Guidance

Antenatal screening

Updated 6 July 2018

Antenatal screening identifies women with a haemoglobinopathy and provides screening of consenting biological fathers. When both parents are carriers of a significant haemoglobinopathy, there is a 1 in 4 (25%) chance, in each pregnancy, that their baby could inherit a condition that needs treatment. The most important conditions are sickle cell disease and thalassaemia major.

Sickle cell disease and thalassaemia major are serious, inherited blood disorders. See e-learning programme for more information.

They affect haemoglobin and its oxygen carrying capacity. Individuals who have one of these conditions need treatment and lifelong care. People who are carriers are healthy and unaware of their status unless they have a specific blood test.

Carrier women and couples ‘at risk’ of having a baby with a major haemoglobin disorder need information, advice and counselling to make choices for the pregnancy. This includes the decision to have prenatal diagnosis, and to take further action if they choose to.

This means that screening must occur early in pregnancy, by 10 weeks’ gestation. This allows time for any subsequent actions required. Early screening usually results in a greater uptake of prenatal diagnosis (PND), which should ideally be performed by 12 weeks + 6 days gestation.

All components of the antenatal screening programme pathway need to be in place for screening to be effective. The stages in the pathway work most efficiently with coordination from a multidisciplinary team of professionals. These include:

• midwife, screening coordinator and maternity services
• laboratory team
• counselling services
• primary care
• voluntary sector

To ensure a quality service is delivered, there must be a named individual who has lead responsibility for each stage of the pathway. These stages are:

• identification of the eligible population
• providing information before screening and completion of the family origin questionnaire (FOQ), along with obtaining a blood sample
• processing the blood samples and reporting the results
• offer of testing to all biological fathers of babies where the mother has been identified with a haemoglobinopathy
• communicating the blood test results to mother and the baby’s father (where relevant)
• carrying out actions, such as PND, based on parental decisions
• diagnosis (where requested) of babies at risk of inheriting a major haemoglobin disorder
• referral of affected individuals for treatment and care

1. Prevalence

There are 2 approaches to the delivery of the screening programme based on the geographical prevalence of haemoglobinopathy conditions in the high risk populations living in England. A list of high and low prevalence trusts is available for further information.

In low prevalence trusts, where less than 1% of the booking bloods received by the laboratory are screen positive:

• the red blood cell indices will screen all women (irrespective of family origins) for thalassaemia
• the FOQ is used as an initial screening tool to identify women, or the baby’s biological father, at high risk of being a carrier for sickle cell, and other haemoglobin variants
• where either parent falls into a high risk group, a screening blood test for haemoglobin variants must be offered to the woman

In high prevalence trusts, where 2% or greater of the booking bloods received by the laboratory are screen positive:

• all women must be offered a screening blood test for sickle cell, thalassaemia and other haemoglobin variants, irrespective of family origins

Trusts that fall between the cut-off for high prevalence and low prevalence (between 1% and 2%) should continue to use their current antenatal screening algorithm and monitor their position annually.

In high and low prevalence trusts:

• where a woman is diagnosed with a haemoglobinopathy, the baby’s biological father (irrespective of family origins) must be offered screening for sickle cell, thalassaemia and other haemoglobin variants
• it is important to note that not all haemoglobinopathies will be diagnosed and where there is an inconclusive result, systems must be in place to follow up the woman/couple where relevant
• a completed paper or electronic FOQ must accompany all blood samples to the laboratory
• checks should be in place to ensure all women have been offered screening, and the results have been followed up appropriately

There are detailed algorithms for processing antenatal samples in both high and low prevalence areas, which are outlined in the laboratory handbook.

If there is a merger between a high prevalence and a low prevalence trust, the high prevalence screening policy must be adopted on both sites.

2. Booking for antenatal care

2.1 Choice and consent

All women must receive information about antenatal screening tests early in pregnancy, before they are asked to make any screening decision. This should include information on when results will be available following uptake of screening.

