to genetic counselling services for further support and family planning discussions. (St, S)

Associated learning:

Antenatal Results & Choices: Tests explained
patient.info: Genetic counselling
NHS Health A to Z: Carriers (sickle cell disease)
Please refer to local protocols and guidelines

Workforce groups

Laboratory technicians, midwives, primary care nurses, specialist screening practitioners, sickle cell specialist nurses

STEP 2

Inform parent(s)

Competencies

A. Ensures a safe and private space for discussing the carrier screening results with the expectant parent(s). (St, S)

Associated learning:

Core training typically obtained as part of the professional skill set

B. Uses straightforward and empathetic language to explain genetic implications, including the chance of sickle cell trait and/or SCD in future generations. (St, S, A)

Associated learning:

Antenatal Results & Choices
e-Learning for Healthcare: About the NHS Screening programmes
NHS England: Antenatal screening
patient.info: Genetic counselling

C. Provides a written summary of the counselling session, including an explanation of sickle cell trait, inheritance patterns and the chances of future offspring having SCD or being carriers. (St, S)

Associated learning:

NHS England: Antenatal screening
patient.info: Genetic counselling

D. Explains all available reproductive options, with associated risks. (St, K)

Associated learning:

NHS England:

E. Answers all questions clearly and comprehensively. (St, S)

Associated learning:

Core training typically obtained as part of the professional skill set

F. Assesses and explains the benefits and limitations of available options to support informed decision-making in the current pregnancy. (St, K)

Associated learning:

NHS England:
- Antenatal screening
- Information and choices for women and couples at risk of having a baby with sickle cell disease

G. Documents results and the consultation accurately, ensuring that they are communicated to the other healthcare professionals involved in care. (P, S)

Associated learning:

Core training typically obtained as part of the professional skill set

H. Provides a clear follow-up plan, including timeframe, mechanism (such as telephone or face-to-face) and records appropriate contact information. (St, S)

Associated learning:

Antenatal Results & Choices
e-Learning for Healthcare: About the NHS Screening programmes
NHS England: Antenatal screening
patient.info: Genetic counselling

I. Provides information about support groups, relevant community services and tailored educational materials. (St, S)

Associated learning:

Antenatal Results & Choices
NHS West London Haemoglobinopathy Coordinating Centre: Sickle Cell traits and carriers
Sickle Cell Society: Screening for Sickle Cell and Thalassaemia

J. Ensures the individual fully understands their carrier status and the implications this has for future healthcare decisions. Obtains their consent for any further recommended actions or tests. (St, S, A)

Associated learning:

e-Learning for Healthcare: About the NHS Screening programmes
NHS Health A to Z: Genetic and genomic testing
patient.info: Genetic counselling

K. Discusses screening of future biological fathers ideally pre-conception or early pregnancy to assess risk. (St, K)

Associated learning:

NHS England:
- Sickle cell and thalassaemia: screening handbook (see section 14, ‘Screening the baby’s biological father’)
- Understanding haemoglobinopathies (see section 3, ‘Inheritance of haemoglobinopathies’)
NHS Health A to Z: Carriers (sickle cell disease)

Workforce groups

Midwives, primary care nurses, specialist screening practitioners, sickle cell specialist nurses

STEP 3

Management plan

Competencies

A. Documents results and consultations in the expectant parents’ medical records including maternity records. (St, S)

Associated learning:

Core training typically obtained as part of the professional skill set

B. Communicates a clear follow-up plan, outlining timeframes, method of contact (such as telephone or face-to-face), and provides contact details for further support or queries. (P, S)

Associated learning:

NHS England: Antenatal screening

C. Co-ordinates with primary care providers to ensure consistent and integrated healthcare management. (St, K)

Associated learning:

e-Learning for Healthcare: About the NHS Screening programmes
NHS England: Antenatal screening

D. Advises that standard care pathways for pregnancy and childbirth should be maintained. (St, K)

Associated learning:

National Institute for Health and Care Excellence: Antenatal care
NHS Pregnancy: Your antenatal care

E. Schedules follow-up sessions with the expectant parent(s) to review their situation, address any new concerns and adjust care plans. (St, S)

Associated learning:

Core training typically obtained as part of the professional skill set
e-Learning for Healthcare: About the NHS Screening programmes
patient.info: Genetic counselling
Please refer to local protocols and guidelines

F. Explains the options for prenatal testing and postnatal screening for SCD, ensuring the expectant parent(s) can make an informed decision. (St, S)

Associated learning:

NHS Baby: Newborn blood spot test
NHS England:
- Antenatal screening
- Information and choices for women and couples at risk of having a baby with sickle cell disease
- Newborn and infant physical examination (NIPE) screening programme handbook
- Sickle cell and thalassaemia: screening handbook (see section 14, ‘Screening the baby’s biological father’)
- Understanding haemoglobinopathies (see section 3, ‘Inheritance of haemoglobinopathies’)
NHS England’s Genomics Education Programme: GeNotes: Newborn blood spot screening
NHS Health A to Z: Carriers (sickle cell disease)

G. Confirms that the expectant parent(s) understand their reproductive risks and options, obtaining their consent for any available options or tests. (St, S, A)

