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Pregnancy & ChildbirthWellness & PreventionTreatment & Care

Newborn Screening Tests at Woman’s Hospital

Early screening for disorders that may affect your baby’s health is vitally important. Advances in technology make it possible to screen for more conditions than ever before. In many cases, that means more conditions can be treated because they are discovered early.

The procedure is simple—a small amount of blood is taken from your baby’s umbilical cord or heel. At Woman’s Hospital, newborn screening tests for more than 40 disorders, shown in the list below.

The Acylcarnitine Profile screens for:         
Carnitine/Acylcarnitine Translocase Deficiency
Carnitine Uptake Defect
Carnitine Palmitoyl Transferase Deficiency I & II
3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency
2, 4-Dienoyl-CoA Reductase Deficiency
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Multiple Acyl-CoA Dehydrogenase Deficiency
Trifunctional Protein Deficiency
3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
Glutaric Acidemia Type I, II
Isobutyryl-CoA Dehydrogenase Deficiency
Isovaleric Acidemia
2-Methyl-3-Hydroxy Butyric Aciduria
2-Methylbutyryl-CoA Dehydrogenase Deficiency
3-Methylcrotonyl-CoA Carboxylase Deficiency
3-Methylglutaconic Aciduria Deficiency
Methylmalonic Acidemias
Methylmalonyl-CoA Mutase Deficiency
Some Adenosylcobalamin Synthesis Defects
Maternal Vitamin B12 Deficiency
Beta Ketothiolase Deficiency
Medium Chain Ketoacyl-CoA Thiolase Deficiency
Propionic Acidemia
Multiple- CoA Carboxylase Deficiency
Malonic Acidemia

The Amino Acid Profile screens for:

Arginemia
Argininosuccinic Acidemia
Citrullinemia
Homocystinuria
Hypermethioninemia
Maple Syrup Urine Disease
Phenylketonuria
Classical/Hyperphenylalaninemia
Biopterin Cofactor Deficiencies
Tyrosinemia
Transient Neonatal Tyrosinemia
Tyrosinemia Type I
Tyrosinemia Type II
Tyrosimenia Type III

Other disorders that are screened include:

Biotinidase
Galactosemia
Total Galactose
HGB Profile
Thyroid Screen
CAH

Detailed information about these disorders is available at the following websites

Genetics Home Reference, a service of the U.S. National Library of Medicine.  (Enter disorder name in the search feature)

March of Dimes
    
Louisiana Department of Health and Hospitals
Select “newborn screening” from the “Frequent Areas of Interest” drop-down menu.