Which disease can doctors screen by performing a blood test on newborns?

Newborn screening began in the 1960s when scientist Robert Guthrie, MD, PhD, developed a blood test that could detect whether newborns had the metabolic disorderA disorder or defect in the way the body breaks down food or other products (metabolism), phenylketonuria (PKU).

What does the newborn blood test screen for?

Newborn screening tests look for developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to be taken before symptoms develop. Most of these illnesses are very rare, but can be treated if caught early.

What diseases are babies tested for at birth?

What are the most common newborn screening tests?

  • Congenital Hypothyroidism. …
  • Phenylketonuria (PKU) …
  • Galactosemia. …
  • Sickle Cell Disease. …
  • Maple Syrup Urine Disease. …
  • Homocystinuria. …
  • Biotinidase Deficiency. …
  • Congenital Adrenal Hyperplasia.

What tests are done on baby after birth?

The Apgar test is the first screening most newborns are given; the scores — rated on a scale of 0 to 10, and taken one minute and again five minutes after birth — reflect baby’s general condition. They’re based on observations made in five assessment categories: appearance, pulse, reflexes, muscle tone and breathing.

What does the Guthrie test look for?

Enter Dr Robert Guthrie. Dr Guthrie was an American microbiologist who had a niece with PKU. In 1960 he developed the dried blood spot test (also known as the heel prick test) as a way of screening all babies for PKU shortly after birth.

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What is the meaning of Apgar?

Apgar stands for “Appearance, Pulse, Grimace, Activity, and Respiration.” In the test, five things are used to check a baby’s health. Each is scored on a scale of 0 to 2, with 2 being the best score: Appearance (skin color) … Respiration (breathing rate and effort)