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Newborn Screening in North Carolina North Carolina State Laboratory of Public Health 306 N. Wilmington St., Raleigh, NC 27611 (919) 733-3937 http://slph/ncpublichealth.com/ Rev 2010 1 Newborn Screening Largest genetic testing effort in the nation and a major public health responsibility Rev 2010 2 Testing NC General Statutes states: every baby born in NC shall have a blood sample submitted to the NCSLPH for testing. Fee: Initial test - $19.00 Repeat test – no charge More than 30 disorders are screened on all newborns Rev 2010 3 Newborn Screening Filter Form DHHS 3105 Rev 2010 4 Specimen Dried-Blood Spot blood from heel stick on filter paper form Rev 2010 5 Processing of Newborn Screening Samples Rev 2010 6 Rev 2010 7 Newborn Screening Tests for Metabolic and Genetic Disorders Rev 2010 8 Screening Schedule Suggested specimen collection Prior to discharge/transfer Optimum age 24-72 hours Infant must be at least 24 hours old!! Note: Form must be completed correctly or processing will be will be delayed. Date/time of collection and collector’s initials must be noted. Rev 2010 9 Screening Can Affect Health TNT: Dr. David Chace Rev 2010 10 Organic Acid Disorders Genetic defect: absence of metabolic enzymes responsible for breakdown of protein Detection: accumulation of organic acids in blood and urine Symptoms: poor feeding, lethargy, vomiting, hypotonia, seizures, mental retardation, metabolic acidosis, coma, death Treatment: dietary protein restriction and dietary supplements Rev 2010 11 Organic Acid Disorders Tested in NC Glutaric acidemia type I (GA-I) Multiple carboxylase deficiency (MCD) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG) Isobutyryl-CoA dehydrogenase deficiency (IBD) Isovaleric acidemia / Isovaleryl-CoA dehydrogenase deficiency (IVA) Beta-ketothiolase (BKT) / Short-chain keto acylthiolase deficiency (SKAT) Methylmalonic aciduria (MMA) 2-Methylbutyryl-CoA dehydrogenase deficiency (2-MBD) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Propionic acidemia (PPA, PROP) Rev 2010 12 Fatty Acid Oxidation Disorders Genetic defect: enzymes necessary to break down fatty acids that produce energy are insufficient Detection: certain levels of acylcarnitines in the blood Symptoms: vomiting, lethargy, coma, death Treatment: avoidance or fasting, low fat diet, and dietary supplements Rev 2010 13 Fatty Acid Oxidative Disorders Tested in NC Carnitine/acylcarnitine translocase deficiency (CAT) * Carnitine palmitoyltransferase II deficiency (CPT II) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Multiple acyl-CoA dehydrogenase deficiency (GA-II) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) * Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) Rev 2010 14 Amino Acid Disorders Genetic defect: absence of certain metabolic enzymes that breakdown amino acids Detection: increased levels of certain amino acids in the blood* Symptoms: severe developmental and mental retardation, seizures, autistic-like behavior, vomiting, diarrhea, progressive liver disease, eye disorders, coma, convulsions, death Treatments: dietary restrictions and supplements *screening best done after 24 hours of age. Rev 2010 15 Amino Acid Disorders Tested in NC Argininosuccinic aciduria (ASA) Citrullinemia (CIT I) Homocystinuria (cystathionine beta synthase) (HCY) Maple syrup urine disease / Branched-chain ketoacid dehydrogenase (MSUD) Phenylketonuria / Hyperphenylalaninemia (PKU) Tyrosinemia type II (TYR-II) Tyrosinemia type III (TYR-III)* Rev 2010 16 Galactosemia (GAL) Genetic disorder: deficiency of enzymes that breakdown galactose into glucose Detection: initial test for total galactose; confirmation test for uridyl transferase Symptoms: start after first feeding; vomiting, jaundice, failure to thrive, sepsis (high neonatal mortality – E. coli sepsis) Treatment: elimination of lactose (and hence, galactose) from the diet; no milk products Rev 2010 17 Biotinidase Deficiency Genetic Disorder: deficiency of enzyme which causes release of protein-bound biotin (B vitamin) for use in metabolism of fats, carbohydrates and proteins Detection: biotinidase enzyme levels Symptoms: neurological abnormalities, rashes, alopecia, or loss of hair, loss of hearing Treatment: daily oral free biotin for life Rev 2010 18 Congenital Hypothyroidism Disorder: partial or complete loss of thyroid function