The Importance of Screening Newborn Babies for Birth Defects

Screening for Congenital Hypothyroidism
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.

Assessing Hemoglobin Disorders in Newborns
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.

G6PD Deficiency in Newborns
G6PD deficiency is quintessentially a genetically inherited condition where the body does not have sufficient amounts of the 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.

Neonatal Jaundice
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 has been never toxic but always pathological. If not treated, the unconjugated bilirubin may result in kernicterus.

Screening for Congenital Adrenal Hyperplasia (CAH)
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.

Cystic Fibrosis in Newborns
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.

In addition to these, it is also important that newborn babies undergo thorough screening for heart related abnormalities such as valvular disorders, liver disorders such as the Gilbert Syndrome and spinal deformities.

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