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Newborn screening has three different parts: Blood spot screening, which determines if a baby might have one of many serious conditions. Pulse oximetry screening, which determines if a newborn might have certain heart conditions. Hearing screening, which determines if a newborn might be deaf or hard of hearing.
The newborn blood spot test checks for: cystic fibrosis (CF) sickle cell disease (SCD) congenital hypothyroidism (CHT) phenylketonuria (PKU) medium-chain acyl-CoA dehydrogenase deficiency (MCADD) maple syrup disease (MSUD) isovaleric acidaemia (IVA) glutaric aciduria type 1 (GA1)
This test panel checks for thyroid disease, deficiency of important enzymes namely G6PD Biotinidase and for evidence of other diseases like Galactosemia, Phenylketonuria (PKU), Cystic fibrosis Congenital adrenal hyperplasia (CAH) .
Newborn screening tests may include: Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine. Congenital hypothyroidism. Galactosemia. Sickle cell disease. Maple syrup disease. Homocystinuria. Biotinidase deficiency. Congenital adrenal hyperplasia.
First, hospital staff fill out a newborn screening card with the infants vital informationname, sex, weight, and date and time of birthand the date and time of the blood collection. Part of the card consists of special absorbent paper used to collect the blood sample.
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All infants born in Michigan are screened for 50+ disorders and hearing. Shown below are the disorders currently included on the screening panel. (Fact sheets are available for some disorders.) *Disorders labeled with one asterisk were added to the NBS panel in 2005 using the tandem mass spectrometry (MS/MS) platform.
The conditions screened for include spinal muscular atrophy, cystic fibrosis, sickle cell disease and other hemoglobinopathies, endocrine diseases, inborn errors of metabolism, lysosomal storage diseases, severe combined immunodeficiencies, critical congential heart defects, and hearing loss.

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