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Newborn screening

Newborn screening. Dr.Reeta Bora MD,DM(Neonatology) Astt. Professor of Neonatology Dept of Pediatrics Assam Medical College, Dibrugarh. Greetings from Assam Medical College, Dibrugarh. Introduction.

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Newborn screening

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  1. Newborn screening Dr.Reeta Bora MD,DM(Neonatology) Astt. Professor of Neonatology Dept of Pediatrics Assam Medical College, Dibrugarh

  2. Greetings from Assam Medical College, Dibrugarh

  3. Introduction • Screening: A brief assessment procedure designed to identify those who should receive more intensive diagnosis or assessment • An attractive approach to preventive medicine • Screening makes sense if– condition reasonably common, serious consequences occur if not intervened early, availability of early & effective intervention • If not used judiciously may damage health, resources • Considering present neonatal health status of Assam, high risk approach for neonatal screening rather than universal screening is perhaps a better approach.

  4. Topics to be discussed • Screening at risk newborn for • Neuro developmental disability • ROP & Visual distubances • Hearing • Screening for Inborn error of metabolism

  5. Neurodevelopmental screening • Aims at identifying those who need more comprehensive evaluation • Why routine screening? • Whom to screen? • Who are high risk Newborn? • Who should screen • What should be the property of screening tests • Screening tests • Follow up

  6. Why routine screening? Early & accurate detection of developmental problem is necessary as- • limited window of malleability of the developing brain-needs early identification and intervention • Early intervention leads to better social, adaptive & intellectual activity

  7. Whom to screen? • Ideally all infants time consuming, needs large no of trained person, not cost effective. • High risk infants

  8. Who are high risk Newborn? • Preterm <33 wk GA • BW<1500 gm • IVH/PVL • Asphyxia/Neurological problems • Persistent/recurrant hypoglycemia • Ventilated • Jaundice needing DVET • Complex medical course • Sepsis/meningitis • Multiple CMF/Genetic disorder

  9. Who should screen? Pediatrician • Skilled in use of screening techniques • Actively seek parental concern about development • Creates links with available resources in the community Multi disciplinary management needed • Neurological assessment • Developmental-intellectual assessment • Language • Hearing assessment • Visual assessment

  10. Properties of a screening test Best insrtument has • Adequate sensitivity • Adequate specificity • Adequate validity and reliability • Standardized on various population • Simple brief, convenient to use, cover all areas of development • Culturally sensitive

  11. Neurological assessment Commonly used method: • Amiel Tison’s: • Based on evaluation of active tone & passive tone • Done at 6wks,3m,6m,9m,12m of age. • Identifies tone anomalies for early intervention • Disadvantage: doesn’t assess mental development

  12. Neorodevelopment assessment Assessment of passive tone

  13. Assesssment of active tone

  14. Neurobehaviour assessment in newborn period • Brazelton’s neurobehavioral assessment scale Asses NB behavior on 28 items, scored on 9 point scale Elicits evidences of cortical control & responsiveness. • Neonatal Intensive care unit network neurobehavioral scale(NNNS) includes • Classical neurological items • Behavioral items • Stress/abstinence items

  15. Developmental screening test after newborn period • DDST Has 125well standardized easily administered test item Age range: 0-6 yrs sensitivity:0.13 -0.46 • TDSC Acceptable simple tool Does not need developmental kit Age range0-2yrs sensitivity 0.67, specificity0.79 • Baroda developmental screening test Has 22 motor & 32 mental items Easy to use Gives developmental qotient

  16. Screening for ROP and Visual problems • PREVELANCE BW <1250g 65% <1000g 80% • WHOM : < or = 32wk <1700gm prolonged oxy admn • WHEN : 4-6 wk postnatal age <28wk gestation at 32wk PCA

  17. International Classification of ROP • Four components • Location:progression of developing vessels, Zone 1,2,3 • Stage I to V • Plus disease :Tortuisity & dilataion of vessels • Extent : Compartments involved

  18. Different stages of ROP Stage I: Line of demarcation Stage II : Ridge Stage III :Ridge with extraretinal fibrovascular proliferation Stage V : complete retinal detachment Stage IV : Partial retinal detachment

  19. Treatment: cryo, laser

  20. ROP Screen -cont • If no ROP but retinal vascularization is incomplete re screen every 2 weeks till complete. • Mild ROP: Screen wkly • Monitor all treated till preschool years.

  21. Hearing screen • Robinette and White cite a number of prevalence studies of newborn hearing loss which report ranges from 1 per 1000 live births to 6 per 1000 live births. • Crucial speech and language development begins during the first six months after birth and is crucial to development of communication. Therefore, "early detection and intervention are critical

  22. Screening for hearing • 1896:Use of bell, whistle without child seeing source(Dr.Thomas Barr) • 1940:Same method remained in practice • 1960-70:Autonomic conditionable response • 1984: Crib o gram • 1990: BERA & OAE

  23. BERA • Potentials recorded from ear and vertex in response to brief auditory stimulation to assess the conduction through auditory pathway upto the midbrain.

  24. Normal Bera Waveform generators I VIII Nerve II Cochlear nucleus III Superior olivary N IV Lateral leminiscus V Inferior coliculi

  25. Normal BERA • Classic baep consists of 5-8 vertex positive peaks. • Initial 5 are of clinical interest. • Obligate BAEP waves are 1,3and 5. • 2,4,6,7 can be absent in some normal subjects, but absence of any obligate wave is abnormal.[most common wave to be absent is wave1].

