Neonatal Screening Nationwide?

Abstract

In the first article of this issue Abu-Osba et al [1] describe their experience in the establishment and implementation of a neonatal screening program which has now been running for more than a decade at the Arabian American Oil Company (ARAMCO). The conditions included were hypothyroidism and phenylketonuria (PKU) which are commonly screened for in other countries and also abnormal hemoglobins, glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and blood group incompatibility which were of particular interest to the study population.The principle of neonatal screening is a universally accepted dogma in the philosophy of modern health care planning which emphasizes prevention as being more important than cure. While it is easy for the decision makers to accept national screening as a desirable service, it is more difficult for them to assign a priority to this package of health care among the competing bids of both high and low technology projects that will improve the well-being of the nation. One of the problems that will keep neonatal screening shuffled towards the bottom of the project pile is communication. The successful implementation of any screening program depends not only on efficient and comprehensive collection of specimens, transport and laboratory processing but also on access to the patient, or in our example, the parents for prompt recall for further testing or therapy as indicated. In the ARAMCO study, cord blood was used for thyroid and hematological screening but not for phenylketonuria where postnatal feeding needs to be established and a heelprick sample collected at 48 hours of age. Such an approach might not be feasible in some hospitals where it is routine for mother and child to be discharged within hours rather than days of delivery. This may not be so serious a problem for Saudi Arabia as it first seems. The prevalence of hypothyroidism in the ARAMCO study was approximately 1/3500 livebirths, similar to that reported in studies carried out in other countries but no case of phenylketonuria was detected, raising the possibility that classical PKU is less common in the Kingdom than elsewhere. If this is true, omission of PKU from a national screening program for logistic reasons would have less adverse societal impact than might be expected. Discounting the small but unknown fraction of births that take place without recognized professional attention there is still the chasm between the client and health care giver which every hospital doctor in the Kingdom has experienced when he wants to find a patient in a hurry. In this respect circumstances favored the ARAMCO workers who had easy access to all their clientele whose whereabouts were stored on computer.The association of demographic and medical information enabled Abu-Osba et al [1] to make analyses of possible prevalence of different conditions by the place of origin of the family which has implications beyond those associated with neonatal screening per se. There was a tenfold change in the incidence of all abnormal hemoglobins ...