Newborn Screening
Bilal Sami Al-Mosheqah
01 What is newborn screening test
02 Most common newborn screening tests
03 Merits of newborn screening test
Objectives
May not have
symptoms right away
the process of taking a blood sample from a newborn baby and
testing the sample to identify specific illnesses or conditions.
With a simple blood test:
The blood sample for newborn screening is
taken from the baby’s heel
Newborn screening test
Serious
Rare
Newborn screening test
 The illnesses that are tested for in newborn screening are
Genetic
1 2
Metabolic
3
endocrine disorders
 The blood test is generally performed when a baby is 24 to 48
hours old !
 More than thirty disorders are included in the test
Congenital Hypothyroidism
1
2
Phenylketonuria
3
Biotinidase Deficiency
4
Sickle Cell Disease
5
Galactosemia
The most common newborn screening tests
Congenital Hypothyroidism
Affects one in about every 4,000 babies
If not identified and treated
 Develop mental retardation
 Growth failure
 Deafness
 Neurologic abnormalities
Low thyroid activity at birth
Early detection
and treatment
Baby is given a oral thyroid hormone in the first weeks of life
Phenylketonuria
Lack an enzyme called
phenylalanine hydroxylase
Phenylalanine accumulation
Brain damage
Early
detection
Baby is given a special formula and later
is a diet that is low in phenylalanine
Can prevent the consequences of the disease
and avoid the brain damage and learning
disabilities
Biotinidase Deficiency
Deficiency of the essential B vitamin biotin
 Frequent infections
 Hearing loss
 Uncoordinated movements
 Seizures
 Mental retardation
biotinidase deficiency
an enzyme that recycles biotin
Early
detection Baby is given extra biotin
Galactosemia
Lack the enzyme that converts galactose into glucose
Galactose can build up in the body and damage
cells and organs
 Blindness
 Severe intellectual disability
 Growth deficiency
 Death in severe cases
Early
detection
Elimination of galactose from the child's diet, by avoiding
milk and milk products
Sickle Cell Disease
 Blood disorder that's inherited.
 It affects a protein in red blood cells called hemoglobin
that helps carry oxygen throughout the body.
Sickle cell
Red blood cells( normal hemoglobin)
Stiff, and more fragile
Move easily through the bloodstream
Curved, sickle shape
Rounded shape
Sticky
Flexibility
Sickle Cell Disease
Pain episodes Damage to vital organs Death
Prone to certain dangerous bacterial
 Newborn screening
Alert doctors
Begin antibiotic treatment before infections happen
Helps doctors monitor symptoms more closely
One of the most successful public health programs
Newborn screening test
Saving lives
Protection against rare and
dangerous diseases
Increase quality of life
Sometimes the tests come out as false positive and false negative
Unnecessary costs
Parental anxiety,
Unnecessary treatments.
Missing affected infants
Newborn screening test (KSA)
27 November 2017
 The Program covers 183 hospitals of 188 maternity and
children hospitals in all
 MOH pays great attention to awareness raising
summary
most common newborn
screening tests
newborn screening
Pros and cons of
newborn screening
THANKS FOR LISTENING
https://www.moh.gov.sa/en/Ministry/MediaCenter/News/Pages/News-2017-11-27-003.aspx
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381153/
https://www.healthline.com/health/phenylketonuria
https://kidshealth.org/en/parents/newborn-screening-tests.html
https://www.medicinenet.com/newborn_screening_tests/views.htm
https://www.babysfirsttest.org/newborn-screening/screening-101

Newborn Screening tests