There must be an opportunity to discuss the screening options with a professional who is informed about the condition(s). The health professional offering the screening test must ensure the woman understands the test, has given her consent for antenatal screening and is aware of the choices that will follow if the test is positive.

When offering screening for sickle cell and thalassaemia, healthcare professionals must:

• give verbal and written information about the screening test, using the booklet Screening tests for you and your baby
• offer the woman an opportunity to discuss the screening test and her decision
• offer resources to address any specific needs that the woman has such as literacy, visual impairment, language needs
• be aware of, and sensitive to, the woman’s values and beliefs and support the woman to make decisions which are right for her
• record consent or non-consent for screening in the woman’s maternity notes
• communicate non-consent for screening to appropriate professionals, including laboratory staff
• establish whether or not couples are already aware of their screening status. Known ‘at risk’ couples should be fast tracked for timely PND

Women and the baby’s biological father (where relevant) must be offered screening for sickle cell and thalassaemia in every pregnancy, irrespective of their previous result. However, it is only necessary to offer screening once in the same pregnancy.

If a women is screened in a low prevalence area, but chooses to give birth in a maternity unit in a high prevalence area, her current result is sufficient, and there is no need for re-screening.

If the woman changes NHS provider during the pregnancy, it is not necessary to repeat the blood test if the result is available.

In both cases the previous result must be from a laboratory accredited by the UK Accreditation Service (UKAS) and be consistent, unequivocal, well documented and interpreted and reported within the testing algorithms in the laboratory handbook.

During booking for antenatal care it is important for healthcare professionals to gather information relevant to the sickle cell and thalassaemia screening programme. This includes questions about:

• adoption or a possible lack of awareness of family ancestry on the part of either parent
• fertility treatment:
  • donor egg
  • donor sperm
  • both donor egg and donor sperm
• current regular blood transfusions or history of blood transfusion (why, when, where and frequency)
• history of bone marrow or stem cell transplant (why, where and when)
• history of haemoglobin disorders or other inherited conditions (for either parent or in either of their families)

If the woman consents, it is best practice for the screening sample to be taken at the first booking appointment. All women need to be made aware that routine analysis of blood may reveal the possibility of thalassaemia carrier status.

If the woman declines screening for sickle cell and thalassaemia, the laboratory team should be aware of this information before processing the full blood count (FBC) sample. If the red blood cell indices reveal the possibility of thalassaemia, further investigations to confirm carrier status must not occur if the woman has not consented to screening.

In low prevalence areas, women who are low risk for haemoglobin variants can opt in for screening if they wish, as there may be family history information they have not disclosed at booking.

3. The family origin questionnaire (FOQ)

Although people from any population can have these conditions, individuals from some geographical areas of the world are more likely to be a genetic carrier based on their ancestry. The aim of the FOQ is to identify the population groups at highest risk of sickle cell, thalassaemia and other haemoglobin variants.

Completion of the FOQ information is the responsibility of the healthcare professional booking the woman for antenatal care. Details are required:

• for both the baby’s biological mother and father
• in both high and low prevalence areas
• to be completed in every pregnancy and sent with the blood sample to the laboratory, or be accessible to the laboratory team if using an electronic system
• for all ancestry, as far back as the individual can remember (at least 2 generations, but more if possible – this is particularly important for individuals with a mixed/multiple ethnic background)

In low prevalence areas the FOQ information is used as an initial screening tool which asks about the family origins of both parents, to assess a woman’s eligibility for haemoglobin variant screening. If the woman falls into a high risk group she should be offered screening for haemoglobin variants.

If the woman falls into a low risk group, but the baby’s biological father falls into a high risk group, then the woman should be offered screening for a haemoglobin variant (irrespective of her family origins).

