NSC Antenatal and Newborn Screening Programmes

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NSC Antenatal and Newborn Screening Programmes

• Mrs Susan Fairgrieve

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UK National Screening Committee
DH Quarry House, Leeds
UK National Screening Committee DH Screening
Policy Team Programmes Director
Sir Muir Gray, Programmes Director
Fetal, Maternal and
Child Health Screening
Adult Screening
Cancer Screening Programmes
Downs Syndrome Screening
Thalassaemia and Sickle Cell Screening
Diabetes and Heart Disease
Diabetic Retinopathy
Fetal Anomaly Ultrasound screening
Infectious Diseases
Sickle Cell Thalassaemia Screening
Newborn Bloodspot Screening
Cystic Fibrosis Screening
Newborn Hearing Screening Programme
National Cervical Screening
National Breast Screening
Bowel Cancer Pilot
Prostate Cancer Risk Management
ORGANISATIONAL STRUCTURE of the UK NATIONAL
SCREENING COMMITTEE and its Programmes
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• Downs Syndrome Screening Programme
• All pregnant women are offered screening for
  Downs
• syndrome the methods used meet the current
  model of
• best practice of gt60 DR and lt5 FPR
• Four markers analysed at 15 18 weeks
  gestation
• AFP, Total hCG, uE3 and Inhibin A
• Women have access to rapid testing of amniotic
  fluid by
• QPCR FiSH with full karyotype
• Women booking for care in Newcastle are offered
  a
• Nuchal Translucency scan at 11-13 weeks

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Future for Downs Syndrome Screening

• By 2007 the model of best practice is a DR gt75
  with a
• FPR lt3 to reduce the need for diagnostic
  referrals.
• Regional strategy is Serum Integrated
• PAPP-A and Free ß hCG _at_ 9 13 weeks
• AFP, total hCG, uE3 and Inhibin A _at_ 15 18
  weeks
• Further information is available from
• www.screening.nhs.uk/downs/home.htm

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National Fetal Anomaly Ultrasound Screening
Programme

• All women should be offered two ultrasound scans
  during the pregnancy
• Early ultrasound scan for gestational
  assessment
• 1.7.1.1 Pregnant women should be offered an
  ultrasound scan to
• screen for structural anomalies, ideally
  between 18 and 20 weeks
• gestation, by an appropriately trained
  sonographer and with
• equipment of an appropriate standard as
  outlined by the National
• Screening Committee
• NICE Clinical Guideline 6. Antenatal Care -
  Routine
• Care for the healthy pregnant woman.
  October 2003.
• Further information is available from
• www.screening.nhs.uk/fetalanomaly.home.htm
  

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Infectious Diseases

• Further Information can be obtained from
• www. hpa.org.uk
• Training Resources can be accessed from
• www.screening.nhs.uk/cpd

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Rubella

• Rubella (German Measles), caused by the rubella
  virus, presents with a rash. Incubation period 14
  -21 days
• HPA RCOG recommend all rashes in pregnancy be
  investigated
• Screening in pregnancy is to identify women who
  require vaccination postpartum in order to
  prevent congenital rubella in subsequent
  pregnancies
• Congenital rubella can cause multiple problems
  including deafness, heart and eye defects
• In the first 8-10 weeks of pregnancy infection
  results in severe fetal damage in up to 90 of
  cases. After this period, risk of damage is lower
  and likely to involve hearing impairment. Rubella
  defects are rare after 16 weeks gestation.
• An antibody level of less than 10iu/ml is IgG
  negative (non immune)
• The MMR vaccine must be offered to IgG negative
  women postpartum. The woman should be advised not
  to conceive within one month of vaccination (can
  be given at the same time as Anti D but must be
  given in the opposite arm)

HPA- Health Protection Agency RCOG- Royal
College of Obstetricians Gynaecologists
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Syphilis

• Syphilis is a sexually transmitted infection,
  caused by the bacterium Treponema pallidum
• Screening in pregnancy is to identify women with
  an infection and offer treatment which will
  reduce the risks of the baby developing
  congenital syphilis
• If the pregnant woman has an untreated syphilis
  infection, the fetal loss rate is approximately
  50
• Babies that survive suffer considerable morbidity
  including naso-facial hypoplasia, blindness,
  deafness, bone abnormalities etc.
• Congenital syphilis is transmitted via the
  placenta
• The screening tests have an accuracy of over 99
• Positive or equivocal results require urgent
  referral to GUM, antibiotic treatment and
  discussion regarding the risks to the baby.
• GUM Genito-Urinary Medicine
• 
  
  

