Screenings of newborn babies are designed to pursue early recognition of certain disorders with an aim to prevent serious consequences in the future. However, it is important to know that these screenings are not necessarily confirmatory diagnosis and may demand further investigations.
2. Screenings of newborn babies are designed to pursue early
recognition of certain disorders with an aim to prevent serious
consequences in the future. However, it is important to know
that these screenings are not necessarily confirmatory
diagnosis and may demand further investigations. . It is also
important that necessary screenings are conducted against
hearing loss and to check that all the organs have developed in
the correct position.
Introduction
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3. It is important to note that babies born with this
condition tend to have a normal appearance and no
distinct physical signs. This condition in neonates is
almost always overlooked. A delayed diagnosis often
results in mental retardation and increased severity of
congenital hypothyroidism. The goal of early detection
and initial therapies for this condition is to minimize
neonatal central nervous system exposure to
hypothyroidism. This can be achieved by regulating
the thyroid function.
Screening for Congenital
Hypothyroidism
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4. The congenital hemoglobin disorder is a genetic
disorder that cannot afford ignorance. Hemoglobin E
(Hb E) is one of the most commonly detected versions
of the disorder. Even though the existence of the
disease in its original form, if co-present with beta-
thalassemia, can prove to be fatal for the child.
Assessing Hemoglobin Disorders
in Newborns
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5. G6PD deficiency is quintessentially a genetically inherited
condition where the body does not have sufficient amounts of
enzyme glucose-6-phosphate dehydrogenase (G6PD). This
enzyme essentially helps in the normal function of red blood
cells. If not diagnosed early enough, its deficiency can cause
hemolytic anemia once the infant is exposed to certain foods,
medications and infections.
G6PD Deficiency in Newborns
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6. Jaundice in newborns is detectable by testing the serum bilirubin
levels. This condition is known to occur in about 60% of term
infants and 80% of the pre-term infants. Unconjugated
hyperbilirubinaemia can be potentially toxic. However, this may
be pathological or physiological. On the other hand, conjugated
hyperbilirubinaemia is never toxic but always pathological. If not
treated, the unconjugated bilirubin may result in kernicterus.
Neonatal Jaundice
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7. This condition is typically a genetically inherited condition that
impacts the adrenal glands of the newborn. These glands are
responsible to make a number of hormones that are important for
the regular functioning of the body. Infants with CAH are unable
to generate enough cortisol and are born with a number of
physical changes. For instance, girls may be born with external
reproduction organs and may appear more masculine than
deemed conventional.
Screening for Congenital Adrenal
Hyperplasia (CAH)
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8. One of the most common life threatening genetic disorders in
newborns; an infant with Cystic Fibrosis has a faulty gene. This
gene is responsible for the movement of salt (sodium chloride) in
and out of some cells. This condition can result in the clogging of
the lungs and subsequent rise in breathing disorders among
children. Children with cystic fibrosis may also have problems
with growth and digestion.
Cystic Fibrosis in Newborns
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9. GET IN TOUCH WITH US
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Meenakshi Speech &
Hearing Clinics (P) Ltd.
27, Babar Road, Bengali Market,
Cannaught Place, New Delhi,
DL 110001, India
Tel. : +91 - 11 - 41001995
Mob. : +91 - 9910203852
