Newborn Screening: Blood Spot Disorders

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1 Newborn Screening: Blood Spot Disorders

2 Arizona s Newborn Screening Program Program Overview Panel of Disorders Disorder Descriptions

3 Program Components Hospitals ADHS Lab ADHS Follow-up ADHS Billing Medical Providers ADHS Education Contracted Specialists

4 Authority Arizona Revised Statutes Title 36, Chapter 6, Article 5 ( and ) Arizona Administrative Code Title 9, Chapter 13

5 Selecting Disorders for Screening Prevalence Inexpensive and reliable testing Effective treatment/intervention No treatment = death / severe impairment Appears normal at birth

6 Newborn Screening No Longer Just PKU Don t call it PKU anymore!

7 Panel of Disorders 6 Amino Acid disorders 5 Fatty Acid Oxidation disorders 9 Organic Acid disorders Biotinidase Deficiency Galactosemia Congenital Hypothyroidism Congenital Adrenal Hyperplasia 3 Hemoglobinopathies Cystic Fibrosis Hearing Loss is also part of the program

8 2 Screens for Each Newborn Two screens collected on filter paper 1 st screen: hours of life Prior to transfusion Prior to discharge 2 nd screen: At first PCP visit, or 5-10 days of age

9 Process Specimen collected and allowed to dry Sent to State Lab within 24 hours Laboratory tests specimen Normal results mailed to provider who ordered specimen Abnormal results tracked by follow-up team

10 Laboratory Tandem Mass Spectrometer (MS/MS)

11 Tandem Mass Spectrometry (MS/MS)

12 Panel Disorders Detectable with MS/MS Amino Acid PKU HCY MSUD ASA Tyrosinemia 1 Citrullinemia Organic Acid Isovaleric Acidemia Glutaric Acidemia 1 HMG MCD MMA - mutase MMA - Cbl A, B 3MCC Propionic Acidemia BKT Fatty Acid Oxidation MCADD VLCADD Tri-functional Protein Deficiency Carnitine Uptake Defect LCHADD

13 Phenylketonuria (PKU) Autosomal recessive Incidence: 1/14,000 births Carrier frequency: 1/60

14 Untreated PKU Mental retardation Seizures Eczema Behavioral problems Hypopigmentation

15 Treatment of PKU Dietary control of phenylalanine Protein restriction Phenylalanine-free products Monitor plasma phenylalanine levels Normal intelligence is possible with a properly controlled diet

16 Maple Syrup Urine Disease (MSUD) Autosomal recessive inheritance Incidence: 1/200,000 births Carrier frequency: 1/225

17 Untreated MSUD Poor feeding, vomiting, irritability, coma Metabolic acidosis Hypoglycemia Maple syrup or burnt sugar urinary odor Progressive neurologic damage

18 Treatment of MSUD Dietary restriction leucine, isoleucine, and valine (protein restriction) Monitor plasma amino acids Best outcome = Treatment by one week of age Neurologic deficits if treatment is delayed Death may result if not diagnosed promptly

19 Homocystinuria Autosomal recessive inheritance Incidence: 1/100,000 births Carrier frequency: 1/160

20 Homocystinuria (HCU)

21 Untreated Homocystinuria Dislocated lenses Osteoporosis Mental retardation Psychiatric disturbances Arterial thrombosis

22 Treatment of Homocystinuria 50% will respond to Vitamin B 6 (pyridoxine) Dietary restriction of the amino acid methionine Betaine and aspirin for patients who do not respond to pyridoxine Difficult diet and poor compliance because of the minimal symptoms

23 Fatty Acid Oxidation Disorders Autosomal recessive disorders Symptoms during fasting acute, profound hypoglycemia, coma, death Fatty acid oxidation = important energy source when hepatic glycogen & blood glucose are exhausted MCADD: 19-25% die at 1st metabolic crisis

24 Fatty Acid Oxidation Disorders Need: Frequent feedings Relatively low fat diet Snack before bedtime IV dextrose during high risk periods Medic-Alert with instruction sheets