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HIV

• HIV is a retrovirus that attacks and destroys CD4
  cells, resulting in immune suppression that may
  lead to AIDS
• Screening in pregnancy for HIV is to identify
  women with the infection, offer early treatment
  and appropriate care to reduce mother to baby
  transmission
• HIV is transmitted through sexual contact,
  contact with contaminated blood products e.g.
  needle sharing, vertical transmission during
  pregnancy, delivery or breastfeeding
• The vertical transmission rate can be reduced
  from 25 to less than 2 with optimal management
  which includes anti retroviral therapy and
  appropriate obstetric and midwifery management
• A false negative may occur if a woman is tested
  in the window period between infection and
  sero-conversion
• There is a risk of acquiring HIV during pregnancy
  if a woman or her partner participates in high
  risk behaviour
• Confirmed positive results require specialist
  counselling, urgent referral to GUM
• GUM Genito-Urinary Medicine see test
  performance
  

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HSC 1999/183

• HSC 1999/183 (Reducing the mother to baby
  transmission of HIV)
• By January 2003
• All women to be offered and recommended an HIV
  test as part of antenatal care
• uptake of antenatal HIV testing of 90, and 80
  of HIV infected pregnant women to be identified
  and offered advice and treatment during antenatal
  care.

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Hepatitis B (HBV)

• HBV is an infectious disease of the liver caused
  by the HB virus resulting in both acute and
  chronic infection
• Screening in pregnancy for HBV is to identify
  women who are infected or carriers, as their
  babies will be at significant risk of contracting
  HBV
• A newborn programme of vaccination if completed
  is 95 effective. This involves an initial dose
  within 48 hours of birth, 2nd dose at one month,
  3rd dose at two months, 4th dose at 12 months
  (with a blood test to check immunity)
• Chronic infectivity may result in cirrhosis and
  carcinoma, about 20 of chronic HBV carriers die
  from liver failure
• HBV is transmitted through sexual contact,
  contaminated blood e.g. needle sharing or by
  vertical transmission
• The screening test identifies Hepatitis B surface
  antigen (HBsAg) and has an accuracy of 99.9
• The presence of Hepatitis B e antigen (HBeAg)
  indicates high infectivity
• Confirmed positive results require referral to
  gastroenterology and/or hepatology services.

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HSC 1998/127

• HSC 1998/127 (Screening of pregnant women for
  hepatitis B and immunisation of babies at risk)
• By April 2000
• all women were to be offered antenatal screening
  for hepatitis B
• all babies born to infected mothers to receive a
  complete course of immunisation starting at birth
  
• local monitoring and audit of the programme.

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Sickle Cell and ThalassaemiaNational Screening
Programmes

• A/N Screening in Newcastle, a high prevalence
  area commenced in June 2006
• A/N Screening in low prevalence areas will be
  commenced shortly
• Universal for thalassaemia
• Selective for haemoglobin variants using a family
  
• origin question to determine women in high
  risk groups
• Further information is available from
• http//www.kcl-phs.org.uk/haemscreening

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Newborn Bloodspot Screening

• Phenylketonuria
• Congenital Hypothyroidism
• Sickle Cell - commenced April 2005
• Cystic Fibrosis - due to commence November 2006
• Medium Chain Acyl Co A Dehydrogenase Deficiency
  (MCADD) Six Pilot sites not in the North East
• Further information is available from
• www.newbornscreening-bloodspot.org.uk

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Document pack
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Phenylketonuria

• 1 in 10,000 babies born in the UK
• Autosomal Recessive
• Inability to metabolise phenylalanine
• Untreated babies develop serious permanent mental
  disability
• Ongoing treatment, with a strictly controlled low
  protein diet, prevents disability
• Screen positive babies are seen by Dr Rylance
  (RVI), diet should be started by 21 days of age
• Lab informs GP and Dr Rylance

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Congenital Hypothyroidism (CHT)

• CHT affects 1 in 4,000 babies in the UK
• 2.31 girlsboys 90 sporadic
• Babies with this condition produce insufficient
  thyroxine
• Untreated babies develop a permanent physical and
  mental disability. Treatment can prevent
  disability
• Screen positive babies are seen by the named
  local paediatrician and treatment with Thyroxine
  should be started before 21 days of age
• Lab informs GP named local Paediatrician

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Sickle Cell Disorders

• Sickle Cell Disorders affect 1 in 2,500 babies in
  the UK
• Affected babies are treated with penicillin and
  Prevenar vaccine before 3 months of age
• Untreated babies are at high risk of death or
  complications from treatable infections or severe
  acute anaemia in the first few years of life
• Screen positive babies are seen by one of three
  regional haematologists
• Lab informs GP and Haematologist

