Download NHS Antenatal and Newborn Screening Programmes: Key

NHS Antenatal and Newborn
Screening Programmes:
Key Messages 2016/17
What is screening?
Screening is a process of identifying apparently healthy people who may be at
increased risk of a disease or condition. They can then be offered information,
further tests and appropriate treatment to reduce their risk and/or any
complications arising from the disease or condition.
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
What is screening?
• In the sieve diagram a group of people are offered, and accept, the
screening test. The screening test is represented by the sieve. Most people
pass through the sieve. This means they are at low risk of having the
condition which the test is screening for
• The people left in the sieve have been identified as being at higher risk of
having the condition the test is screening for. Further confirmatory diagnostic
tests may be needed
• At each stage of the screening process, people are free to make their own
choices concerning further tests, treatment, advice and support
• There will always be some false positive (incorrectly identifying someone as
being at high risk) and false negative (incorrectly identifying someone as
being at low risk) results from screening tests
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
NHS Antenatal and Newborn Screening
Programmes Infectious Diseases in Pregnancy
Sickle Cell and
Thalassaemia
Fetal Anomaly
CPD (cross-programme)
Newborn Hearing
Newborn and Infant
Physical Examination
Newborn Blood Spot
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Antenatal
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Antenatal
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2016/17
Regional QA Teams
https://www.gov.uk/topic/population-screeningprogrammes/screening-quality-assurance
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Informed Choice
Screening is a choice and it is important that
women and their families are given unbiased,
balanced information, in a timely manner and in a
format they can understand to help them make
that choice.
The decision to take up or decline the offer of
screening should be recorded.
Screening Tests for You and Your Baby leaflet is
just one booklet covering both antenatal and
newborn screening. Making it easier for the public
to compare the various tests and, crucially, to
understand that some decisions are more
complex than others.
https://www.gov.uk/government/collections/population-screeningprogrammes-leaflets-and-how-to-order-them
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Standards and service specifications
All commissioners and service providers should refer to the service specification,
supporting standards and handbooks to ensure a programme is set up correctly
and is meeting the standards set by the national screening programme.
• Section 7A Service Specifications to support commissioning and provision of
services
https://www.england.nhs.uk/commissioning/pub-hlth-res/
• Care pathways highlighting the key stages of the screening process
https://www.gov.uk/government/collections/nhs-population-screening-carepathways
• Programme Standards with variable metrics and measures and operational
handbooks and guidance
https://www.gov.uk/government/collections/nhs-population-screening-programmestandards
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ScreeningProgrammes:
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KeyMessages
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Sickle Cell and Thalassaemia
• offer all pregnant women screening for sickle cell and thalassaemia by 8-10
weeks of pregnancy
• observing policy for high or low prevalence, base screening on the family
origin questionnaire and blood test results
• if the pregnant woman is identified as, or known to be a carrier – offer
screening to the baby’s father as soon as possible
• if the pregnant woman and baby’s father are identified as carriers or affected
refer for counselling and offer prenatal diagnosis by 12+ 6 weeks of
pregnancy
• all babies are offered screening for sickle cell disease as part of newborn
blood spot screening
• testing can be carried out pre conceptually on request
https://www.gov.uk/topic/population-screening-programmes/sickle-cellthalassaemia
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Fetal Anomaly: Down’s Edwards`
and Patau`s syndromes
• All pregnant women in England should be offered a screening test for
Down`s, Edwards` and Patau`s syndromes that meets agreed national
standards
• The recommended screening strategy in the first trimester for Down`s,
Edwards` and Patau`s syndromes is the `Combined test`
• Optimum time for screening is when fetal crown rump length (CRL) is
between 45.0mm and 84.0mm, which equates to 11+2 and 14+1 weeks
• The recommended screening strategy for Down`s syndrome only for women
booking later in pregnancy or when it is not possible to measure the nuchal
translucency is the `Quadruple test` between 14+2 and 20+0 weeks
• The recommended screening strategy for Edwards` and Patau`s syndromes
for women booking later in pregnancy or when it is not possible to measure
the nuchal translucency is the fetal anomaly ultrasound scan undertaken
between 18+0 and 23+0 weeks
https://www.gov.uk/guidance/fetal-anomaly-screening-programmeoverview#screening-test-downs-edwards-and-pataus-syndromes
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Fetal Anomaly: 18+0 to 20+6 week fetal
anomaly ultrasound scan
• All pregnant women in England should be offered an ultrasound scan
between 18+0 to 20+6 weeks gestation to screen for fetal structural
abnormalities
• Fetal anomaly screening should be discussed as an option rather than an
inevitable aspect of routine antenatal care
• The purpose of the scan is to identify any problems in the structural
development of the baby
• Women should be made aware of the limitations of fetal anomaly screening
• All significant findings seen on the scan will be reported