In high and low prevalence areas the FOQ:

• must accompany all blood samples to the laboratory, or the relevant information must be accessible to the laboratory team if using electronic requesting
• can avoid unnecessary testing of fathers and unnecessary anxiety for parents when accurately completed
• is relevant in the interpretation of red blood cell indices, particularly when screening groups at high risk of alpha zero thalassaemia
• assists with accurate DNA analysis of prenatal diagnosis samples, ensuring that the relevant genotypes are included in the assay

If the woman declines screening, there must be systems in place to inform the laboratory team of this information prior to processing the FBC sample.

The NHS Sickle Cell and Thalassaemia (SCT) Screening Programme produces a paper FOQ form as a template. The integration of the FOQ categories onto local antenatal screening forms or incorporated into an electronic requesting system is encouraged. The versatility of the national template must be reflected locally, and the categories kept up to date if there are any changes.

The current FOQ form can be ordered from the national print provider.

4. Conditions and carrier states to be detected

There are more than 1,000 haemoglobin variants and thalassaemia mutations, but not all are clinically relevant. The national screening programme in England has determined the significant haemoglobinopathies which must be detected by antenatal screening. The rationale for choosing these carrier states and conditions is based on the high risk populations living in England.

4.1 Significant maternal haemoglobin conditions

These are important for maternal care and are:

• Sickle cell disease:

  • Hb SS (also called sickle cell anaemia)
  • Hb SC
  • Hb SD^Punjab
  • Hb SE
  • Hb SO^Arab
  • Hb S/Lepore
  • Hb S/β(0; +) thalassaemia
  • Hb S/δβ thalassaemia
• β thalassaemia major/intermedia
• Hb Lepore/β thalassaemia
• Hb E/β thalassaemia
• Hb H Disease (- -/-α)

4.2 Carrier states in mother

These are:

• sickle cell carrier (Hb AS)
• haemoglobin C carrier (Hb AC)
• haemoglobin D carrier (Hb AD^Punjab)
• haemoglobin E carrier (Hb AE)
• haemoglobin OArab carrier (Hb AO^Arab)
• haemoglobin Lepore carrier (Hb A/Lepore)
• β thalassaemia carrier Aβthalassaemia
• delta beta (δβ) thalassaemia carrier
• alpha zero (α⁰) thalassaemia carrier (- -/αα)
• hereditary persistence of fetal haemoglobin (HPFH) carrier

Other carrier states to be detected include any other compound heterozygous state that includes one or more of the above carrier states and any other homozygous state of the above carrier conditions.

5. Screening for haemoglobin variants

In low prevalence areas the information about both the woman and the baby’s biological father on the FOQ, along with her consent, determines which women must be screened for haemoglobin variants.

In high prevalence areas all consenting women are screened for haemoglobin variants irrespective of their family origins.

6. Screening for beta thalassaemia

All women in both high and low prevalence areas should be offered screening for thalassaemia.

The initial screen for the risk of thalassaemia involves a review of the full blood count:

• haemoglobin (Hb) – normal value in pregnancy is equal to, or above =>110g/l. Low values may indicate anaemia
• mean cell volume (MCV) – normal range is 77-95 fl. Low values may indicate deficient haemoglobin production such as iron deficiency anaemia or thalassaemia
• mean cell haemoglobin (MCH) – normal range is 27-32 pg. Low values are seen in thalassaemia or iron deficiency anaemia

If the MCH is lower than 27 pg, the Hb A₂ should be measured. An A₂ range between 3.5% and 8% is the usual for a beta thalassaemia carrier. Screening for beta thalassaemia can sometimes be complex and may require further investigations or DNA for definitive diagnosis.

7. Screening for alpha zero thalassaemia

There is no straightforward test in the antenatal screening laboratory to diagnose an alpha thalassaemia carrier, and DNA is required for a definitive diagnosis. The approved laboratories for DNA testing are listed in the laboratory handbook and at the end of this chapter.

Alpha⁺ (alpha plus) thalassaemia is not considered clinically significant, and a suspected carrier will not require any further investigations.

