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Pregnancy & Newborn Screening Developments. Screening for Sickle Cell and Thalassaemia. Aims & Objectives. Overview of sickle cell disorders and thalassaemia Pregnancy & Newborn Screening Use of the Family Origin Questionnaire Linked pregnancy & newborn programme.
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Pregnancy & Newborn Screening Developments Screening for Sickle Cell and Thalassaemia
Aims & Objectives • Overview of sickle cell disorders and thalassaemia • Pregnancy & Newborn Screening • Use of the Family Origin Questionnaire • Linked pregnancy & newborn programme
What is the most common recessively inherited disorder in the UK? Haemoglobin disorders (sickle cell & thalassaemia) 1 in 2380 Cystic Fibrosis 1 in 2500
Objectives of screening programme Pregnancy • To detect carriers of haemoglobinopathies • To identify ‘at risk’ couples • To offer informed choice Newborn • To identify babies with a major haemoglobin disorder and initiate early treatment to reduce mortality and morbidity Beneficial ‘By-product’ • To detect some babies with Beta-Thalassaemia Major • To detect carriers of sickle cell disorders
What are the haemoglobinopathies? • The Haemoglobinopathies are common inherited blood conditions, they mainly affect people who have originated from Africa, the Caribbean, the Middle East, Asia and the Mediterranean, but are also found in the northern European population • The most commonly recognised are the sickle disorders and the thalassaemias
The big picture: Where are sickle cell and related diseases most prevalent?
What are haemoglobinopathies? Genetic condition, autosomal recessive. More than 1000 disorders, categorised into two main groups: 1. Quantitative Disorders (Quantity) Αlpha & Beta Thalassaemia 2. Qualitative Disorders (Quality) Sickle Cell Disease
Sickle Cell Disorders & Thalassaemias • Potentially life-threatening conditions causing anaemia and other problems • Due to inheritance of haemoglobin gene variants that alter the structure or amount of haemoglobin – e.g. haemoglobin S, beta thalassaemia • Not all combinations of haemoglobin gene variants cause a disorder • Increased population mixing have led to these conditions being found in most populations
Sickle Cell Disorders What are they? Blood disorders which affect the structure of haemoglobin Sickle blood cell Image reference: http://www.utdallas.edu/research/ibmst/focusgroups/ Normal blood cell Image reference: http://www.biocrossroads.com
Sickle Cell Disorders • Who do they affect? • Can affect anyone from any population • More common in people of African, Caribbean, Middle Eastern, and Asian ancestry • How are individuals affected? • Red blood cells "sickle" when they are short of oxygen, causing anaemia, risk of life-threatening infections, unpredictable attacks of severe pain (crises), morbidity, mortality • How is the condition managed? • Information for family on risk factors – dehydration, heat, cold, infection, stress • Prophylactic antibiotics from early age • Regular clinic attendance • Specialist clinical care • Rapid access to medical help in emergency
Thalassaemias • What are they? • Blood disorders which affect the quantity of haemoglobin • Two types: alpha and beta • Beta thalassaemia causes most of the important clinical problems Beta thalassaemia blood film Image reference: http://www.bloodline.net/stories/storyReader$2344
Thalassaemias • Who does it affect? • Can affect anyone • Most common in people of Mediterranean, Middle Eastern, and Asian, Indian subcontinent and South east Asian ancestry • How are individuals affected? • Red blood cells contain little haemoglobin, causing anaemia • Beta thalassaemia major: severe anaemia requiring regular blood transfusions from about 9 months of age • Alpha thalassaemia major: severe anaemia in utero leading to stillbirth or neonatal death (hydropsfetalis) • How is the condition managed? • Monthly blood transfusions, and iron chelation therapy to remove excess iron (from transfused blood) for LIFE • Bone marrow transplant is feasible in 25-30% of cases
Thalassaemia Alpha Thalassaemia Major is a disorder of intrauterine life Beta Thalassaemia Major is a disorder of extra-uterine life
