Update: Newborn genetic screening
Recent studies have shown that a simple blood test may be able to help prevent certain birth defects. Spina bifida, for example, could be detected by measuring the folate content of the mother’s blood. Women need a higher folate concentration to prevent neural tube defects and it is recommended that expecting mothers consume around 400 micrograms of folic acid every day. The exact ideal folate concentration in a mother’s red blood cells is yet to be determined but research has made it clear that having a higher folate concentration in the pregnant women’s blood is beneficial in preventing neural tube defects.
Organic Acid Disorders
- IVA Isovaleric Acidemia
- GA I Glutaric Acidemia Type I
- HMG 3-Hydroxy 3-Methyl Glutaric Aciduria
- MCD Multiple Carboxylase Deficiency
- MUT Methylmalonic Acidemia (Mutase Deficiency)
- 3MCC 3-Methylcrotonyl-CoA Carboxylase Deficiency
- Cbl A,B Methylmalonic Acidemia (Cbl A,B)
- PROP Propionic Acidemia
- BKT Beta-Ketothiolase Deficiency
Fatty Oxidation Disorders
- MCAD Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- VLCAD Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
- LCHAD Long-Chain L-3-Hydroxy Acyl-CoA Dehydrogenase Deficiency
- TFP Trifunctional Protein Deficiency
- CUD Carnitine Uptake Defect
Amino Acid Disorders
- HCY Homocystinuria
- CIT Citrullinemia
- ASA Argininosuccinic Acidemia
- TYR I Tyrosinemia Type I
- Hemoglobinopathies
- Hb SC-Disease Sickle-C Disease
- Hb SA S-Beta Thalessemia
Others
- BIOT Biotinidase Deficiency
- CF Cystic Fibrosis
- Congenital Heart Disease (CHD)
Do you have a question related to a condition you think was a result of medical malpractice? Contact us today at 215-238-8700.
Sources: The Pennsylvania Department of Health, Philly.com, The BMJ Online.