Newborn Scr creening- Presen and nd Future Dr Pratibha atibha Agarwal � Senior enior Consultant, � Department of of Child Development � KK Women’s and Chi hildren’s Hospital, Singapore
Outline: � What is NBS and what are are its aims � Criteria and content of NB BS � The Statistical Square � Components of NBS scree screening in Singapore � New Paradigms in NBS � Current issues and Conce cerns � Future
Definition of Screening • Strategy used in a population to ide identify an unrecognized disease in individuals without signs or symptom toms – can include individuals with pre-symptomatic or unrecognized s d symptomatic disease. • As such, screening tests are somew • As such, screening tests are somew ewhat unique in that they are ewhat unique in that they are performed on persons apparently in in good health • “ Identifying disease / condition befo efore it becomes a problem ”
What is Newbor born Screening (NBS • Essential Public Health Progr gram to screen newborn babies for: 1. Metabolic disorder 2. Genetic diseases 3. Blood diseases � Unselective screening of new ewborns shortly after birth � For a variety of serious tre s treatable disorders which are not evident on physical exam mination and � Which if undetected or un untreated will result in disease, disability or death � Early identification =>Earl arly Intervention => improved infant outcomes
Why do we do N o NBS: � Most babies with metabolic lic disorder, congenital hypothyroidism or hearing loss look “ normal al ” at birth � NBS helps to pick up ab above conditions before any clinical features are present � Early diagnosis facilitates ea early and effective interventions and prevents unwanted conseq sequences of untreated disorder � Individually these conditions ons are very rare but when they are clubbed together they are no not that uncommon
Disorder screened Implic lications if not Outcomes of screened screened sc & early intervention Congenital Severe me mental retardation Normal hypothyroidism G6PD deficiency Sev evere NNJ Normal Kernicterus Ke Seve vere anemia Phenylketonuria Severe me mental retardation Normal Galactosemia Death ath or cataract Active and normal Congenital adrenal Death Active and normal hyperplasia
Criteria For S r Screening Test – Wilson & Jungn gner’s Criteria (1968 � Condition sought should be an important health problem � Natural history of the conditio ition should be well understood � There should be a recogniza � There should be a recogniza nizable latent or early symptomatic nizable latent or early symptomatic stage � There should be an accep ccepted treatment for patients with recognized disease � Facilities for diagnosis and tr treatment should be available � There should be an agreed p policy on when to treat a patient
Criteria For S r Screening Test – Wilson & Jungn gner’s Criteria (1968 � There should be a suitable le test which should be acceptable to the population � Balanced cost-benefit ratio � Balanced cost-benefit ratio tio & the risks, both physical and tio & the risks, both physical and psychological, should be less ess than the benefits � Case funding should be a continuing process and not a “once and for all” project � Adequate health service pro rovision should be made for the extra clinical workload resulting fro from screening
Principles of N NBS: � Disorder has significant prevalence ce in the population � Disorder is asymptomatic at birth a h and only symptomatic when damage has occurred � Effective and early preventive treat eatment is available � Simple method for sample collectio tion � Reasonably simple, reproducible test with few false positive and false negativ results � Follow-up program for diagnosis an and treatment available � High benefit to cost ratio
Components of of NBS:
Components of of NBS:
- Screening Lab - Pediatrician - Follow up programs - Family Physicians - IT teams - Care Coordinators - Medical Subspecialists - Diagnostic Lab STATE PUBLIC HEALTH DEPARTMENT MEDICAL PROVIDERS CONSUMERS RESEARCHERS - Patients - Academic Centres - Patient's Family - Professional Societies - Patient's Caregiver - Communities - Advocacy Organisations
Public H ic Health FAMIL FAMIL MILIES MILIES Primary Care Speciality Physicians Physicians
Healthcare sp specialists needed fo for NBS: 1. Clinical and biochemical cal geneticists 2. Pediatric subspecialists 2. Pediatric subspecialists 3. Genetic counsellors 4. Metabolic dietitians 5. Audiologists / Otolaryngo gologists.