  26. Abnormal BERA • Obligate wave absence. • Abnormal absolute or interpeak latencies. • Amplitude ratio abnormality. • Significant right to left assymetry[>0.5 ms difference is significant].

  27. RECORDING ELECTRODES Screening at 3-6 months more accurate as it excludes abnormalities due to perinatal conductive deafness Of neonates coming out of nicu 1-5 %will have sensorineural hearing loss[stockhord etal 1986].

  28. Clinical Use INDICATIONS; • Family history of hearing impairment • Downs syndrome • Prematurity with risk factors such as injuries, meningitis, kernicterus, asphyxia. • Encephelitis, hydrocephalus, • Children receiving ototoxic drugs • Children with intellectual impairment • Children with chronic middle ear disease • Screening of neonates coming out of nicu.

  29. NEONATAL NEUROLOGICAL DISEASE AND PROBABLE REGION OF INVOLVEMENT

  30. Otoacoustic emissions • Sounds which arise in the ear canal when (paradoxically) the TM receives vibrations transmitted backwards through the middle ear from the cochlea • First measurement reported in 1978 by David Kemp from the Institute for Laryngology and Otology

  31. Sensitivity Specificity Auditory Brainstem Response (ABR) 97%-100% 86%-96% Evoked Otoacoustic Emissions (EOAE) 84% 92% OAE vs BERA • More easy to perform • Rapid 2-10 min vs 1.5 hr for ABR • Less expensive Sensitivity and Specificity of Two Main Forms of Newborn Hearing Testing (HEALTH TECHNOLOGY ADVISORY COMMITTEE)

  32. Flow chart for infant with hearing loss Failed screen(BERA,OAE) Repeat after 1 m Diminished hearing Diminished hearing Normal hearing Mod sev to profound deafness Mild/moderate deafness h.Aid speech therapy H aid/speech therapy H aid/speech therapy Rpt test 3monthly-exclude progessive hearing loss Aided audiometry &h.aid Inadequate help Adequate help-contn rehab Cochlear implant

  33. Screening for Inborn Error of metabolism,endocrinopathies • IEM –Inherited disorders due metabolic block because of deficiency of enzyme. • Not uncommon –needs consideration in d/d of sick NB • Early detection has potential for Ry & prevention of death • Incidence :1/5000 live

  34. Indian studies SGRH, Delhi total 393 cases screened 6.7% had IEM Radha Ram et al,IJP,Feb2004 Cong hypothyroidism-1:1700 CAH -1:2575 phenylketonuria:-1:18300 I

  35. Approach to IEM • Universal • At risk- • History of acute deterioration after a period of normalcy • Family h/o consanguinity • Progressive illness- cerebral signs • Unusual odor

  36. What happens? A--------B-----/----C Metabolic pathway D----------E Absence of product C Accumulation of alternate product D or clinical features Accumulation of substrates A Or intermediates B E.g.: • Accumulation of substrates : storage disorders,Urea cycle defectsOrganic aciduria • Accumulation of intermediate metabolite: Galactosemia Fructosemia Tyrosenemia • Absence of products :Mitochondrial oxidation defects,Fatty acid oxidation defects

  37. Suspicion • Clinical • Acute illness following a period of normalcy • Lethargy or coma • Hypotonia, seizures (difficult to control), intractable hiccups • Respiratory distress • Sepsis or sepsis like illness with no predisposition, E.coli sepsis • Vomiting • Cholestatic jaundice • Unusual odor • Dysmorphic features • Organomegaly: hepatomegaly, renomegaly • Positive family history-----autosomal recessive and X linked • Unexplained early neonatal deaths • Parental consanguinity

  38. hypoglycemia Rule out sepsis,SGA,IDM,Syst illness Non gluc reducing. Subs in urine positive negative galactosemia,HFI Plasma ammonia Urinary ketone low high Plasma FFA hepatomegaly Low-hyperinsulinemia Consider:FAOD absent present Plasma.lactate Plasma hGH,cortisol,T4 Normal-ketotic hyperglycenemia high:GSD1 Abnormal-endocrinopathy

  39. Collection storage & Transport of sample • Urine • Routine biochemical test, protein, glucose,reducing subs, pH • Chemical test like DNPH, ferric chloride • Aminoacid chromatography • Organic acid • Blood • Ammonia-Sample in heparinized vial needs transpotation to lab on ice immediately. • Lactate-fluoride vial • Galactosemia & tyrosenemia- heparinised • For TMS- Fresh blood in filter paper

  40. Wilson & Jugner Criteria for screening(WHO1968) • Condition must be an important public health problem • Clinically & biochemically well defined • Disorder associated with significant mortality & morbidity • Effective treatment available • Period before onset during which intervention improves outcome • Ethical safe simple & robust screening test • Cost effectiveness of screening test established.

  41. Conclusion • Technological advance has made possible survival of more sicker & smaller babies. To have intact survival screening & intervention of these high risk babies is very important. • Routine screening for IEM/endocrinopathies before discharge is desirable but not justifiable at the present scenario of newborn health in Assam, but availability of screening tests can be utilized when clinical suspicion is there. • Pilot studies are required to know the prevalence of disease before universal screening programmes.

  42. THANK YOU

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