Transcript PEGASUS: Professional Education for Genetic Assessment and

NSC Antenatal and
Newborn Screening
Programmes
Mrs Susan Fairgrieve
UK National Screening Committee
DH Quarry House,
Leeds
UK National Screening Committee
DH
Sir Muir Gray,
Programmes Director
Screening Policy Team
Programmes Director
Fetal, Maternal and
Infectious
Diseases
Sickle Cell &
Thalassaemia
Screening
Thalassaemia
and Sickle Cell
Screening
Newborn
Bloodspot
Screening
Down‘s
Syndrome
Screening
Child Health Screening
Fetal Anomaly
Ultrasound
screening
Cystic
Fibrosis
Screening
Newborn
Hearing
Screening
Programme
Adult Screening
Diabetes and
Heart
Disease
National
Cervical
Screening
ORGANISATIONAL STRUCTURE of the
UK NATIONAL SCREENING COMMITTEE and its Programmes
Cancer Screening
Programmes
Diabetic
Retinopathy
National
Breast
Screening
Bowel
Cancer
Pilot
Prostate Cancer
Risk
Management
Down’s Syndrome Screening
Programme
• All pregnant women are offered screening for Down’s
syndrome: the methods used meet the current model of
best practice of >60% DR and <5% 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
Future for Down’s Syndrome
Screening
•
By 2007 the model of best practice is a DR >75% with a
FPR <3% to reduce the need for diagnostic referrals.
•
Regional strategy is Serum Integrated
PAPP-A and Free β hCG @ 9 – 13 weeks
AFP, total hCG, uE3 and Inhibin A @ 15 – 18 weeks
Further information is available from
www.screening.nhs.uk/downs/home.htm
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
Infectious Diseases
Further Information can be obtained from:
www. hpa.org.uk
Training Resources can be accessed from:
www.screening.nhs.uk/cpd
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
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
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
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.
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.
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.
Sickle Cell and Thalassaemia
National 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
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
Document pack
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
Congenital Hypothyroidism (CHT)
• CHT affects 1 in 4,000 babies in the UK
• 2.3:1 girls:boys 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
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
Newborn Screening Data for 2005 - 2006
• Total samples 32,758
• 2 Probable HbSS
• 1 Probable HbSC
• 1 Probable β 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
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
Day 5 blood spot samples: IRT assay
10,000
50
IRT <
99.5th
centile
Newborn
Screening
for CF Protocol
IRT >99.5th centile
Note; 0.25 CF infants
will not be screened
(recognised following
meconium ileus)
DNA analysis – 4 mutations
Report: CF not
suspected
Two CF mutations
3
One CF mutation 6
No mutation detected
41
DNA analysis – 29 or 31 panel
0.5
One CF mutation
Refer with presumptive
diagnosis of CF
5.5
IRT on 2nd blood spot
3.5
IRT>99.9th centile
IRT on 2nd blood spot
Yes
No
Av. > Cut-off 2
Av. < Cut-off 2
‘High likelihood’
Clinical referral
‘Low likelihood’
Advice, counseling
0.5
5
Av. > Cut-off 2
Av. < Cut-off 2
Report: CF not
suspected
‘High likelihood’
Clinical referral
Report: CF not
suspected
38
0.1
2.9
April 2005
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
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
PEGASUS:
Professional Education for Genetic
Assessment and Screening
PEGASUS is for three groups of health professionals;
Front-Line
Professionals
Specialist
Practitioners
Public Health
Professionals
- those who routinely
see patients such as
midwives and primary
care practitioners
- those seeing ‘at risk’
couples
- those with public
health and
commissioning
functions
Further information is available on our website;
www.pegasus.nhs.uk
Training Resources
• Down’s 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
Continuing Work
• National uniform patient information
• Development and review of standards
• Audit facilities to monitor QA mechanisms
Regional Contact Details
Regional Antenatal & Child Health Screening
Co-ordinator:
Mrs Kim Moonlight
Tel: 0191 202 2422
Email: [email protected]
Regional Education & Training Facilitator:
Mrs Susan Fairgrieve
Tel: 0191 202 2422
Email: [email protected]