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Newborn Screening Data for 2005 - 2006

• Total samples 32,758
• 2 Probable HbSS
• 1 Probable HbSC
• 1 Probable ß Thalassaemia Major
• 49 Probable carriers of HbS
• 9 Probable carriers of HbC
• 10 Probable carriers of HbD
• 23 Probable carriers of HbE
• 24 Probable carriers of other variants

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Cystic Fibrosis (CF)

• CF is an autosomal recessive genetic condition
  that affects 1 in 2,500 babies born in the UK
• Sticky mucus secretions cause digestive problems,
  recurrent chest infections leading to lung
  damage, poor growth and development. Survival is
  to mean age 31
• Screening enables early detection of
  presymptomatic babies
• Early treatment, including dietary supplements,
  medication and physiotherapy may improve health
• Affected babies are seen by a specialist and
  started on treatment by 30 days of age
• Screening can identify some carriers
• Lab will inform GP and CF Specialist

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Newborn Screening for CF Protocol
Day 5 blood spot samples IRT assay
10,000
50
IRT lt 99.5th centile
IRT gt99.5th centile
Note 0.25 CF infants will not be screened
(recognised following meconium ileus)
DNA analysis 4 mutations
Report CF not suspected
No mutation detected
Two CF mutations
One CF mutation
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6
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DNA analysis 29 or 31 panel
0.5
One CF mutation
5.5
IRTgt99.9th centile
Refer with presumptive diagnosis of CF
IRT on 2nd blood spot
IRT on 2nd blood spot
Yes
3.5
No
Av. lt Cut-off 2
Av. gt Cut-off 2
Av. gt Cut-off 2
Av. lt Cut-off 2
Report CF not suspected
Report CF not suspected
High likelihoodClinical referral
Low likelihood Advice, counseling
High likelihoodClinical referral
5
0.5
38
0.1
2.9
April 2005
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Medium Chain Acyl co-enzyme A Dehydrogenase
Deficiency (MCADD)

• MCADD is an autosomal recessive condition that
  affects 1 in 10,000 - 1 in 20,000 babies in
  the UK
• MCADD affects breakdown of fat and blocks energy
  production. This can result in drowsiness,
  lethargy, vomiting, seizures in some cases coma
  and death
• 20 25 mortality, 30 survivors with CNS
  sequelae at first clinical presentation
• Symptoms can occur quickly in infants who are not
  feeding well or are unwell with an intercurrent
  infection, e.g.diarrhoea vomiting
• Mean age of presentation 14 months
• Treatment is prevention of metabolic crisis
  avoid fasting. If unwell, give Glucose polymer
  IV Dextrose

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Newborn Hearing Screening Programme

• 1 in 1,000 babies have permanent deafness or
  hearing impairment significantly affecting
  language and social development
• 1 in 1,000 babies have a deafness that has some
  affect
• 900 babies born each year with bilateral
  permanent childhood hearing impairment (PCHI)
• All babies born in North East now offered newborn
  hearing screening
• Aim to identify 90 of children with bilateral,
  moderate to PCHI within 8 weeks, 100 by 24 weeks
  of age and begin agreed habilitative programme
  with family and child asap, as outcomes improve
  with early intervention
• Further information available from
• www.nhsp.info

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PEGASUS Professional Education for Genetic
Assessment and Screening

• PEGASUS is for three groups of health
  professionals
• Further information is available on our website
• www.pegasus.nhs.uk

Front-Line Professionals - those who routinely
see patients such as midwives and primary care
practitioners
Specialist Practitioners - those seeing at risk
couples
Public Health Professionals - those with public
health and commissioning functions
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Training Resources

• Downs Syndrome Screening Education and Training
  Pack
• Sickle Cell Thalassaemia Fast Track Training CD
• Resource Cards
• Timeline poster
• Updated text on GP Notebook to reflect the
  current screening programmes and terminology and
  added screening into the antenatal template of
  EMIS
• Online GP resource pack on A/N NB screening for
  GP trainers will be on our CPD website and GP
  notebook from the end of the year
• Training resources are available from
• www.screening.nhs.uk/cpd.htm

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Continuing Work

• National uniform patient information
• Development and review of standards
• Audit facilities to monitor QA mechanisms

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Regional Contact Details
Regional Antenatal Child Health Screening
Co-ordinator Mrs Kim Moonlight Tel [phone]
2422 Email kim.moonlight_at_dh.gsi.gov.uk Regional
Education Training Facilitator Mrs Susan
Fairgrieve Tel [phone] Email
susan.fairgrieve_at_dh.gsi.gov.uk