Alpha⁰ (alpha zero) thalassaemia is clinically significant and most commonly found in people with ancestry from:

• East Mediterranean (Cyprus, Greece, Sardinia or Turkey)
• Southeast Asia (China, Hong Kong, Thailand, Taiwan, Cambodia, Laos, Vietnam, Myanmar (previously Burma), Singapore, Indonesia or Philippines)

The screening policy in England aims to identify couples where both parents are alpha zero thalassaemia carriers (alpha⁰) and their baby is at risk of inheriting alpha thalassaemia major (Hb Bart’s Hydrops Fetalis).

If the woman’s initial screening result indicates that she may be an alpha zero thalassaemia carrier, but only one parent is from a high risk group and the other parent is not, then no further investigations are needed.

If the woman’s initial screening result indicates that she may be an alpha zero thalassaemia carrier, and both biological parents are from one of the high risk groups (see list above), then the baby’s father should be offered a screening test.

If both parental screening results show a possibility of alpha zero thalassaemia carrier status, then a blood sample from each parent must be sent for DNA analysis to confirm whether they are alpha zero thalassaemia carriers.

If both parents are carriers, then PND should be offered.

Only a small number of cases of alpha thalassaemia major occur in England each year.

8. Referral of antenatal samples to the DNA laboratories for haemoglobinopathy mutation analysis

Most carriers are diagnosed in the antenatal screening laboratory. However, on occasion it may be necessary to refer a sample for DNA analysis. See list of laboratories at the end of this chapter.

A local process must be in place to advise and inform the maternity or counselling team which samples need to be referred for molecular studies. A specific consent form for DNA analysis must be completed by the woman and/or the baby’s biological father if these investigations are required, and additional blood samples collected as needed.

9. Issues that may arise during routine antenatal screening

During screening some carriers may be missed and it is possible for false positive and false negative results to be reported. Assuming the FOQ has been completed accurately, carrier states can be missed because:

• some β-thalassaemia carriers may have:
  • a “silent” or “near silent” genotype, associated with a borderline Hb A₂ level
  • their carrier status obscured by severe iron deficiency anaemia; a medical condition (B12 or folate deficiency; liver disease); or treatment (such as HIV therapy); or another haemoglobinopathy
• alpha⁰ thalassaemia occurs outside the defined high risk family origins or in women with anaemia
• any significant haemoglobin is masked by an unreported blood transfusion or bone marrow transplant
• any significant haemoglobinopathy is present in donor egg or donor sperm where the donor is undeclared or untested
• a second haemoglobin variant may be masked by haemoglobin A or another haemoglobinopathy.

In low prevalence areas, in addition to the above, carrier states that occur in individuals who fall outside the defined high risk family origins, or in individuals who have not disclosed their family origins accurately, may be missed.

10. Testing in subsequent pregnancies

If a woman is booked for antenatal care for a subsequent pregnancy and accepts screening, the healthcare professional must:

• offer the woman screening for a haemoglobinopathy, irrespective of previous screening history
• complete the FOQ, or have systems in place to make the family origin information accessible to the laboratory team if using electronic test requesting
• take the blood sample and send to the laboratory

If a carrier or affected woman is identified, the baby’s biological father must be offered a screening test, irrespective of previous screening history. If it is not possible to test the baby’s biological father in every pregnancy and a previous result is being considered for use, please check that this is the same father. The previous result must be from a laboratory accredited by UKAS and be consistent, unequivocal, well documented and interpreted and reported within the testing algorithms in the laboratory handbook.

This information must be recorded in the woman’s notes for the current pregnancy. If a written copy of the result is available, this should also be included in the woman’s records. Guidance about collecting the biological father’s information has been provided by the Fatherhood Institute.

11. Screening results

Screening results must be reported within 3 working days following receipt of the blood sample in the laboratory. Every maternity unit must have a robust process for informing women of their result. If further investigations are required, an interim report will be provided by the laboratory until the final report is available. The midwife is expected to act on this interim report and initiate screening of the baby’s biological father, if he is available.

If nothing unusual is detected on the father’s result, then the risk of the baby inheriting a major haemoglobin disorder can be excluded.

