Pregnancy Screening Pathway

1. Pregnancy Screening Pathway Dr Surindra Maharaj Consultant Obstetrician NHS Lanarkshire 16 June 2009

2. Antenatal Screening for Sickle Cell & Thalassaemia Pathway • Screening for Clinically Significant SCD • Hb S; Hb SC; HbS/β-thal; Hb SD; Hb SO; Hb S/HPFH • Screening for Other Haemoglobinopathies • Β-thal major/intermedia; Hb H; Hb E/β thal; Hb SE

3. Other • Clinically benign Haemoglobinopathies • HB C/β thal; Hb D/β thal; Hb DD; Hb CC; Hb CE; Hb DE; Hb EE • Several other variants will also be detected • There are >1,000 types/ Hb variants or mutations • Can be inherited in various combinations • Correct counselling is extremely important

4. Why are we Screening Now? • CEL 31 • The introduction of haemoglobinopathy screening both during pregnancy and for newborn babies • NHS Boards will be responsible for implementing the changes in maternity and child health services required to deliver these improvements no later than 31 March 2011

5. Who to screen? Universal Screening vs Selected Screening For Antenatal purposes, Scotland is considered as having a low prevalence for SCD (<1.5 /10,00 births with SCD) A targeted screening programme, based on the Family Origin Questionnaire is proposed

6. SWMHR Redesign • Trigger Recognition • Conveying this Information • to laboratory • Use of IT/PMS to aid • these concerns • Rule/Logic based Data • Entry • Easy Lab access to • information Means a change in how ethnicity data is collected and coded

7. When to screen • Antenatally • Before pregnancy • Pre-pregnancy counselling clinics • Assisted conception clinics • If screened before pregnancy, the results must be recorded and accessible for any subsequent pregnancy

8. Antenatal Pathway Unaffected Mother Affected Mother Carrier EXCLUDED INCLUDED Record in SWHMR

9. Included Aim to perform screening by 8-10 weeks Declines Record in SWHMR Consented Accepts TEAM: Obstetrician, Haematologist, Hb Counsellor, Midwife, Paediatrician

10. Patient Information Leaflet http://sct.screening.nhs.uk/

11. Paternal Testing Mother declines Father declines or unavailable Offer Counselling visit with Team Specialist to discuss risk Accepts Declines Paternal test taken Family Origin recorded Consent for result release Record in notes Inform Obstetric team Inform Paediatric team note: the father himself may have previous results available

12. Paternal Test Accepted Affected Father Urgent appt Counselling Inform GP/Paeds Unaffected Father Record in SWHMR Result to father/GP Consultant Haematologist Carrier Father Contact them to offer further Counselling

13. Counselling and Risk Discussion Declines Accepts Record in Notes Obs/Paed Notification Offer Prenatal Diagnosis If appropriate Declines Record in Notes Obs/Paed Notification Accepts Prenatal Diagnosis Clinical Genetics Aim to achieve this by 12+6 Weeks Results of Prenatal Diagnosis

14. Results of Prenatal Diagnosis Unaffected Fetus Record in SWHMR Result to parents/GP Affected Fetus Counselling Visit Options discussed Carrier Fetus Termination Termination Arranged Continuing Paediatric notification Neonatal Screen Record Screening Status on Birth Notification

16. Potential problem areas? • We need earlier information dissemination and earlier booking • The majority of women book between 11-14 • Major workforce implications • The issue of late bookers • We need for rapid testing, rapid reporting and rapid patient feedback • Small diagnostic and therapeutic window

17. Potential problem areas? • We need timely partner testing • We need timely reporting of PND • Glasgow and Oxford • Increased workload for midwives • Earlier bookings may mean more patients • Seeing women who would have miscarried had booking been later • KCND issues • Interpretation services

18. The Challenge for Antenatal Services • Staff Training and Awareness • Midwives • Obstetricians • Paediatricians • Haematologists • Identifying a Specialist Care Team • Assess the need/role for a Specialist Haemoglobinopathy Counsellor • The role of the screening coordinators

19. http://sct.screening.nhs.uk/

20. The Challenge for Antenatal Services • Reorganisation of antenatal services • Earlier booking required • Community awareness programmes • First contact • Pharmacies/Chemists • Midwives: Can the First Visit be abolished? • Telephone assessments • Royal Mail/IT/PMS/Remote Case Note Generation • GPs and GP receptionists • Information campaign

21. The Challenge for Antenatal Services • Reorganisation of antenatal services • Local laboratories and transport • Fast turnover and reporting is the goal • Report standardisation • Quality control and certification • Obtaining previous screening results • Central laboratories and communication • Glasgow • Oxford • Laboratory IT Links essential

22. The Challenge for Antenatal Services • Reorganisation of antenatal services • Who receives and gives the results to patients • The roles of: • Midwife • Hb Screening coordinator/practitioner • “Counsellor” • Timely referral to all of these HCPs • Expansion of clinical services • Clinics-antenatal and neonatal • PND/Genetics/Clerical support