Transcript North Carolina State Laboratory of Public Health

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/
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Newborn Screening
Largest genetic
testing effort
in the nation
and
a major public
health
responsibility
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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
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Newborn Screening Filter Form
DHHS 3105
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Specimen
Dried-Blood Spot
blood from heel
stick on
filter paper form
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Processing of Newborn Screening
Samples
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Newborn Screening
Tests for
Metabolic and
Genetic Disorders
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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.
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Screening Can Affect Health
TNT: Dr. David Chace
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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
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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)
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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
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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)
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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.
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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)*
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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
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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
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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
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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
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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
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Hemoglobinopathies
Normal hemoglobin
Sickle Cell Disease
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Hemoglobinopathies
Abnormal
Hemoglobins
Genetic defect results in
abnormal structure
of globin chain in
hemoglobin
molecule.
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Hemoglobinopathies (cont.)
Symptoms of SS anemia: anemia, jaundice,
frequent infection, slow growth, extreme
swelling of extremities, episodes of pain, and
organ damage
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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
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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.
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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.
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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
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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
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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
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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.
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WEB SITE FOR TRAINING
http://slph.ncpublichealth.com
Click on Newborn Screening, then
Form Training
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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
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