Associated learning:

NHS England:
- Antenatal screening
- Information and choices for women and couples at risk of having a baby with sickle cell disease

Workforce groups

Midwives, primary care nurses, specialist screening practitioners, sickle cell specialist nurses

All steps

Fundamental principles relevant to all steps

Competencies

A. Maintains a thorough understanding of the genetic principles related to sickle cell trait and haemoglobinopathies in order to provide appropriate counselling. (G, K)

Associated learning:

e-Learning for Healthcare: About the NHS Screening programmes
NHS England: Understanding haemoglobinopathies (see section 3, ‘Inheritance of haemoglobinopathies’)
patient.info: Genetic counselling

B. Recognises and acts within professional boundaries, referring to specialists when needed. (G, A)

Associated learning:

e-Learning for Healthcare: About the NHS Screening programmes
NHS England:
- Understanding haemoglobinopathies (see section 3, ‘Inheritance of haemoglobinopathies’)
- Sickle cell and thalassaemia: screening handbook

C. Stays updated on developments in genomic testing and genetic counselling. (G, K)

Associated learning:

NHS England: Sickle cell and thalassaemia: screening handbook
patient.info: Genetic counselling

D. Works collaboratively with healthcare professionals for cohesive patient education and care. (P, S)

Associated learning:

Core training typically obtained as part of the professional skill set

E. Summarises available support systems for individuals undergoing genetic screening. Recognises the long-term implications that may arise from the carrier screening test. (St, K)

Associated learning:

Antenatal Results & Choices
e-Learning for Healthcare: About the NHS Screening programmes
patient.info: Genetic counselling

F. Follows best practices in documenting clinical interactions, test results and care plans. (P, S)

Associated learning:

Core training typically obtained as part of the professional skill set

G. Recognises and acknowledges the psychological, relationship and cultural issues related to a positive carrier result and can address them sensitively. (St, K, A)

Associated learning:

Antenatal Results & Choices
e-Learning for Healthcare: About the NHS Screening programmes
Office for Health Improvement and Disparities: Culture, spirituality and religion: migrant health guide
patient.info: Genetic counselling

H. Uses clear and empathetic communication techniques to ensure that the expectant parent(s) and their families understand the implications of genetic screening results. (St, S, A)

Associated learning:

Antenatal Results & Choices
e-Learning for Healthcare: About the NHS Screening programmes
NHS England’s Genomics Education Programme: Genomics 101: Talking Genomics
Office for Health Improvement and Disparities: Culture, spirituality and religion: migrant health guide
patient.info: Genetic counselling

Workforce groups

All roles and professions

Optional step

Long-term follow-up and education

Competencies

A. Reinforces understanding of sickle cell trait and haemoglobinopathy carrier status for future healthcare and family planning. (St, K)

Associated learning:

NHS England: Information and choices for women and couples at risk of having a baby with sickle cell disease
UpToDate: Sickle cell trait (subscription required)

B. Stays updated on, and (where appropriate) communicates to patients, new research and guidelines regarding sickle cell trait and SCD as it becomes available. (St, K)

Associated learning:

Sickle Cell Society: News Archives

UpToDate: Sickle cell trait (subscription required)

C. Assists the expectant parent(s) to discuss carrier status with family members and (where appropriate) future partners, who may be carriers themselves or at risk. Encourages carrier screening where appropriate. (St, K, S)

Associated learning:

Gov.uk: Sickle cell and thalassaemia screening: family origin questionnaire

NHS England: Information and choices for women and couples at risk of having a baby with sickle cell disease
UpToDate: Sickle cell trait (subscription required)
West London Haemoglobinopathy Coordinating Centres: Sickle Cell traits and carriers

D. Promotes relevant community programmes and education initiatives to raise awareness about sickle cell trait, genetic health and what support is available for affected families. (St, S, A)

Associated learning:

Sickle Cell Society

E. Reviews and updates parent care plans to reflect current knowledge and health status. (St, S)

Associated learning:

Please refer to local protocols and guidelines

F. As needed, provides access to mental health support and counselling services to address the emotional and psychological impact of being a carrier. (St, S, A)

Associated learning:

Sickle Cell Society

G. Encourages parents, where possible, to continue educating themselves about their carrier status and maintaining their general health. (St, S, A)

Associated learning:

NHS England: Information and choices for women and couples at risk of having a baby with sickle cell disease
West London Haemoglobinopathy Coordinating Centres: Sickle Cell traits and carriers

H. Establishes a plan for ongoing support and regular health check-ups, especially if the couple is planning a future pregnancy. (St, K)

Associated learning:

Core training typically obtained as part of the professional skill set

Workforce groups

Midwives, primary and secondary care physicians, primary and secondary care nurses, health visitors

CPI: Sickle cell disease: antenatal screening: post-test (two carriers)

A method to identify workforce development and education needs to support sickle cell disease pathways across the NHS Genomic Medicine Service

Components in this pathway

Key

STEP 1

Interpret the result

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 2

Inform parent(s)

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 3

Management plan

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

All steps

Fundamental principles relevant to all steps

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

Optional step

Long-term follow-up and education

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

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