Neonatal genetic screening

The question of whether genetic screening should be voluntary or mandatory is controversial. So is the goal of the screening— whether to detect afflicted individuals or carriers. Screening can be performed at various life stages, such as prenatal, neonatal, newborn, or premarital. 

As part of a standard neonatal screen, an infant is diagnosed with a loss of function genetic defect in the enzyme phenylalanine hydroxylase. Defects in this enzyme can result in a condition known as phenylketonuria (PKU), which results from the toxic effects of phenylalanine derived phenylketones. Fortunately, this condition can be managed by regulating the amount of phenylalanine provided in the diet. Which of the following nonessential amino acids will need to be supplied in the diet of this infant ... 

Greenberg CR, et aL Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Memitoba and northwestern Ontario. Can Mol Genet Metab. 2002 75(l) 70-8. 

Chace DH, Kalas TA, and Naylor EW (2002) The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annual Review of Genomics and Human Genetics 3 17- 5. 

CIEF has been employed for separations of many proteins, recombinant proteins, monoclonal antibodies, and protein glycoforms. The most widely used method employing isoelectric focusing is the neonatal determination of hemoglobin variants for the screening of genetic disorders. 

PKU is a genetic disorder characterised by deficient metabolism of phenylalanine, resulting in the accumulation of phenylalanine and the ketone, phenylpyruvate. Neonatal screening (recently improved by the introduction of tandem mass spectrometry) for PKU assists diagnosis and treatment, which reduces the risk of mental retardation associated with this disorder. 

---