Newborn screening involves testing newborns for genetic disorders, metabolic disorders, and hearing loss before discharge from the hospital. It is required in most states. Early identification allows for early treatment to prevent complications. The screening involves a blood test to detect metabolic disorders and a hearing test. A positive screening result requires follow up testing to confirm a diagnosis. If confirmed, the baby will be referred to a specialist for treatment. Newborn screening aims to identify disorders that are not otherwise apparent at birth to improve health outcomes.

1. Newborn Screening
By: Cleofe Ailyne &
Rayburn, Almira
February 11, 2017

2. I. What is newborn
screening?
Newborn screening is the
practice of testing every
newborn for certain harmful
or potentially fatal disorders
that aren’t otherwise
apparent birth.

3. Newborn screening tests are
required in most states
before discharge are used to
check for certain genetic
and inborn errors of metabolism
and hearing. Early
identification and initiation of
treatment can prevent
significant complications and can
minimize the
negative effects of untreated
disease.

4. Different Diseases or Disorders that usually
included in Newborn Screening:
• is a metabolic disorder. Metabolism is the
process in the body that converts the fuel from
food into energy needed to do everything from
moving to thinking to growing.
Phenylketonuria (PKU)
• A metabolic disorder is any disease caused by an
abnormal chemical reaction in the body’s cells.
Babies with PKU are missing an enzyme that’s
needed to process phenylalanine is an amino acid
necessary for normal growth in kids and for normal
protein use. Amino acids are the “building blocks”

5. Congenital Hypothyroidism
– is inadequate hormone
production in newborn
infants. It can occur
because of an anatomic
defect in the gland an
inborn error of thyroid
metabolism or iodine
deficiency.

6. Galactosemia
– is a rare genetic metabolic
disorder that affects an
individual’s ability to metabolize
the sugar galactose properly
Follows an autosomal recessive
Mode inheritance that confers a
deficiency in an enzyme responsible
for adequate galactose
degradation.

7. Sickle Cell Disease
Is describes a group of inherited
red blood cells disorder. Abnormal
hemoglobin or hemoglobin long life
illness.

8. Biotinidase Deficiency
– is an autosomal recessive
metabolic disorder in which biotin is
not released from proteins in the
diet during digestion or from normal
protein turnover in the cell. This
situation results in biotin deficiency.

9. Maple Syrup Urine Disease (MSUD)
Also called branched – chain
ketoaciduria, is anautosomal
recessive metabolic disorder
affecting brached-chain amino acids.
It is one type of organic acidemia.

10. Tyrosinemia
is a genetic disorder characterized
by disruptions in the multistep
process that breaks down the
amino acid tyrosine, a building
block of most proteins. If untreated,
tyrosine and its byproducts build up
in tissues and organ, which can lead
to serious health.

11. Cystic Fibrosis
is a genetic disorder that
effects mostly the lungs, but also
the pancreas, liver, kidneys, and
intestine. Long term issue includes
difficulty breathing and coughing up
mucus as a result of frequent lung
infections

12. MCAD) Medium -Chain – Acyl-Coa Dehydrogenase
– is an inherited disorder that
prevents your body from
breaking down certain fats and
converting them into energy. As
a result, the level of sugar in
your blood can drop
dangerously. MCAD present at
birth

13. Severe Combined Immunodeficiency (SCID
also known as alymphocytosis,
Glanzmann – Riniker Syndrome,
severe mixed immunodeficiency
syndrome, and thymic
alymphoplasia, is a rare genetic
disorder characterized by the
disturbed development of
functional T cell and B cells
caused by numerous genetic
mutation.

14. -G6PD is an inherited condition of the blood.
Individuals with G6PD deficiency usually show no sign or symptoms of
the condition until they are exposed to certain medications, foods and
infections.
-when the condition is identified through newborn screening and
properly managed, children with G6PD deficiency often lead healthy
life.

15. How is newborn screening done?
 All newborn should be screened prior
to discharge to ensure that any newborn
with hearing loss in not missed.
 Screening tests for genetic and inborn
errors of metabolism require a few
drops of blood taken from the
newborn’s heel – these tests are usually
performed shortly before discharge.
 Be familiar with the optimal time frame
for screening and conditions that could
affect the results.

16. There are three parts to
newborn screening:
Blood Test:
-First, a physicial, nurse, midwife or other
trainedmember of the hospital staff will
fill out a newborn screening card. One
part of this card is the filter paper to
collect the baby’s blood sample.
-the other part is for important
information for the lab performing the
screen, such as the baby’s name, sex,
weight, date/time of birth, date/time of
hell stick collection, and date/time of first
feeding. It will also include the contact
information of the parents and the baby’s
primary care – provider for the follow- up
results.

17. Newborn Hearing Screening
Methods:
A newborn’s hearing can be screened in one or
two ways:
Otoacoustic Emission (OAE
or automated auditory brain stem response
(ABR). In OAE,an earphone is place in the
infant’s ear canal and the sound produced
by the newborn’s inner ear are measured is
response to certain tones or clicks
presented through the earphone Present
parameters in the equipment decide
whether the OAE’s are sufficient for the
newborn to pass or whether a referral is
necessary for further evaluation.

18. In ABR, an earphone is placed in the
ear canalor an earmuff is placed
over the newborn’s ear, and a soft,
rapid tapping noise is presented.
Electrodes placed around the
newborn’s head, neck and
shoulders record neural activity
from the infant’ brain stem in
response to the tapping noises. The
ABR tests how well the ear and the
nerves leading to the brain work.
- Sensitive to more than mild
degrees of hearing loss, but a
“pass” does not guarantee
normal hearing

19. Pulse Oximetry Testing
or pulse ox, is non invasive test that
measure how much oxygen is in the
blood. Infants with heart problems may
have low blood oxygen levels,
and therefore, the pulse ox test can help
identify babies that may have Critical
Congenital Heart Disease (CCHD). The
test is done using machine called pulse
oximeter, using a painless sensor placed
on the baby’s skin. The pulse ox test only
takes a couple of minutes and is performed
after the baby is 24 hours’ old and before
he or she leaves the newborn nursery.

20. I. What to do if the test is
positive?
 Within 2 to 3 weeks after newborn screening tests are performed,
results are sent to the baby’s doctor’s office or clinic.
 A positive result means that at least one of the tests came back
outside the normal range. Other words for a positive result are
“failing” out-of-range”, or abnormal.
 The healthcare provider will notify parents of a positive test result.
A positive result does not mean
that the baby definitely has a disease, but it indicates that further
testing and it should be performed as soon as possible.
 The results of your baby’s newborn hearing screen will be reported
to the Early Hearing Detection and Intervention (EHDI) program
of the state that baby was tested in.
 If the testing confirms that your child does have a disorder, the
doctor may refer the baby to a specialist for further evaluation a
treatment.