Newborn Screenings

The first newborn screenings in WV were administered in 1965 when three disorders were tested for.  Since that time, WV has increased the number of disorders screened for to 34.

Newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection and diagnosis can lead to to better treatment options and improved patient outcomes.

Between 24 hours and 7 days old, all newborns are required by state law to be screened. The screening consists of a heel stick to collect a blood sample as well as a hearing screening completed by qualified professionals. These results are sent to the physician or clinic chosen by the parents.

WV screens for the following:

Amino Acid Metabolic Disorders 

PKU – Phenylketonuria  

MSUD - Maple Syrup Urine Disease  

HCY - Homocystinuria 

CIT - Citrullinemia  

ASA -Argininosuccinic Acidemia  

TYRI - Tyrosinemia February 

Organic Acid Metabolism Disorders 

IVA - Isovaleric Acidemia  

GAI – Glutaric Acidemia  

HMG 3 - Hydroxy 3 Methylglutaric-CoA  Lyase   

MCD - Multiple Carboxylase Deficiency  

MUT - Methylmalonic acidemia due to Mutase deficiency  

Cbl A,B – Methylmalonic acidemia cbl a and cbl b forms   

3MCC - 3 Methylcrotonyl - COA Carboxylase deficiency  

PROP - Propionic acidemia 

BKT - Beta - Ketothiolase deficiency  

Fatty Acid Oxidation Disorders 

MCAD - Medium - Chain acyl - CoA dehydrogenase deficiency  

VLCAD - Very Long Chain acyl - CoA dehydrogenase deficiency  

LCHAD - Long - Chain 3-OH acyl - CoA dehydrogenase deficiency   

TFP - Trifunctional protein deficiency  

CUD - Carnitine uptake deficiency  

Hemoglobinopathies Hemoglobin - Sickle Cell Anemia  

Hemoglobin - Hb - Thalassemia  

Hemoglobin - Hb disease (C, D, E)4 

Others 

CH - Congenital hypothyroidism 

BIOT - Biotinidase deficiency 

CAH - Congenital adrenal hyperplasia  

GALT - Galactosemia  

HEAR - Hearing loss  

CF - Cystic Fibrosis 

CCHD- Critical Congenital Heart Disease

SCID-Severe Combined Immunodeficiency Disease 

SMA-Spinal Muscular Atrophy

XALD-Adrenoleukodystrophy 

SUAC-Tyrosinemia Type 1 

More in-depth information on these conditions and on newborn screenings in general can be found here on WV DHHR OMCFH's page.