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. 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 Antenatal and Newborn Screening Programmes: Key Messages 2016/17 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 and Infant Physical Examination Newborn Hearing Newborn Blood Spot Antenatal and Newborn Screening Programmes: Key Messages 2016/17 Antenatal and Newborn Screening Programmes: Key Messages 2016/17

Regional QA Teams https://www.gov.uk/topic/population-screening-programmes/screening-quality-assurance Antenatal and Newborn Screening Programmes: Key Messages 2016/17 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-screening-programmes-leaflets-and-how-to-order-them 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-care- pathways Programme Standards with variable metrics and measures and operational handbooks and guidance https://www.gov.uk/government/collections/nhs-population-screening-programme- standards 7 Antenatal and Newborn Screening Programmes: Key Messages 2016/17 Antenatal and Newborn Screening Programmes: Key Messages 2016/17

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-cell- thalassaemia Antenatal and Newborn Screening Programmes: Key Messages 2016/17 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 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-programme- overview#screening-test-downs-edwards-and-pataus-syndromes Antenatal and Newborn Screening Programmes: Key Messages 2016/17 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/infectious- diseases-in-pregnancy Antenatal and Newborn Screening Programmes: Key Messages 2016/17 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 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-infant- physical-examination Antenatal and Newborn Screening Programmes: Key Messages 2016/17

Newborn Blood Spot Screening 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) Screening is recommended but parents can decline screening for SCD, CF and CHT individually or the IMDs as a group The blood spot is taken on day 5 (day of birth is day 0) A healthcare professional must inform parents that blood spot cards are stored by the laboratory after screening. Stored cards have several potential uses, including research. Parents must be asked for their consent to future contact about research that could identify their baby Good quality spots and all the fields on the card filled in accurately are essential to avoid repeats      Babies with a suspected condition are referred for appropriate timely care Parents receive all results by six weeks (but suspected results much sooner) https://www.gov.uk/topic/population-screening-programmes/newborn-blood-spot Antenatal and Newborn Screening Programmes: Key Messages 2016/17

Screening timeline Antenatal and Newborn Screening Programmes: Key Messages 2016/17 Antenatal and Newborn Screening Programmes: Key Messages 2016/17

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 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/bloodspot- elearning 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-care- pathways Screening and quality assurance https://www.gov.uk/topic/population-screening-programmes/screening- quality-assurance Continuing Professional Development for screening cpd.screening.nhs.uk Screening Helpdesk phe.screeninghelpdesk@nhs.net Screening blogs https://phescreening.blog.gov.uk/ Antenatal and Newborn Screening Programmes: Key Messages 2016/17