The Jaina Doctrine of Karma And The Science Of Genetics: Early Dignosis And Treatment - Screening Of Newborn Infants

We have today a long list of screening test for the early diagnosis of genetic abnormalities—sex chromosome abnormalities, congenital dislocation of hip, PKU, congenital hypothyroidism, sickle cell disease, cystic fibrosis, Duchenne muscular dystrophy, congenital adrenal hyperplasia, G6PD deficiency etc.

Neonates should be routinely examined for cogenital abnormalities, particularly dislocation of the hip, which can be simply corrected at this stage. Bio-chemical screening of newborn infants was first used for PKU in 1966. Heel-prick blood samples are usually collected at 5-10 days after birth, several drops of blood are collected on filter paper (the guthrie card) which is sent to screening laboratory.
Screening of new borns for congenital hypothyroidism is carried out in most developed countries. Sickle cell disease can be detected cheaply and reliably by hemoglobin electrophoresis using guthrie blood spots. Neonatal screening for cystic fibrosis is based on the measurement of immunoreactive trypsin in guthrie blood spots.