Pregnancy _ Newborn Screening Developments

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					Pregnancy & Newborn Screening
                          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)
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).

• CEL 31 – no later than 31st March 2011

• Newborn blood spot changes – 4th October 2010

• Pregnancy screening changes - 4th October – end
  February 2011
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
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)
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
• Training required for haematology lab staff
• Importance of FOQ
• Need for further counselling and partner testing
• Co-ordination of screening essential
Family Origin Questionnaire

              • Categories may be used in
                paper format or
              • Use is endorsed by NICE
              • Information from both the
                woman and the baby’s
                father are required
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)
                   NEW CARD
              Use new card (BLUE)
All old cards (PINK) must be destroyed or returned
                  to the laboratory.
Newborn Sickle Cell Screening

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

• 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
           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

• Adherence to dietary management - normal life can be
Revised Leaflets
Useful Links

• Join the Pregnancy & Newborn Screening Network
• For further information on education & training
  contact Lucy Powls, Project Lead (Pregnancy &
  Newborn Screening) at

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