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Pregnancy and Childbirth

Use these links to jump directly to your topic of interest in Pregnancy and Childbirth:

Pregnancy: Pregnancy (General) | Discomforts | Drugs | Exercise | Later-Age Pregnancy | Nutrition | Pregnancy Loss | Prenatal Tests | Risks to Pregnancy | Teenage Pregnancy

Childbirth: Birthing Options | Childbirth (Labor and Delivery) | Newborn Screening Tests | Multiple Births | Premature Birth | Postpartum Depression

Other Topics: General Pregnancy and Childbirth | Preparing for Pregnancy


Newborn Screening Tests

General Information
Newborn Screening Tests:Nemours Foundation
Newborn Screening Tests:March of Dimes
See also Ears, Nose and Throat, Screening for Hearing Disorders
Newborn Screening:MedlinePlus
National Newborn Screening Program
National Newborn Screening and Genetics Resource Center (NNSGRC)
California Newborn Screening Program
California Newborn Screening Program:California Department of Health Services


Index to Disorders in National Newborn Screening Program
Endocrine Disorders
CAH:Congenital adrenal hyperplasia
CH: Congenital hypothyroidism
Hemoglobin Disorders
Hb S/S: Sickle cell disease
Hb S/A: Beta thalassemia
Hb S/C: Hemoglobin C disease
Other variant hemoglobinopathies (including Hb E)
G6PD: Glucose 6 phosphate dehydrogenase
Infectious Diseases
HIV: Human immunodeficiency virus
TOXO: Toxoplasmosis
Metabolic, Amino Acid Disorders
ARG: Arginemia (Arginase deficiency)
ASA: Argininosuccinate acidemia
BIOPT-BS: Defects of biopterin cofactor biosynthesis
BIOPT-RG: Defects of biopterin cofactor regeneration
CPS: Carbamoylphosphate synthetase
CIT I: Citrullinemia type I (Argininosuccinate synthetase)
CIT II: Citrullinemia type II
HCY: Homocystinuria (cystathionine beta synthase)
HHH: Ornithine translocase deficiency
H-PHE: Benign hyperphenylalaninemia
MET: Hypermethioninemia
MSUD: Maple syrup urine disease (branched-chain ketoacid dehydrogenase )
NKH: Nonketotic hyperglycinemia
PKU: Phenylketonuria/ hyperphenylalaninemia
PRO: Prolinemia
TYR-I: Tyrosinemia Type I
TYR-II: Tyrosinemia Type II
TYR-III: Tyrosinemia Type III
Metabolic, Carbohydrate Disorders
GALT: Transferase deficient galactosemia (Classical)
GALE: Galactose epimerase
GALK: Galactokinase
Metabolic, Fatty Acid Oxidation Disorders
CACT: Carnitine acylcarnitine translocase
CPT-Ia: Carnitine palmitoyltransferase Ia
CPT-II: Carnitine palmitoyltransferase II
CUD: Carnitine uptake defect (Carnitine transporter deficiency)
De-Red: Dienoyl-CoA reductase
EMA: Ethylmalonic encephalopathy
GA-II: Glutaric acidemia type 2
LCHAD: Long-chain hydroxyacyl-CoA dehydrogenase
MAL: Malonic acidemia (Malonyl-CoA decarboxylase)
MCAD: Medium-chain acyl-CoA dehydrogenase
MCKAT: Medium-chain ketoacyl-CoA thiolase
M/SCHAD: Medium/Short chain L-3-hydroxyacyl-CoA dehydrogenase
SCAD: Short-chain acyl-CoA dehydrogenase
TFP: Trifunctional protein
VLCAD: Very long-chain acyl-CoA dehydrogenase
Metabolic, Organic Acid Disorders
2M3HBA: 2-Methyl-3-hydroxy butyric aciduria
2MBCD: 2-Methylbutyryl-CoA dehydrogenase
3MCC: 3-Methylcrotonyl-CoA carboxylase
3MGA: 3-Methylglutaconic aciduria
5-OXO: 5-oxoprolinuria (pyroglutamic aciduria)
BKT: Beta ketothiolase
GA-I: Glutaric acidemia type I
HMG: 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
IBD: Isobutyryl-CoA dehydrogenase
IVA: Isovaleric acidemia
MCD: Multiple carboxylase (Holocarboxylase synthetase )
MUT: Methylmalonic Acidemia (Methylmalonyl-CoA mutase Deficiency)
CBL A,B: Methylmalonic acidemia (Cbl A, B)
CBL C,D: Methylmalonic acidemia with Homocystinuria (Cbl C,D)
PROP: Propionic acidemia (Propionyl-CoA carboxylase)
Metabolic, Other
BIO: Biotinidase
Other Genetic Conditions
CF: Cystic fibrosis
Hearing loss


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