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Pregnancy & Newborn Screening Developments

Pregnancy & Newborn Screening Developments. What is screening?. Screening is:

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Pregnancy & Newborn Screening Developments

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  1. Pregnancy & Newborn Screening Developments

  2. What is screening? Screening is: “a public health service in which members of a defined population, who do not necessarily perceive they are at risk of, or are already affected by, a disease or its complications, are asked a question or offered a test to identify those individuals who are more likely to be helped than harmed by further tests or treatment to reduce the risk of disease or its complications.” (Second Report of the UK National Screening Committee)

  3. CEL 31 (2008) Changes to the pregnancy and newborn screening programmes • The replacement of the existing Pregnancy Screening Programme offered for Down’s Syndrome and other congenital anomalies • The introduction of haemoglobinopathy screening during pregnancy and sickle cell screening for newborn babies • The extension of the newborn blood spot screening programme to include screening for Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD).

  4. Implementation • CEL 31 – no later than 31st March 2011 • Newborn blood spot changes – 4th October 2010 • Pregnancy screening changes - 4th October – end February 2011

  5. National Services Division • to lead, co-ordinate and support NHS Boards in making the changes. Additional funding allocated for: • Implementation of the development required in the pregnancy screening laboratories. • Commissioning the Scottish newborn screening laboratory to introduce sickle cell and MCADD screening into the newborn bloodspot screening programme.

  6. First Trimester Screening for Down’s syndrome • Combination of 2 serum markers (PAPP-A, FßhCG) and NT measurement • 11+0 – 13+6 weeks gestation • Improved detection rate – 90% • Second trimester screening test available for women too late for 1st Trimester (Quadruple test)

  7. Antenatal Haemoglobinopathy Screening • No haemoglobinopathy is exclusive to any single ethnic group and all people are theoretically at risk • Importance of early testing – link to KCND key messages • Training required for haematology lab staff • Importance of FOQ • Need for further counselling and partner testing • Co-ordination of screening essential

  8. Family Origin Questionnaire FOQ • Categories may be used in paper format or electronically • Use is endorsed by NICE • Information from both the woman and the baby’s father are required

  9. Screening Tests from 4th Oct 2010: Phenylketonuria (PKU) -1965 Congenital Hypothyroidism (CHT) -1979 Cystic Fibrosis (CF) – 2003 Medium Chain Medium chain CoA Dehydrogenase Deficiency (MCADD) Sickle Cell Disorders (SCD)

  10. NEW CARD Use new card (BLUE) All old cards (PINK) must be destroyed or returned to the laboratory.

  11. Newborn Sickle Cell Screening Affects 1 in 2,500 babies in UK Inherited condition Causes pain, tissue damage, infection and even death Allows early diagnosis, improved outcomes through early treatment and care Need for pre-transfusion sample on admission to neonatal unit Carriers will be identified

  12. Linked Pregnancy & Newborn Programme • Vital for Scottish Newborn Screening Laboratory to know parents carrier status – therefore record on blood spot card • Testing babies born to at-risk couples • Important to know parents’ carrier status when dealing with newborn results

  13. MCADD Medium Chain Acyl-CoA Dehydrogenase Deficiency Caused by the lack of an enzyme (‘catalyst’) required to convert stored fat to energy Affects 1 in 10,000 babies born in the UK In Scotland screening should identify 5 – 10 cases a year

  14. Why screen for MCADD Early identification results in early treatment reducing risk of acute life threatening episodes Early detection of MCADD allows crisis/sudden death to be avoided Adherence to dietary management - normal life can be expected

  15. Revised Leaflets

  16. Useful Links • www.pnsd.scot.nhs.uk • Join the Pregnancy & Newborn Screening Network community • For further information on education & training contact Lucy Powls, Project Lead (Pregnancy & Newborn Screening) at lucy.powls@nhs.net

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