NEONATAL

Newborn screening is the practice of checking babies soon after birth for health problems. It is an established worldwide public health practice and helps keep newborn babies healthy.

GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY G6PD

is an enzyme essential for maintaining the structure of the proteins in the membrane of the red blood cells in the blood. Infants with G6PD deficiency are prone to developing rapid red cell breakdown (haemolysis) resulting in severe jaundice in the first few days of life. Severe jaundice, if untreated, can result in brain damage and hearing impairment.. Necessary treatment with phototherapy is started if they develop jaundice.

Overall, 16 in 1,000 babies are affected with G6PD deficiency. The incidence is higher among the Chinese, with male babies significantly more affected than girls. Detection can prevent exposure to triggers, such as drugs that may cause red blood cells to break down.

G6PD deficiency is a lifelong problem, and certain herbal preparations and Western medicines like anti-malarial drugs, together with infections and exposure to moth (naphthalene) balls, should be avoided in all patients. Parents must tell their doctor that their child has G6PD deficiency so he would not be given these drugs.

CONGENITAL HYPOTHYROIDISM

In the lower front of the neck is the thyroid gland, which produces the thyroid hormones. These hormones are essential for growth, development and proper functioning of the brain. The main hormone of the thyroid gland is known as thyroxin, which also goes by the name T4. Congenital hypothyroidism, characterized by an inadequate supply of thyroid hormones, affects one child per 2.500 to 3.000 births.

If untreated, babies with under active thyroids (hypothyroidism) will experience symptoms like constipation, enlarged tongue, swollen eyes, poor growth and dry skin within a few weeks of their birth. The most damaging effect of this disorder is to the brain - it can result in delayed development and mental retardation. Early detection and intervention can ensure normal mental and physical development of the child.

HEARING TEST

Newborn babies can see and hear at birth. Hearing is important for speech, language, intellectual, social and emotional development, but one out of 1,000 babies are born with severe hearing loss. Many are born to parents with normal hearing and may not have any risk factors for hearing impairment. Often, they are not diagnosed until the parents' notice that the child is not speaking or responding to sound. Delays in diagnosis lead to delays in treatment and delays in establishing effective communication with the child. This in turn can hinder the social and educational development of the child. This is why undergoing the Universal Newborn Hearing Screening, in which a special hearing test is done soon after birth to screen for hearing loss, is recommended.

For hearing-impaired children, early detection followed by appropriate intervention will minimize the harmful effects on the child's development. Without a screening test, this impairment may not be detected until much later. Early diagnosis and early treatment do make a difference. A child with severe hearing loss can develop language at a comparable rate if he is identified by six months of age and receives early treatment.

THE METABOLIC SCREEN

The metabolic screen tests newborn babies for a group of disorders known as inborn errors of metabolism (IEMs). These IEMs reflect disorders involving abnormalities in the breakdown of fats or proteins.

The metabolic screen is performed between the second and the fifth day after birth, when the baby has established a full oral milk/breast milk intake. It is performed by trained staff and involves taking a few drops of blood from the baby. This is usually done via a light prick on the baby's heel. A few drops of blood are then gently squeezed onto a special filter paper, with the blood specimen then sent to a laboratory for testing. Over 35 different IEMs can be detected using this new test.

If the baby's test results are abnormal, it means the baby has a high risk of having an IEM. The baby will then be referred to a specialist paediatrician for confirmatory testing and treatment. A baby with an IEM will have problems breaking down certain nutrients such as fats or proteins. If undiagnosed or untreated, many suffer early death or permanent ill health. The screening tests help identify newborns with these IEMs before any symptom of the disease surfaces. Early diagnosis and treatment greatly reduces the risk of death and permanent health problems.

For certain children who are at a high risk of genetic disorders, additional tests for diseases such as Duchenne's Muscular Dystrophy and chromosomal abnormalities may be recommended by the attending physician.

A small proportion of parents are reluctant to have their child screened as they are concerned about the cost, while others perceive that they are at low risk and hence opt out of screening tests.

Very rarely do parents opt out of the screening tests. When they do, the reason for that is generally due to lack of education and knowledge. However, even those who opt out initially tend to agree for the tests to be carried out after the doctor or nurse has counseled them on the need for them.