Neonatal screening tests

In addition,

Neonatal screening tests:

A drop of dried blood removed (between 2. In addition, 3 days after birth) by superficial bite on the heel of the newborn and deposited on blotter paper, allows a neo-natal mass screening, at low cost and not very invasive of an increasingly important number of conditions.[1 ]It is systematically proposed with the parents’ agreement. Nevertheless, It is free in France. makes it possible to detect different pathologies: phenylcetonuria, congenital hypothyroidism, sickle cell anemia, congenital hyperplasia of the adrenals, cystic fibrosis, MCAD deficit and 7 rare diseases of intermediate metabolism [2]:

  • 3 aminoacidopathies: homocystinuria by CBS deficit, leucinosis, type 1 tyrosinemia

  • 2 organic aciduries: type 1 glutaric aciduria, isovalic aciduria

  • 2 Beta oxidation deficits: 3-hydroxyacylay-coenzymea deficit dehydrogenase of long-chain fatty acids, carnitine capture.

When a screening test is positive, additional tests are carried out to confirm the diagnosis and guide neonatal screening tests therapeutic decisions. [3]

Are you well informed about these different screening tests on Buvard? Discover the recent advances in neonatal screening thanks to this quiz in 5 questions

neonatal screening tests — Neonatal screening tests: A drop of dried blood removed (between 2. 3 days after birth) by superficial bite on the heel of the newborn and deposited on blotter paper, allows a neo-natal mass screening, at low cost and not very invasive of an increasingly important numb.

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