If the baby’s biological father is unavailable for screening, a confirmed maternal result is required before PND can be offered. PND must not be performed based on preliminary screening results.

All women should be informed of their screening result (normal, carrier, inconclusive, haemoglobin disorder) and a local protocol and pathway must be in place to support this.

Women who have inconclusive, carrier or affected results must be offered an opportunity to receive the result in a face to face counselling session, in combination with the provision of written notification of the results.

An information leaflet on specific carrier status must be provided and information about the carrier result must be given in writing.

Screening results must be accessible to all healthcare professionals involved in the screening programme, and details should be recorded in the woman’s:

• handheld maternity records
• electronic maternity record
• primary care health record

The laboratory will report one of the following results:

11.1 No abnormality detected, Hb AA

Approximately 97% of women screened will have this result. No testing of the biological father is required.

11.2 Non-significant carrier

Not clinically significant and there is no risk of the baby inheriting a major haemoglobin disorder. No testing of the biological father is required.

11.3 Significant carrier

This is clinically significant and the baby may be at risk of inheriting a major haemoglobin disorder if both parents are carriers. Around 2.5% or 1 in 40 pregnant women will be identified as carriers. Testing of the biological father is required.

11.4 Benign haemoglobin disorder

This is, for example, Hb CC, Hb DD or Hb EE. The woman must be referred for a haematology consultation but often no special care during pregnancy is necessary.

Screening of the biological father is required, and the baby may be at higher risk (50% chance) of inheriting a haemoglobin disorder if the father is a carrier of a significant haemoglobinopathy.

11.5 Clinically significant disorder

This inlcudes sickle cell disease, for example Hb SC, or thalassaemia condition.

Most of these women are aware of their condition but on occasion this may be identified for the first time during antenatal screening.

Urgent referral to haematology and consultant obstetric teams is needed.

Joint medical and obstetric care and close monitoring throughout the pregnancy is necessary, and women should be booked for a hospital delivery.

Testing of the baby’s biological father is required. There is a higher risk (50% chance) of the baby inheriting a haemoglobin disorder if the biological father is a carrier of a significant haemoglobinopathy.

11.6 Inconclusive result

Further testing of the woman may be required depending on the variant suspected.

For these couples, the result should be explained to the woman and testing should be offered for the baby’s biological father.

If the baby’s biological father does not have a haemoglobinopathy there is no risk of the baby inheriting a major haemoglobin disorder. There may be no further maternal testing required (this is locally determined). However, if there is no further testing of the woman she will remain unaware of her specific carrier status and the risks for a future pregnancy if she changes partners.

If the baby’s biological father does have a haemoglobinopathy, then further maternal testing may be required for an accurate assessment of the fetal risk of inheriting a significant haemoglobin condition, and the couple need to be followed up appropriately.

See Appendix 5 for an example of a counselling form that can be used.

12. Screening follow-up for clinically significant results (carrier, affected, inconclusive, benign haemoglobin disorder)

Results must be communicated to the woman urgently. The mother needs time to organise screening for the baby’s biological father and to consider the implications for the pregnancy and her unborn child. Receiving a positive screening result can be emotionally traumatic for women, as this may not have been anticipated. A trained professional should be available to explain all significant results.

Timing is critical in making decisions for further investigations. Women should be given written confirmation of their result along with an explanatory leaflet. The woman must be invited for counselling (a template letter is available) and made aware of the:

• implications for her of being a carrier or having a haemoglobin condition
• implications for this and future pregnancies
• fact that the baby’s biological father needs to be tested to assess the risk to the baby
• the available choices for the pregnancy
• the fact that other members of her family could also be carriers and that they can request testing by their GP or at a specialist centre, especially if they are planning to have a baby

13. Beta thalassaemia carriers

A beta thalassaemia carrier has inherited an unusual beta globin gene from one parent and a normal gene from the other. Where an individual is a beta thalassaemia carrier it is important for them to be aware that:

• the unusual gene could be passed on to his or her children
• even if their child has inherited the gene it cannot be diagnosed at birth by routine newborn blood spot screening
• if parents choose, babies can be tested when they are over 9 months of age to confirm their carrier status

14. Screening the baby’s biological father

When organising and encouraging screening of the baby’s father, healthcare professionals should be sensitive to possible paternity issues, and clarify to the woman the importance of screening the baby’s biological father.