and hormones that play an important role in regulating growth, brain development, and metabolism. Detection: measure T4 (thyroxin) and TSH (thyroid-stimulating hormone) Symptoms: enlarged fontanel, poor feeding, decreased crying, abnormal growth, mental retardation Treatment: oral thyroxin Rev 2010 19 Congenital Adrenal Hyperplasia Genetic disorder: deficiency of enzyme(s) (usually 21-hydroxylase) used by adrenal glands to produce hormones (cortisol and/or aldosterone) Detection: elevated levels of 17-hydroxy progesterone Symptoms: masculinization of genitals in females, salt-wasting crisis (frequent urination, poor feeding, vomiting, dehydration, electrolyte changes, cardiac arrhythmia, sudden death) Treatment: surgery to correct urogenital problems and lifetime oral HRT Rev 2010 20 Cystic Fibrosis Second most common life shortening, early onset inherited disorder in the US. Symptoms: salty tasting skin, persistent coughing and wheezing, recurring pneumonia, bulky stools, excessive appetite but poor weight gain Treatment: includes pancreatic enzyme supplements, antibiotics, daily airway clearance Rev 2010 21 Hemoglobinopathies Normal hemoglobin Sickle Cell Disease Rev 2010 22 Hemoglobinopathies Abnormal Hemoglobins Genetic defect results in abnormal structure of globin chain in hemoglobin molecule. Rev 2010 23 Hemoglobinopathies (cont.) Symptoms of SS anemia: anemia, jaundice, frequent infection, slow growth, extreme swelling of extremities, episodes of pain, and organ damage Rev 2010 24 Hemoglobinopathies ●Hemoglobin C disease (FC) ●Hemoglobin E disease (FE) ●Sickle cell disease (FS, HB S/S)* ●Sickle/hemoglobin C disease (FSC, HB S/C) ●Sickle/hemoglobin E disease (FSE, HB S/E) *Most common life shortening, early onset inherited disorder in the US Rev 2010 25 Sickle Cell Contract Addendum Test requirements: NC hospitals must perform sickle cell screen for all newborns prior to discharge. No need to repeat if results documented in child’s medical record. If results not available, testing: required for infants under 3 months of age. optional for infants 3 months of age or older. Rev 2010 26 Thalassemias Genetic defect - results in production of an abnormally low quantity of a given hemoglobin chain or chains. Characterized by absent or deficient production of 1 or more of the α or β-globin chains. Often present in combination with SS disease. State Lab results can detect Hemoglobin Barts in newborns and β-thalassemia in those > 1 year of age Symptoms: vary based on production of normal hemoglobin. Rev 2010 27 Reporting and Follow-up for Hemoglobinopathies/Thalassemias Disease (homozygous) - results to physician by Div. of WCH and to NC Sickle Cell Syndrome Program Trait (heterzygous) – letter to health care provider and parents Abnormal or inconclusive results: Additional testing requested on whole blood from infant and biological parents Should be seen at major medical center or local clinic Rev 2010 28 Limits for Newborn Screening Sample Submission Based on baby’s age at sample collection: Amino Acids, Acylcarnitine and CF infant must be < 6 mos. old Thyroid, CAH, GAL, BIO- infant must be Sickle Cell (Hemoglobinopathies) -infants < 1 year of age must be < 1 year of age; submit blood spot specimen on DHHS form #1859 if > 1 year of age Rev 2010 29 Report Notification to Health Care Provider By mail: Normal results - require no further specimen submission unless clinically indicated Unsatisfactory/borderlines specimens – repeat blood spot specimen requested by confirmation mail Abnormal results (verified) - immediate contact by telephone with fax directions and by confirmation mail for clinical evaluation and additional specimen collection for clinical diagnosis Rev 2010 30 State of North Carolina Laboratory of Public Health Department of Health and Human Services 2009 Edition Rev 2010 Copyright 2008 Lynn's Whims Photography. Permission granted to reprint. 31 WEB SITE FOR TRAINING http://slph.ncpublichealth.com Click on Newborn Screening, then Form Training Rev 2010 32 Contact Information NC State Laboratory of Public Health Newborn Screening /Clinical Chemistry Telephone: (919) 733-3937 Fax: (919) 715-8610 Website: http://slph.ncpublichealth.com Newborn Screening Director: Dr. Shu Chaing Newborn Screening Consultant: Ann Grush Laboratory Improvement Unit Patty Atwood, Coordinator Telephone: (919) 733-7186 Rev 2010 33