Family Origin Questionnaire Identifies women and their partners from groups with higher carrier frequencies for Hb disorders (non-North European origins) ALL women are offered screening for Thalassaemia Screening for Sickle Cell is performed based on FOQ risk group Family origins are important for other inherited conditions • e.g. Tay sachs disease
Family Origin Questionnaire (FOQ) The screening programme recommends the use of the Family Origin Questionnaire (FOQ) as part of the antenatal risk assessment, to determine which women should be offered screening for haemoglobin variants. This will also include offering screening to low risk women based on baby’s father being in a high risk group. Remember….. • ALL women will be offered screening for Thalassaemia regardless of risk. • In addition screening for sickle cell will be offered if there is a “tick in the shaded box” for her or baby’s father
Pregnancy Screening • Provide written information as soon as possible following confirmation of pregnancy (8-10 weeks) • Assess risk using the Family Origin Questionnaire (FOQ) for each woman • Send top copy to lab with blood sample for every woman • Obtain and document consent to take blood sample for screening test • Identify at-risk couples by 12 weeks of pregnancy • Inform the women of how and when she will receive her results
Couples ‘at risk’ Identified through: • Family Origin Questionnaire (Sickle cell & Thalassaemia) • Laboratory algorithm using blood indices results (Thalassaemia)
Completion of FOQ: Points to consider • Explore women’s and baby’s father family origins for as many generations as possible • If woman declines, explore reason why and document on FOQ • Send a copy to the lab with the request form. A second copy should be added to the woman’s maternity record. (A third copy can be added to the hospital records if applicable) • Form determines whether lab screens for Sickle Cell • ALL women screened for thalassaemia (unless declined)
Conditions Screened for: Antenatal (Carrier) • Hb-AS • Hb-AC • Hb-ADPunjab • Hb-AE • Hb-AOArab • Hb-A Lepore • thalassaemia trait • δ-thalassaemia trait • αothalassaemia trait • HPFH Newborn (Conditions) • HbSS • HbSC • HbSD • Hb-SDPunjab • HbS/ß thalassaemia • HbS OArab • HbS/HPFH • HbSE
Benefits of using FOQ Health professionals: • Integral part of the booking appointment • Assists the midwife in identifying women and their partners at increased risk of a haemoglobinopathy, in order to offer screening • Assists the laboratory with the interpretation of screening results – particularly with possible α or ßthalassaemia Women and their partners: • Assists in identifying their family origins • Facilitates informed choice • Aims to achieve the lowest possible mortality rates & to minimise morbidity from Sickle Cell disease in childhood
Consider Follow up Procedures • Who do the laboratory contact with the result? • Who, where and by what method is the women informed? • What information is given, written & verbal? • Who counsels the couple and screens the father of the baby and where is this undertaken? • How is the father given the results? • Who and where are an ‘at risk’ couple referred to? • Who and where undertakes diagnostic and DNA testing? • Who follows up diagnostic results and counsels the woman/couple?
Linked Pregnancy & Newborn Programme • Vital for Scottish Newborn Screening Laboratory to know parents carrier status – therefore record on bloodspot card • Testing babies born to at-risk couples • Important to know parents’ carrier status when dealing with newborn results • Important to remember that Beta Thalassaemia may not be detected from newborn bloodspot
Remember • No haemoglobinopathy is exclusive to any single ethnic group • All persons are theoretically at chance of carrying a haemoglobin mutation
Useful Links • For further information refer to: NHS Sickle Cell and Thalassaemia Screening Programme, Handbook for Laboratories, 2nd edition; NSC, September 2009 • http://sct.screening.nhs.uk/cms.php?folder=2493 • www.pnsd.scot.nhs.uk • PEGASUS (Professional Education for Genetic Assessment and Screening) www.pegasus.nhs.uk • ScotGEN www.scotgen.org.uk