The baby’s biological father should be invited for counselling and a blood test as soon as possible in all cases where women are identified with a haemoglobinopathy or if there is an inconclusive result (irrespective of his family origins). The leaflet, Sickle cell and thalassaemia screening: information for fathers, and letter should be given to the father before screening. Fathers must be offered screening in every pregnancy as for mothers.

Where possible the couple should have a joint counselling session to discuss the woman’s results and the implications for the pregnancy, and for the father to be tested. The session must be with a professional trained in giving haemoglobinopathy information.

If a joint appointment is not possible, then the father must be offered an appointment on his own to discuss the screening results and to have a blood test.

The healthcare professional responsible for screening the baby’s biological father must provide the laboratory with information about the woman when the father is screened so that the results can be linked.

The fathers’ test result should be recorded in the mother’s antenatal handheld records and on the counselling records. The Fatherhood Institute has provided guidance about collecting the biological father’s information.

15. Maximising uptake of father testing

It may be difficult for biological fathers to attend for screening, or they may be reluctant to be screened.

Possible barriers to accessing screening include:

• an assumption by the man that he has already been tested and has a negative result, based on the fact that he may have had an unrelated blood test in the past
• a lack of understanding about the test, the significance of being a carrier, how the conditions are inherited and the risk to their baby
• a possible stigma attached to screening
• men who think that if they are well they cannot be a carrier
• pregnancy and blood tests being seen as part of the woman’s world, compounded by antenatal clinic systems
• difficulty with taking time off work to attend an appointment for a blood test
• fear of needles

Some men may have been previously screened, either in the UK or abroad, and do not recognise the need for re-screening. Healthcare professionals should explain that:

• we need to see a copy of the laboratory report with the man’s previous screening result
• previous screening may not include all variants tested for in the English screening programme
• screening test results need to be from an accredited laboratory
• their previous result needs to be confirmed when having PND

The healthcare professional who reviews the father’s previous screening results should document this in the woman’s record and, where possible, keep a copy of the result.

Points to consider include:

• timing – can screening be offered at a convenient time for the father, for example outside his normal working hours?
• location – can screening be offered at a more convenient or neutral location?
• socio-cultural barriers to uptake (listen to what the mother says)
• possible benefits of direct contact between the healthcare professional and the father to support the request for the need to have a blood test, and to highlight the importance of screening

15.1 Biological father unavailable for screening

If the baby’s biological father is unavailable, unknown or refuses testing then the healthcare professional should discuss with the woman:

• is she living with the father/in contact during this pregnancy?
• has the biological father been tested in the past and is there a confirmed result?
• is she willing (or able) to deliver the letter and leaflet to the father?
• if she is not living with the father and no longer in contact, can she provide his details so the information about the test can be sent to him directly?

The responsible healthcare professional should try to make direct contact with the baby’s biological father, with the woman’s consent, if the woman is unwilling or unable to make contact, in order to offer information and a screening blood test.

16. Follow-up after paternal screening

Results should be reported to the designated healthcare professional within 3 working days from the time of blood sample receipt in the laboratory. All father screening results must be reviewed and linked to the maternal results. Checks should be in place to ensure paternal results have been received and are followed up.

Fathers must be informed of their results, whether or not these are clinically significant. Carriers should receive the information in writing, along with an appropriate carrier leaflet where relevant.

17. Paternal carrier results (baby at risk of inheriting a benign haemoglobin disorder)

If the man is identified as a haemoglobinopathy carrier then the couple must be invited for a follow up counselling session and the results explained face to face.