NBS – Parent ntal Education – The Bott ottom Line: � Offer newborn screening � Discuss the benefits � Discuss how the test is done � Discuss how the test is done one and that repeat sample is sometimes one and that repeat sample is sometimes required � Discuss the timing � Discuss the difference betw tween screening and diagnostic test � Discuss possible results � Answer questions / brochure ure
NBS - The e Process
The Statistic stical Square Disease State Sensitivity = A/(A+C) + - (TP/All those with disease) Test Results A B Specificity = D/(B+D) + True Positive False Positiv tive (TN/All those without disease) PPV = A/(A+B) (TP/(TP+FP) C D - False Negative True Negativ tive NPV = D/(C+D) (TN/(TN+FN)
Why minimise se False Negative or False Po Positive tests? � False negative tests � Increased False Positive with fewer false negative tests � increased cost of late � Cost of retesting � Cost of retesting treatment treatment � Loss of productive member � Cost of unnecessary treatment of society or iatrogenic injury � Emotional burden of living � Emotional burden and anxiety with preventable condition
NBS and the O Obstetrician � Surveys and focus groups of expec ectant parents demonstrate that women and their families would like to receive inform ormation about NBS during their PRENATAL care visits � BENEFITS: � BENEFITS: � Integrating NBS education into pre renatal care allows parents to be better prepared for their newborn undergoing scree eening and for receiving NBS test results. � Parents view their care from prena natal care thru pediatric care as a continuum of care without health care provider di distinction � HOW: � Written or website information along ong with other parent education materials
When was NBS BS initiated? � First started in 1960s in the USA to prevent mental retardation associated with p phenylketonuria � Expanded to developed and � Expanded to developed and d developing countries d developing countries � In 2008 – Newborn screen ening saves lives Act of 2007 (USA) – signed into law
Historical Persp rspective – Singapor 1965 •Mass newborn screening for G6PD PD deficiency 1981 •18-month pilot screening for cong ngenital hypothyroidism 1990 •Nationwide screening for congeni 1990 •Nationwide screening for congeni enital hypothyroidism enital hypothyroidism 1998 •Pilot newborn hearing screening u using transient evoked oto-acoustic emissions 2002 •Universal newborn hearing screen ening in (UNHS) in 3 hospitals: KKH, SGH & NUH 2003 •UHNS in private hospitals 2006 •Tandem mass spectrometry (TMS) S) for inborn errors of metabolism
Mass Newborn rn Screening in S’por � Timing of the screening test � Newborn physical examination � Cord blood screening • Cord blood screen- At birth • G6PD deficiency • Congenital hypothyroidism • Congenital hypothyroidism • Blood group � Hearing screen • Hearing screen- before discharge � Inborn errors of metabolism screen • IEM- 24 hours – 7 days of age � Oxygen saturation (SpO 2 ) screen • SpO2 screen – 24 – 48 hours of life
How to do NBS BS? � G6PD � Thyroid screening Cord bl blood � Hearing screening – (OAE & & ABBR)- � IEM – Tandem mass spectro ctrometry (TMS) � SpO2- Pulse oximeter � SpO2- Pulse oximeter Who can do it? it? � Physician � Midwife � Nurse � Medical technologist � Audiologist
When Are The he Results Available? � Cord G6PD screening - with ithin 24 hours � Cord thyroid (TSH/PT4) – w within 24 hours � Hearing screen – immediate � Hearing screen – immediate ately, 7-14 days ately, 7-14 days � SpO2 - Immediately � IEM - 7-14 days � A negative screen – results a ts are normal � A positive screen – further te r testing is needed
G6PD Congenital deficiency hypothyroidism Cord Bloo Cord Bloo lood Screening lood Screening Blood group
G6PD Deficien iency – Story in Spor � Common cause of sever vere neonatal hyperbilirubinaemia and kernicterus in the early 195 950s � March 1955 – 10 months � 96 infants with severe ha � 96 infants with severe ha haemolytic jaundice and anaemia haemolytic jaundice and anaemia � No blood group incompa patibility � 26 (27%) kernicteric � 81% of kernicteric babie bies died Wong HB, Arch Dis Child 1957 � 44% of kernicterus was seco secondary to G6PD deficiency � 60% of first week deaths w were due to kernicterus Wong HB, Neo eonatal hyperbilirubinaemia, Bulletin of KKH 1964
Bilirubin production and RBC membrane stabiliser Hemo molysis jaundice Kernicterus – disability or death Deposition in the basal ganglia
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