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Re-defining NBS Disorders

Wisconsin Newborn Screening Laboratory Newsletter: Re-defining NBS Disorders

Newborn Screening Newsletter               No. 59

 

July 2005                 Re-defining NBS Disorders

  

This newsletter is to announce an increase in the number of disorders identified by the Wisconsin Newborn Screening Program. The current official list of 26 disorders will be increased to 48 effective August 1, 2005 . The good news is that the increase is primarily related to how the disorders are counted. This change will not require any additional resources in the newborn screening laboratory and will not change the current blood collection procedure. Most of the 22 "new" disorders are in the fatty acid oxidation (FAO) and organic acidemia (OA) class that are detected by tandem mass spectrometry (MS/MS) technology. When Wisconsin became one of the first states to implement MS/MS testing in 2000, the Newborn Screening Program's advisory committees decided to screen for the predominant FAO and OA disorders detectable by MS/MS. However, it was recognized that a number of additional disorders could be identified simultaneously because of the way MS/MS measures dozens of individual chemical "markers." Our five-year experience with MS/MS testing in Wisconsin, and the experience of other state newborn screening programs that have recently implemented MS/MS technology have led us to conclude that the number of disorders identified by MS/MS technology should be re-defined to provide the most complete information to health care providers and families in Wisconsin. In addition to increasing the number of FAO and OA disorders reported, a decision was made to define the hemoglobinopathy disorders screened for as sickle cell disease, sickle-beta thalassemia, hemoglobin S/C disease and variant hemoglobins (HbC, HbD, HbE, etc.) and to list the three types of tyrosinemia (I, II, III) as separate disorders. The 48 "official" disorders now screened for in Wisconsin are listed below. In order to reach as many interested professionals as possible, we ask you share this newsletter with all the medical staff in your hospital or clinic.

It is available in downloadable form on our State Lab website at: /newborn .

 

On a related issue, the US Department of Health and Human Services (HHS) will shortly release a recommendation that all states screen for a minimum uniform panel of 29 conditions. The panel includes 28 inheritable disorders detected through testing of the newborn screening dried blood specimen plus the hospital-based hearing screening that is performed on the baby before discharge. The March of Dimes (MOD) has already endorsed these 29 conditions as the minimum number for which all state should screen and will soon grade each state program with respect to compliance with this uniform panel. The 29 disorders on the HHS uniform panel identified through testing the dried blood specimen are highlighted with a " * " in the table. Wisconsin is, and has been, in complete compliance with the recommended uniform panel.

 

Wisconsin physicians and parents can be assured that the Wisconsin Newborn Screening Program is one of the most complete and comprehensive in the country. Our clear emphasis is on maintaining this position and providing Wisconsin health care providers and families with the most up-to-date test data that can be obtained through screening. The program is admirably served and supported by physician consultants with contributions from the staff at the Department of Health and Family Services, State Laboratory, hospitals, and concerned parents. These dedicated professionals and parents provide the best possible care for every newborn in the state of Wisconsin .

 

Sincerely,

 

Ronald H. Laessig, PhD

Murray Katcher, MD, PhD .

Director, State Laboratory of Hygiene
Professor Population Health Sciences  and Community Health


Chief Medical Officer for Family State Maternal and Child Health
Director Wisconsin Division of Public Health

 

Gary L. Hoffman

Newborn Screening Laboratory Manager

Wisconsin State Laboratory of Hygiene  

 

Wisconsin Newborn Screening Disorders - 2005

 

Argininosuccinic Acidemia *  Long Chain 3-Hydroxyacyl-CoA Dehydrogenase *
Biotinidase Deficiency *  Malonyl-CoA Decarboxylase Deficiency
Carnitine/Acylcarnitine Translocase Deficiency  Maple Syrup Urine Disease *
Carnitine Palmitoyltransferase Deficiency Type II Medium Chain Acyl-CoA Dehydrogenase Deficiency *
Carnitine Uptake Defect *  Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Citrullinemia * Medium/Short Chain Hydroxylacyl-CoA Dehydrogenase
Citrullinemia (type II)  2-Methylbutyryl-CoA Dehydrogenase Deficiency
Congenital Adrenal Hyperplasia * 3-Methylcrontonyl-CoA Carboxylase Deficiency*
Cystic Fibrosis * 3-Methylglutaconyl-CoA Hydratase Deficiency
Congenital Hypothyroidism * 2-Methyl-3-Hydroxybutryrl-CoA Dehydrogenase
2,4-Dienoyl-CoA Reductase Deficiency  Methylmalonic Acidemia Cbl A and Cbl B *
Galactosemia *  Methylmalonic Acidemia Cbl C and Cbl D
Glutaryl CoA Dehydrogenase Deficiency Type I *  Methylmalonic Acidemia, Mutase Deficiency *
Glutaryl CoA Dehydrogenase Deficiency Type II  Mitochondrial Acetoacetyl-CoA Thiolase Deficiency *
 Hearing Screening*   Multiple CoA Carboxylase Deficiency*
Hemoglobin S-Beta Thalassemia * Propionyl-CoA Carboxylase Deficiency *
Hemoglobin S/C Disease * Phenylketonuria * +
Hemoglobin Variants (HbE, HbD, HbC) Short Chain Acyl-CoA Dehydrogenase Deficiency
Homocystinuria *  Sickle Cell Disease *
Hypermethioninemia Trifunctional Protein Deficiency *
Hyperphenylalaninemia Tyrosinemia Type I *
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency * Tyrosinemia Type II
Isobutyryl-CoA Dehydrogenase Deficiency Tyrosinemia Type III
Isovaleryl-CoA Dehydrogenase Deficiency *  Very Long Chain Acyl-CoA Dehydrogenase Deficiency *

* US Department of Health and Human Services uniform panel. Endorsed by the March of Dimes.

+ Includes defects of biopterin cofactor of regeneration and biosynthesis