25 Organic Acid Disorders Autosomal recessive disorders Enzymes are important intermediate in the metabolism of several amino acids, lipids, sugars & steroids Symptoms usually in 0-18 months Cause protein intolerance, vomiting, FTT, seizures, brain damage, coma, death Need dietary protein restriction & possible carnitine supplement

26 Galactosemia Autosomal recessive inheritance Incidence: 1/ 50,000 births Carrier frequency: 1/112

27 Untreated Galactosemia Failure to thrive Vomiting/diarrhea Hepatic dysfunction (jaundice) Cataracts Cirrhosis Mental retardation E. coli sepsis Death (possible)

28 Galactosemia Treatment & Outcomes Dietary restriction of galactose Usually normal (or low normal) intelligence Increased risk of speech dyspraxia and learning disabilities Females - ovarian dysfunction Males - normal fertility

29 Biotinidase Deficiency Autosomal recessive inheritance Incidence: 1/60,000 Carrier frequency: 1/120

30 Untreated Biotinidase Deficiency Seizures Skin rash Hair loss Hypotonia Optic nerve atrophy Developmental delay Hearing loss Ataxia

31 Treatment of Biotinidase Deficiency Biotin at 5-10 mg per day

32 Congenital Hypothyroidism Incidence: 1/4000 births Most cases are sporadic Only about 5% of cases are inherited

33 Congenital Hypothyroidism

34 Untreated Congenital Hypothyroidism Mental retardation Poor growth Prolonged neonatal jaundice Poor feeding Constipation

35 Treatment of Congenital Hypothyroidism Administration of thyroxine (Synthroid) Long-term monitoring of thyroid hormone levels and TSH

36 TSH Screening Considerations First 24 hours of life is time of equilibration of thyroid hormone (TSH elevation is common)

37 Hemoglobinopathies Hb S/Beta-thalassemia Hb S/S disease (sickle cell anemia) (Hb S/S incidence in African-Americans is 1:375) Hb S/C disease Also detects traits

38 Sickle Cell Anemia Glutamate to valine amino acid change in the β-globin chain Distortion of the red blood cell Vaso-occlusive crises bone pain, stroke, organ damage Infection from immune cell (splenic) dysfunction Penicillin prophylaxis may reduce the early incidence of infection

39 Congenital Adrenal Hyperplasia (CAH) Test for elevation of 17-αhydroxyprogesterone (17-OHP) due to 21-hydroxylase deficiency Autosomal recessive, 1:15,000

40 Congenital Adrenal Hyperplasia Aldosterone = dehydration & hypona Androgen production = ambiguous genitalia

41 Hearing Loss Why Screen for Hearing Loss? Significant hearing loss is present in 1 to 3 out of every 1,000 newborn infants The first months of life are a critical period for developing speech and language skills Babies with hearing loss who receive appropriate early intervention by six months are much more likely to speak and understand language well

42 Early Hearing Detection and Intervention EHDI GOALS 1-Screen by 1 month. Complete screening inpatient, soon after birth whenever possible. 6-Baby should be enrolled in Early Intervention services by 6 months. 3-Complete Diagnostic Eval before 3 months. Earlier is better.

43 Cystic Fibrosis Added to the Az. panel in October 2007 Use an extended panel of 46 mutations to the CFTR gene (over 1500 genes detected) Methodology IRT Lower 97.8 % / DNA Top 2.2 % An inherited disease that affects the normal movement of salt (sodium chloride) and water into and out of certain cells, including those that line the lungs and pancreas. This results in thick, sticky mucus and other secretions.

44 National Institute of Health-Library of Medicine Genetic Alliance National Newborn Screening & Genetics Resource Center American College of Medical Genetics Clinical & Laboratory Standards Institute References Maternal Child Health Bureau National Center for Hearing Assessment and Management (NCHAM)

45 Arizona Newborn Screening Phone (602) (800) (outside Maricopa County) Fax (602) Website

46 Thank You!

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