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Chapter 1 Index
A. General Information
about the well child examination
--Prenatal Visit
--Well Child Check-up
--Neonatal Jaundice
--Breast
Milk Jaundice
--Circumcision
--Diapers
--Pacifiers
--Birth Defects |
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Newborn Metabolic Screen
Conditions screened in newborn metabolic screen in Georgia: for
results call: 404-727-0486
| Name of Condition |
Frequency |
Criteria |
Treatment |
1. Sickle Cell:
call: 721-9640 results |
1:400 blacks |
Elevated Hgb S |
Prevent Sepsis:
po Pen V |
| 2. Hypothyroidism |
1:4,000 |
Low or nl T4; High TSH |
Replace L-thyroxine |
| 3. PKU |
1:10,000 |
Elevated phenylalanine |
Low phenylalanine diet |
| 4. Tyrosinemia |
not reported |
Elevated tyrosine |
Restrict protein in diet Give Vitamin C |
| 5. Galactosemia |
1:10,000 to 1:90,000 |
Elevated galactose |
Eliminate galactose and lactose in diet |
| 6. Congenital Adrenal Hyperplasia |
1: 15,000 to 1:3,000 in native Eskimos |
Elevated 17-OH progesterone |
Replace corticosteroids |
| 7. Maple Syrup Urine Disease |
1:90,000 to >1:200,000 |
Elevated leucine |
Diet low in leucine, isoleucine and valine |
| 8. Homocystinuria |
1:200,000 |
Elevated Methionine |
Methionine restricted diet; cystine
replacement |
Conditions for which also able to screen (not done in Georgia):
| Condition |
Frequency |
Criteria |
Treatment |
| Biotinidase deficiency |
1:70,000 |
Deficient/absent biotinide |
10 mg biotin daily |
| Sickle cell - all children: Middle east;
whites, Asia, Europe |
unknown |
Elevated Hgb S |
Prophylaxis |
| Cystic Fibrosis |
1:2000 |
Immunoreactive trypsin
false +:0.2%
false - 3.8%; DNA tests |
Rx of CF |
| Duchenne's Muscular Dystrophy |
1:11,000
(1:4000 males) |
Creatine Kinase elevation |
Genetic Counseling |
| Others: MCAD, Organic Acidurias Tuberous
Sclerosis |
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Thyroid Abnormalities: other than sickle cell problems, most common problem
seen:
| T4 |
TSH |
Diagnosis |
|
Normal |
normal |
Normal |
|
Normal |
High* |
Hypothyroidism |
|
Low |
High* |
Hypothyroidism |
|
Low |
normal |
Thyroid Binding Globulin deficiency** |
|
High |
low |
Hyperthyroidism |
* If TSH is high, start Synthroid after drawing repeat
TSH, free T4 – this is urgent!!!
**free T4 level will be normal.
Commonly asked questions and answers:
- Q: Which of the 8 conditions screened for will be affected by
screening before 48 hours?
A: a. Thyroid: Because of maternal surge at time of delivery the
TSH and T4 will both be increased during the first 24 hours.
b. MSUD - affected
c. Homocystinuria - affected
d. Not affected: galactosemia (if the deficient enzyme method used); PKU -
although some with non-PKU hyperphenylalaninemia missed
- Q: Is 48 hours of age the most accurate time to do the
metabolic screen?
A: In the past, repeat metabolic screens were done at 4-6 weeks of
age; the difference in return was minimal. Thus, this is the time
considered to be most important.
- Q: If the screen is not totally reliable before 48 hours of
age, should we omit collecting the screen if child is discharged before
that age?
A: No. Because of the answer to the first question above, all
children should have a metabolic screen done before their discharge at any
age.
- Q: What are the indications for collecting a second metabolic
screen?
A: Inadequate feeds, baby on antibiotics, sample collected prior to
48 hours of age.
- Q: If a second sample is needed, by what age should it be
collected?
A: By 7 days of age.
- Q: Which of the metabolic screen tests are affected by
administration of antibiotics and why?
A: Homocystinuria, MSUD, and tyrosinemia. These 3 conditions are
diagnosed by means of a bacterial inhibition assay - antibiotics kill the
bacteria, so the test must be repeated. PKU used to be on the list, but
recent studies show that untrue for this condition.
- Q: Which test is most likely to show a false negative result
and why?
A: Thyroid: - all T4 screening tests in premature infants should be
repeated, because of physiological immaturity in prematures.
- another reason is that small amounts of residual tissue can be lost in
the first weeks of life, and hypothyroidism shows up later.
- Q: What is the most common reason to have a false positive or
false negative results?
A: Improperly collected specimens or improperly labeled specimens
that get lost.
- Q: What are the only two conditions screened for in every
state?
A: Thyroid and PKU.
Updated 7/01
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