NSC Antenatal and Newborn Screening Programmes Mrs Susan

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 h. CG, u. E 3 and Inhibin A • Women have access to rapid testing of amniotic fluid by QPCR & Fi. SH 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 h. CG @ 9 – 13 weeks AFP, total h. CG, u. E 3 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 10 iu/ml is Ig. G negative (non immune) • The MMR vaccine must be offered to Ig. G 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 CD 4 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 – Genito-Urinary Medicine * see test performance

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, 2 nd dose at one month, 3 rd dose at two months, 4 th 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 (HBs. Ag) and has an accuracy of 99. 9% • The presence of Hepatitis B e antigen (HBe. Ag) indicates high infectivity • Confirmed positive results require referral to gastroenterology and/or hepatology services.

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 Hb. SS • 1 Probable Hb. SC • 1 Probable β Thalassaemia Major • • • 49 Probable carriers of Hb. S 9 Probable carriers of Hb. C 10 Probable carriers of Hb. D 23 Probable carriers of Hb. E 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. 5 th centile Newborn Screening for CF Protocol IRT >99. 5 th 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 0. 5 One CF mutation 6 41 DNA analysis – 29 or 31 panel One CF mutation Refer with presumptive diagnosis of CF No mutation detected 5. 5 IRT on 2 nd blood spot 3. 5 IRT>99. 9 th centile Yes IRT on 2 nd blood spot 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: kim. moonlight@dh. gsi. gov. uk Regional Education & Training Facilitator: Mrs Susan Fairgrieve Tel: 0191 202 2422 Email: susan. fairgrieve@dh. gsi. gov. uk