Newborn Screening PDF

Lecturer: Rachel Rogers, M.D. Slides adapted from: Amanda Fleenor, MMS, PA-C Clinical Skills II  Heel stick / dried blood spot Hearing Congenital heart disease 2-3 days of life 2 week visit 2 month visit Newborn Heel Stick Screening  Screening test for genetic and met...

Lecturer: Rachel Rogers, M.D. Slides adapted from: Amanda Fleenor, MMS, PA-C Clinical Skills II  Heel stick / dried blood spot Hearing Congenital heart disease 2-3 days of life 2 week visit 2 month visit Newborn Heel Stick Screening  Screening test for genetic and metabolic disorders  Mandated by every state, however, list of conditions screened for varies by state  Required disorders Newborn Heel Stick Screening  Virginia first mandated in 1966  Required by law for ALL infants  Unless parent or guardian objects on the grounds that the test conflicts with their religious practices  Must be performed AFTER 24 hours of life  Must be repeated if infant receives antibiotics or transfusion  The Virginia Department of Health's newborn screening staff follows-up on abnormal test results for more than 20,000 infants each year  Can repeat tests on infants up to 6 months of age Newborn Heel Stick Screening  Fill out form completely  Put on gloves, clean newborn heel, stick with lancet, wipe first drop of blood with gauze  Place drop of blood in each of five test circles Virginia Screens for over 30 Disorders  About 98,000 babies screened annually for 30+ metabolic and hereditary disorders  Over 600 identified as having one or more disorders In July 2021, DCLS* screened 8,600 babies for 31 metabolic and hereditary disorders. Four hundred and thirty- one (431) were confirmed diagnosed with a critical disorder or with a carrier status during the month. *Division of Consolidated Laboratory Services Core Disorders Biotinidase deficiency, partial (BIO partial) 1 Congenital adrenal hyperplasia, salt-wasting (CAH (SW)) 1 Cystic fibrosis (CF) 1 Hb C-disease (Hb F,C) 1 Hb SC-disease (Hb F,S,C) 5 Hb SS-disease (sickle cell anemia) (Hb F,S) 5 Hypothyroidism, primary congenital (CH) 3 Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) 1 Phenylketonuria (PKU) 1 Pompe Disease, Probable Late Onset (Probable LOPD) 1 Secondary Disorders: disorders that can be detected in the differential diagnosis of a core Cystic fibrosis carrier (CF carrier) 17 Galactosemia carrier (GALT carrier) 3 Galactosemia, duarte (unspecified) 3 Hb C beta-thalassemia (Hb F,C,A) 1 Hb S (sickle)-carrier (Hb F,A,S) 259 Mucopolysaccharidosis type I Carrier, (MPS-1 Carrier) 4 Pompe Disease, Carrier 6 Thyroid-binding globulin deficiency (TBG) 2 Very long-chain acyl-CoA dehydrogenase deficiency carrier (VLCAD carrier) 1 Hearing Screening  Automated Auditory Brainstem Response (AABR)  Measures how the vestibulocochlear nerve responds to sound  Clicks or tones are played earphone and electrodes placed baby's head measure the response Hearing Screening  Otoacoustic Emissions (OAE)  Measures sound waves produced in the inner ear  Probe placed just inside the EAC that measures the response when clicks or tones are played into the baby's ears  1 or both tests used  Both tests are quick (5 to 10 minutes) and painless Screening for Congenital Heart Disease Bright Futures tables for infancy visits –Birth – 9mths General Information  Date of Visit  Identifying data  Name  Birth date  Gender  Race  Informant Chief Complaint  What brings patient in for visit in caregivers own words  “Well visit” okay History of Present Illness  Events leading to visit in OPQRST or OLDCARTS format  O – Onset of event  P – Provocation or Palliation  Q – Quality of pain or other symptom  R – Region or Radiation  S - Severity  T – Time (History)  Well visit? Past Medical history  Review record – Previous office note or well visit, screening results, etc.  Statement of overall health status  List any current/chronic medical illness with date of onset  List any hospitalizations with date and reason for hospitalization  List any surgery, even if minor, with date, location, provider  List medications with dose, route, frequency, indication  List other members of care team  Mention accidents, injury, or poisonings Prenatal History  Questions pertaining to pregnancy  Weight gain  Illnesses; chronic or acute  Environmental exposure  Medications  Substance use  Nutrition  Social situation Common Teratogenic Drugs Drugs Results Alcohol Fetal alcohol Syndrome, microcephaly, congenital heart disease Fluoxetine (SSRI) Minor malformations, low birth weight, poor neonatal adaptation Folic Acid Antagonist (trimethoprim, Neural tube, cardiovascular, renal, and triamterene, phenytoin, primidone, oral cleft defects phenobarbital, carbamazepine) Isotretinoin (Accutane) and Vitamin A Facial and ear anomalies, congenital heart disease Lithium Ebstein anomaly Phenytoin Hypoplastic nails, IUGR, atypical facies Radioactive Iodine Fetal Hypothyroidism Common Teratogenic Drugs Drugs Results Radiation Microcephaly Stilbestrol (DES) Vaginal adenocarcinoma during adolescence Streptomycin Deafness Testosterone-like drugs Virilization of female Tetracycline Enamel Hypoplasia Thalidomide Phocomelia Toluene (solvent abuse) Fetal alcohol – like syndrome, preterm labor Valproate Spina Bifida Vitamin D Supravalvular aortic stenosis Maternal Risk Factors  Maternal Age  > 35 years old – Advanced Maternal Age  16 – 35 years old – Normal Maternal Age  < 16 years old – Young Maternal Age Maternal Risk Factors  Maternal Health  Smoking – Reduced weight & increased SIDS risk  Alcohol – Negative effects on brain