If the couple are at risk of having a baby with a benign haemoglobin disorder which does not require long-term treatment (for example a condition such as Hb CC; Hb DD; Hb C/Beta thalassaemia) then this should be explained and the couple reassured. Confirmation in writing of his carrier status and an appropriate carrier leaflet should be given to the father.

Prenatal diagnosis is not required for any of these conditions.

18. Paternal carrier results (baby at risk of inheriting a major haemoglobin disorder)

Women and couples at risk of having an affected baby must be offered prenatal diagnosis (PND) as soon as possible, ideally by 12 weeks + 0 days gestation.

They should:

• be offered an urgent counselling appointment with an appropriately trained professional (for example a professional trained in an approved course such as the genetic risk assessment and counselling course) to explain the risk to their baby, details about the condition that their baby could inherit, and the options for the pregnancy. An explanatory leaflet^{[footnote 1] [footnote 2]} should be given to the couple to support the counselling session

• be urgently referred if they decide to proceed with PND

19. Considerations for the antenatal screening programme

The NHS SCT Screening Programme presents some challenges for practitioners.

19.1 Defining family origins, heritage and ancestry

Identifying family origins, heritage or ancestry is integral to screening for sickle cell and thalassaemia. It is important this is not confused with nationality.

The FOQ identifies the groups at highest risk of sickle cell, thalassaemia and other haemoglobin variants. This includes Mediterranean and other European populations who, under normal circumstances, may be ‘missed’ for screening. Practitioners need to help parents complete the FOQ for screening in low prevalence areas to ensure laboratories have the correct information for screening and analysis of results.

19.2 Influences of culture during screening

The perception of what carrier status means may affect families’ attitudes to screening. In some of the groups at highest risk of haemoglobinopathies, there may be religious or cultural beliefs that influence decisions about prenatal diagnosis and termination of pregnancy. Research confirms this and practitioners need to be aware of the relevant issues.

19.3 Linking the antenatal and newborn screening programmes

The genetic nature of sickle cell disease and thalassaemia major means that it is important to link information from parental results to the baby’s screening result. Local systems need to be in place to facilitate this.

20. DNA laboratory contact details

John Radcliffe Hospital Oxford

Molecular Haematology
Level 4
John Radcliffe Hospital
Headington
Oxford
OX3 9DU

Email hbopathy.screening@nhs.net; molhaem@ouh.nhs.uk; oxford.molecularhaem@nhs.net

Contact form http://www.oxford-tran...

Telephone 01865 572 769

Telephone 01865 572 826

Fax 01865 572 775

King’s College Hospital

C/O Central Specimen Reception
Blood Sciences Laboratories
Ground Floor Bessemer Wing
King's College Hospital
Denmark Hill
London
SE5 9RS

Email kch-tr.PND@nhs.net

Contact form http://www.viapath.co....

Telephone 020 3299 4337

Laboratory telephone 020 3299 9000 ext. 2265

Fax 020 3299 1035

University College London Hospitals NHS Foundation Trust

Haemoglobinopathy Genetics Centre
Molecular Genetics Laboratory
307 Euston Road
London
NW1 3AD

Email haemoglobinopathygenetics@nhs.net

Contact form https://www.uclh.nhs.u...

Telephone 020 344 79458

Fax 020 344 79864

Central Manchester University Hospitals NHS Foundation Trust

Directorate of Laboratory Medicine
Molecular Diagnostics Centre
Top floor, CADET and MDC Building
Oxford Road
Manchester
M13 9WL

Contact form http://www.cmft.nhs.uk...

Telephone 0161 276 5990

Telephone 0161 276 4809

Fax 0161 276 5989

PND referral form http://www.cmft.nhs.uk/info-for-health-professionals/laboratorymedicine/haematology/haemoglobinopathy

21. References

1. NHS SCT Screening Programme (2017) Information for couples at risk of having a baby with sickle cell disease or thalassaemia major ↩

2. CVS and amniocentesis: diagnostic tests ↩