24 Jul 2013, BioSpectrum Bureau , BioSpectrum
Catherine (Kate) Middleton, the Duchess of Cambridge, has given birth to a baby. And while this may be one-of-the most important development that the royal family has witnessed over the past few months, the incident has attracted the attention of the entire globe.
Although the baby is born with a silver spoon in its mouth (might have even been born with the Crown Jewels in its mouth, but who knows such things); it is ironical that the infant would utilize the same life science technologies that a non-royal person would need. However, there are many precautionary new-born life science tests that the royal family can conduct (and lets hope that they have already done it) in order to ensure that the third heir to the throne grows up to be a healthy individual.
Newborn screening is the practice of testing every infant after birth for a list of conditions that are treatable, but not clinically evident at birth. The first newborn screening was Dr conducted by Dr Robert Guthrie during the early 1960s, when he used a blood test to determine if the infant had a metabolic disorder called phenylketonuria (PKU).
Even today most screening techniques use blood as a medium of analyte. The other modes of diagnosis include hearing screening (use of soft speaker in baby's ear to check how your baby responds to sound) and heart screening (a test called pulse oximetry is used that checks the amount of oxygen in your baby's blood by using a sensor attached to his finger or foot). Some of the tests that can be used to screen diseases and disorders in a newborn are tandem mass spectrometry (which can screen more than 20 inherited metabolic disorders with a single drop of blood);
The health conditions for which a newborn can be screened include, organic acid metabolism problems like Isovaleric acidemia (IVA), Glutaric acidemia (GAI), Hydroxymethylglutaric aciduria (HMG), Multiple carboxylase deficiency (MCD), Methylmalonic acidemia, mutase deficiency (MUT), 3-methylcrotonyl-CoA carboxylase deficiency (3MCC), Methylmalonic academia, CB1 A and CBl B forms (Cbl A,B), Propionic acidemia (PROP), Beta-ketothiolase deficiency (BKT); fatty acid oxidation problems like Medium-chain acyl-CoA dehydrogenase deficiency (MCAD), Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), Trifunctional protein deficiency (TFP), and Carnitine uptake defect (CUD).
Furthermore, several other disorders that can be screened include, amino acid metabolism problems like Phenylketonuria (PKU), Maple syrup urine disease (MSUD), Homocystinuria (HCY), Citrullinemia (CIT), Argininosuccinic acidemia (ASA), Tyrosinemia type I (TYR I); hemoglobin problems like Sickle cell anemia, Hb S/beta-thalassemia (Hb S/Th), Hb S/C disease (Hb S/C); and other problems such as Congenital hypothyroidism (HYPOTH), Biotinidase deficiency (BIO), Congenital adrenal hyperplasia (CAH), Galactosemia (GALT), Hearing loss (HEAR), Cystic fibrosis (CF), Severe combined immunodeficiency (SCID) and Critical congenital heart disease (CCHD).
It is every human's nature to copy the actions of those individuals who he thinks is elite. Lets hope that the royal family conducts the above-mentioned tests (if they have not already done it) and this leads to emergence of a new life science trend, that of ‘infant screening'.