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Newborn Screening for Metabolic Disorders

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Newborn Screening for Metabolic Disorders

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Questions and Answers

What is the purpose of early detection of metabolic or genetic diseases in newborns?

To conduct genetic counseling

To ensure timely vaccinations

To promptly initiate medical treatment (correct)

To enforce dietary restrictions

Which of these metabolic disorders is NOT mentioned in the provided content?

Congenital hypothyroidism (CH)

Maple syrup urine disease (MSUD) (correct)

Phenylketonuria (PKU)

Congenital adrenal hyperplasia (CAH)

When should newborn screening be ideally performed?

Immediately after the baby is born

Before the baby is one month old

Within 48 hours or at least 24 hours from birth (correct)

Within the first week of birth

What method is used for newborn screening according to the text?

Heel prick method Signup and view all the answers

What causes congenital hypothyroidism?

Reduced production of both T4 and T3 Signup and view all the answers

What is the main method for detecting glucose-6-phosphate dehydrogenase deficiency (G6PD) in newborns?

Heel prick method Signup and view all the answers

Which metabolic disorder involves the inability to metabolize galactose properly?

Galactosemia Signup and view all the answers

Which gland is affected in congenital hypothyroidism?

Thyroid gland Signup and view all the answers

What is the primary concern if a newborn is not screened for metabolic disorders in time?

Potential metabolic crises Signup and view all the answers

What is the minimum drying time mentioned for the absorbent card used in the heel prick method?

Four hours Signup and view all the answers