Newborn Screening in Nebraska
REQUIRED TESTS

DISORDERS REQUIRED TO BE SCREENED IN NEBRASKA
Every baby born in Nebraska is required to have testing for the following treatable disorders:

SUMMARY OF MANDATED DISORDERS SCREENED FOR BY THE PROGRAM

Condition

Testing for

Estimated Incidence

Effects if Not Treated

Treatment

Biotinidase Deficiency

p-amino benzoate

1:112,000 (Profound)


*Found more often in Nebraska newborns

Mental retardation, seizures, deafness, skin rash, hair loss.

May have lethargy, breathing problems, enlarged spleen & liver, and coma.

Normal development.
 
Treatment is prescribed doses of oral Biotin.

 

Congenital Adrenal Hyperplasia (CAH)

Steroid 17-alpha hydroxyprogesterone levels/reflex to extracted 17-OHP on subset of specimens

1:15,981

Variable:
Girls may be mislabeled as males
Adrenal "salt-wasting" crisis:

  • poor feeding, vomiting
  • loose stools or diarrhea
  • weak cry
  • failure to thrive
  • dehydration
  • lethargy

May result in infant death, or permanent brain injury.

Prevent infant death, prevent incorrect sex labeling, and prevent problems from too much adrenal hormone
 
Treatment: Steroid (Cortisol), Emergency medications

 

Congenital Primary Hypothyroidism (CPH)

Thyroxin (T 4) & Thyroid Stimulating Hormone (TSH)

1:3000 to 1:4000

Severe mental retardation, growth retardation

Normal development

Treatment is with daily thyroid hormone

Cystic Fibrosis (CF)

Immunoreactive trypsinogen levels/reflex to DNA on subset of specimens

1:7000 to 1:14000

Varies from mild to severe: poor function of the pancreas, failure to thrive, cough & wheeze, poor lung function, high risk for lung infection

Better growth and development, better quality of life, less and shorter hospital stays, avoid lung infection, and longer life
 
Treatments include nutritional supplements, medications and other therapies.

 

Galactosemia

Total galactose & uridyl- transferase

1:47,000

Poor feeding, vomiting & diarrhea, jaundice, enlarged liver, blood system infection, cataracts, mental retardation, ovarian failure, failure to thrive, death if untreated

Prevent infant death

Varies from much improved to normal development
 
Treatment is a lactose-free diet

 

Hemoglobinopathies Including Sickle Cell

Hemoglobins
F A S & C

1:2,000 - 1:2,500* (more common in certain ethnic groups)

Varies from moderate to severe: anemia, severe pain, blood system infection, acute chest syndrome, enlarged spleen, stroke and high death rate

Prevent infant death and reduce severity of symptoms
 
Treatment includes: daily penicillin, folic acid, pain management and parent education & counseling
 
Some patients may need blood

 

FATTY ACID CONDITIONS including:

 

-Carnitine Update Defect

-Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCAD)

-Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

-Trifunctional Protein Deficiency (TFP)

-Very Long-chain Acycl-CoA Dehydrogenase Deficiency (VLCAD)

 

Acylcarnitine Profile

 

Collective incidence unknown
1:12000 for MCAD, varies or unknown for others

 

Metabolic crisis which includes: very low blood sugar, vomiting, possible seizures, coma and possible death
 
Developmental problems may occur if the child has and survives the above.

 

Prevents infant death
 
Treatment: avoid fasting, eat a low-fat diet, and may supplement with carnitine.
 
If child gets ill, hospitalize for preventive treatment to avoid metabolic crisis.

 

AMINO ACID CONDITIONS including:

-Arginiosuccinic Acidemia (ASA)

-Citrullinemia (CIT)

-Homocystinuria (HCY)

-Isovaleric Acidemia (IVA)

-Maple Syrup Urine Disease (MSUD)

-Methylmalonic Acidemia (MUT) or (Cbl A and B)

-Phenylketonuria (PKU)

-Propionic Acidemia (PA)

-Tyrosinemia (TYR)

-3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)

Amino Acid profile

1:12000 for PKU, varies or unknown for others

Varies by condition but can include,  mental retardation, seizures, nerve and brain cell damage

Normal development or at least minimized effects.

 

Treatment is a diet with special formula and foods.

ORGANIC ACID CONDITIONS including:

-Beta-ketothiolase Deficiency (BKT)

-Glutaric Acidemia type 1 (GA1)

-3-Hydroxy 3-Methyl Glutaric Aciduria HMG)

Amino acid and acylcarnitine profiles

varies or unknown

Metabolic crisis which includes: very low blood sugar, vomiting, possible seizures, coma and possible death
 
Developmental problems may occur if the child has and survives the above.   May also include heart problems.

 

Close monitoring, special formulas and diet.

VITAMIN METABOLISM CONDITIONS including:

-Mutiple Carboxylase Deficiency (MCD)

- (Cbl A and B) amino acid and vitamin disorder

-(Biotinidase Deficiency is also in this category but not screened by tandem mass spectrometry)

 

Amino acid and acylcarnitine profiles

varies or unknown

Varies by condition but can include,   mental retardation, seizures, nerve and brain cell damage and possibly death.

Pharmaceutical doses of deficient vitamins


*Incidence of hemoglobinopathies in the general population
Source: AmericanAcademy of Pediatrics, “Newborn Screening Fact Sheets, Committee on Genetics", PEDIATRICS 2006; 118;934-963