• Effective professional teamwork is essential to support the woman and clear,
timely information about a suspected anomaly should be available
https://www.gov.uk/topic/population-screening-programmes/fetal-anomaly
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Infectious Diseases in Pregnancy
• screening for HIV, Hepatitis B, Syphilis should be offered and recommended
to all pregnant women early in pregnancy
• screening should be reoffered by 20 weeks for women who initially decline
one or more of the screening tests by a the Screening Team
• all women who are who are HIV, hepatitis B or syphilis screen positive, or
are already known positive for HIV and hepatitis B, should be seen by the
Screening Multidisciplinary Team for appropriate specialist care in line with
current programme standards
• Babies born to mothers with HIV and syphilis should be followed at birth in
line with clinical guidelines
• babies that are born to Hepatitis B positive mothers, should be vaccinated
(+/- immunoglobulin) within 24 hours of birth and referred for follow-on
vaccinations at 1, 2 and 12 months of age with a blood test for infectivity
status
https://www.gov.uk/topic/population-screening-programmes/infectiousdiseases-in-pregnancy
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Newborn Hearing
• 1 to 2 in 1000 babies in the UK are born with a permanent hearing loss or
deafness in one or both ears
• Around 1 in 100 babies who have spent at least 48 hours in a special care
baby unit, or a neonatal intensive care unit, have a hearing loss in one or
both ears
• 90% of babies with a hearing loss are born to families with no history of
deafness
• Early identification is very important for speech, language and social
development
• All babies born in England should be offered a hearing screen at 0-5 weeks
of age
• Babies referred from the programme should be seen for a full audiological
assessment within 4 weeks of screen completion
• GPs should be notified of screen referrals by letter
https://www.gov.uk/topic/population-screening-programmes/newborn-hearing
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Newborn and Infant Physical Examination
• Screening is offered in the newborn and infant periods : the first by 72 hours of
age, the second at 6-8 weeks
• Screening of eyes, heart, hips, and testes
• Examinations are performed by appropriately trained healthcare professionals
• Programme Standards and Programme Handbook were published April 2016
• Roll out of NIPE SMART continues (interoperability project started March
2016)
• Pulse Oximetry pilot in evaluation phase (UKNSC decision June 2016)
https://www.gov.uk/topic/population-screening-programmes/newborn-infantphysical-examination
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Newborn Blood Spot Screening
• The blood spot is taken on day 5 and in exceptional circumstances between day
5 and 8. The day of birth is counted as day 0
• The Programme screens for: sickle cell disease (SCD), cystic fibrosis (CF),
congenital hypothyroidism (CHT) and six inherited metabolic diseases (IMDs):
phenylketonuria (PKU), medium-chain acyl-CoA dehydrogenase deficiency
(MCADD), maple syrup urine disease (MSUD), isovaleric acidaemia (IVA),
glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine unresponsive)
(HCU)
• Good quality spots and all the fields on the card filled in are essential to avoid
repeats
• Screening is recommended but parents can decline screening for SCD, CF and
CHT individually but the six IMDs can only be declined as a group
• Babies found to be affected are referred for appropriate timely care
• Parents receive all results by six weeks
https://www.gov.uk/topic/population-screening-programmes/newborn-blood-spot
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Screening timeline
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Antenatal
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e-Learning
There is a suite of free, interactive and regularly-updated e-learning modules
for professionals involved in delivering screening services:
• Antenatal and Newborn Screening e-learning
• CPD Screening Incident Management Resource
• Fetal anomaly screening CEMT21 and Nuchal Translucency e-learning
• Infectious diseases in pregnancy e-learning
• Newborn and Infant Physical Examination e-learning
• Newborn blood spot expanded screening e-learning
• Newborn Hearing Screening e-Learning
• Sickle cell and thalassemia laboratory e-learning
cpd.screening.nhs.uk/elearning
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
Additional resources
http://cpd.screening.nhs.uk/
• Induction resource http://cpd.screening.nhs.uk/induction-resource
• Student Midwife Resource Pack
http://cpd.screening.nhs.uk/student-midwife-pack
• Resource cards http://cpd.screening.nhs.uk/resource-cards
• Animated timeline http://cpd.screening.nhs.uk/timeline
•
Screening master classes http://cpd.screening.nhs.uk/masterclasses
• Access all on-line learning here http://cpd.screening.nhs.uk/elearning
• Health Knowledge Screening Module
http://cpd.screening.nhs.uk/healthknowledge
• NICU/PICU resource http://cpd.screening.nhs.uk/nicu-resource
• Interactive blood spot card http://cpd.screening.nhs.uk/interactivecard.php
• Improving blood spot quality http://cpd.screening.nhs.uk/bloodspotelearning
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17
More information
• Population screening programmes
https://www.gov.uk/topic/population-screening-programmes
• Screening pathways
https://www.gov.uk/government/collections/nhs-population-screening-carepathways
• Screening and quality assurance
https://www.gov.uk/topic/population-screening-programmes/screeningquality-assurance
• Continuing Professional Development for screening
cpd.screening.nhs.uk
• Screening Helpdesk
[email protected]
• Screening blogs
https://phescreening.blog.gov.uk/
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Antenatal and Newborn Screening Programmes: Key Messages 2016/17