development, cyanotic heart disease, arrhythmias, CHF, prematurity  Substance Abuse – Growth retardation, IUGR, NAS/neonatal withdrawal  Trauma – Blunt, Penetrating? – Evaluate Everything Maternal Risk Factors Condition Effect Hypertension SGA, premature birth & placental abruption Diabetes LGA infant, risk of hypoglycemia Hypothyroidism Poor growth, jaundice Hyperthyroidism Preterm delivery, SGA, birth defects if on Methimazole or tapazole or could have neonatal Grave’s disease Hyperparathyroidism Hypocalcemia Infection Neonatal Sepsis Systemic Lupus Erythematous Congenital heart block, rash, anemia, thrombocytopenia, neutropenia, cardiomyopathy, stillbirth HIV, Hepatitis B & C Infection risk Rheumatic Fever Atrial fibrillation, CHF RH or other blood group sensitization Fetal anemia, hypoalbuminemia, hydrops, neonatal jaundice  Birth History  Length of pregnancy in weeks  Maternal intrapartum events  Hospital visits  Illnesses  Special care  Neonatal intrapartum events  Tachycardia  Abnormal ultrasound exams  Fetal decelerations during labor  Neonatal History  APGAR scores  Did the baby require resuscitation?  Events in the newborn nursery:  Adjustment to extrauterine life  Feeding  Other problems  How old was the baby when you took them home?  Neonatal History  Did the baby have any problems during their first days of life  Hypoglycemia  Respiratory distress  Infection  Jaundice  Difficulty with temperature regulation  Trouble with feeding, voiding, or stooling  Others  Results of Screening test if not previously reviewed or if repeated  Old records may be helpful if complications were present  Feeding History  Type of feeding  Breast or bottle  Feeding problems  Resolved or current  Weight problems; failure to gain weight Developmental History  Achievement of milestones - appropriate or delayed?  Milestone regression?  Family norms  Developmental Milestones Age Gross Motor Fine Motor – Personal – Social Language Adaptive 2 week Moves head Side Regards Face Alerts to bell to Side 2 month Lifts Shoulder Tracks past Smiles Cooing while prone midline Responsively Searches for sound with eyes Denver Developmental Screening Test II CDC developmental milestone for parent/caregivers Immunization History  Extremely important  Missed doses?  Any reactions? Immunization Schedules  Birth to 18 yrs immunization schedules including “catch-up” schedule  https://www.cdc.gov/vaccines/schedules/hcp/imz/chi ld-adolescent.html  https://www.immunize.org/handouts/ Immunization Schedules  Also, there's an App for that ☺ Family History  ALL systems and first-degree relatives  Do not forget mental health disorders  Ask about anything that may be pertinent for the current visit Social History  Details of the family unit  How many in home?  WHO is in the home?  Parents married?  Who cares for child?  Family attitudes  Risk factors for child Social History Cont.  Is home a house, apartment, or mobile home?  Is home in town or in the country?  How old is home?  City or well water?  What kind of heating\cooling system does home have?  Do you have a basement? Is it dry?  Do you have pets or large animals? What kind?  Does anyone at home smoke? Inside home or in car?  What do mom, dad, siblings do for a living?  Parent/Child Interaction  How does the parent respond to the child’s needs?  Is there eye-contact?  Is there communication with siblings?  Do the parents communicate to each other/patient with sensitivity and respect?  Does the parent handle and respond to the child in a developmentally appropriate way? Interval History  Necessary if long period (greater than 2 months for infants) between visits  Very important if child has had serious illness, new diagnosis, or surgery  Necessary if child has been in protective care Infant Review of Systems:  General - Birth weight, weight changes, feeding frequency, fevers, lack of crying, incessant crying  Derm - Rashes, discolorations  Hem/Onc - Easy bruising, bleeding  Eye - strabismus, oscillations/nystagmus, blindness  Ear - hearing abnormalities, ear discharge  Nose/Mouth - loud breathing/snoring, nasal congestion/discharge  Cardiac - cyanosis  Respiratory - wheezing, stridor, cough  Gastrointestinal - vomiting (projectile vs. non-projectile), jaundice, feeding issues, colic, stool frequency, color and character  Urinary - frequency, hematuria  Musculoskeletal - joint abnormalities  Developmental - milestones  Behavior - attachment issues, attention issues  Sleeping position, environment (use of blankets, pillows, etc.) Take Home Points  First, let parents express concerns  Ask open-ended questions  Be objective and non-judgmental  Express your interest in the patient AND the informant  Be sure others can read your record (correct spelling and grammar)  The history may make the diagnosis Information conveyed to parents/caregivers verbally or in written materials that is meant to assist in facilitating optimal growth and development for their children Anticipatory Guidance  Bright futures - AAP project to standardize and improve issues in anticipatory guidance for pediatricians and other health care providers  http://brightfutures.aap.org  5 main areas in neonatal/infant period  Injury Prevention  Violence Prevention  Sleep Position  Nutritional Counseling  Fostering Optimal Development Anticipatory Guidance Age Injury Violence Sleep Nutritional Fostering Prevention Prevention Position Counseling Optimal Development Birth Crib Safety Assess Back to Exclusive Discuss Hot water bonding sleep breast parenting skills heaters and Crib feeding Refer for