This document discusses newborn screening, including definitions, principles, and Egypt's newborn screening program. Newborn screening involves testing apparently healthy newborns to identify those at risk for certain conditions. Egypt's program screens all newborns for phenylketonuria (PKU) and congenital hypothyroidism by testing a blood spot from the baby's heel 3-7 days after birth. PKU results from a lack of an enzyme and causes developmental issues if untreated, but can be managed with dietary changes. Congenital hypothyroidism is screened for using TSH and T4 levels.

1. By
Ranim Mahmoud
Newborn screening

2.  Definition of screening
 Principles of population screening
 Screening program in EGYPT

3. Definition of screening

4.  Screening is a process of identifying apparently healthy people
who may be at increased risk of a disease or condition.
 They can then be offered information, further tests and
appropriate treatment to reduce their risk and/or any
complications arising from the disease or condition.

5.  A screening test does not diagnose a particular condition, but
merely sorts the population into test positive and test
negative groups.

6. Principles of screening

7. 1. The condition screened for should be an important health
problem
2. The natural history should be well understood
3. There should be an early detectable stage (latent period)
4. Early treatment is more beneficial than at a late stage
5. There should be a suitable test for early stage disease
6. The test should be acceptable to the target population

8. 7. Intervals for repeat screening should be determined.
8. There should be adequate health service provision for the
extra clinical workload resulting from the screen
9. The risks, both physical and psychological, should be
outweighed by the benefits
10. The costs should be balanced against benefits

9. Newborn Baby Screening in Egypt

10. ▪ Mothers of all newborn babies are offered testing
for certain conditions by testing a blood spot taken
from the baby's heel
▪ This is usually done 3-7 days after birth.

11.  Phenylketonuria
 Congenital hypothyroidism

12.  Phenylketonuria (PKU) is an aminoacidopathy
 Due to a deficiency of phenylalanine hydroxylase, which converts
phenylalanine to tyrosine.
 Accumulation of phenylalanine, if untreated, causes
microcephaly, seizures and learning difficulties.
 PKU is treated with a low protein diet, so restricting intake of
phenylalanine in conjunction with a phenylalanine-free amino
acid supplement.

13.  Examined for:TSH,T4
Screening byTSH:
 If >40uIU/ml: hypothyroidism
 20-40 uIU/ml: suspecious for reevaluation
 < 20 uIU/ml: normal
Screening byT4
 T4<6.6 mg/dl is diagnostic

14. Thank you