Comprehensive Newborn Screening Program: ARAMCO Experience, The National Need and Recommendations

Abu-Osba, Yousef K.; Mallouh, Ahmad A.; Salamah, Mouhamed; Hann, Richard W.; Thalji, Amin; Hamdan, Jahed A.; Sa'di, Abed Alrahman

doi:10.5144/0256-4947.1992.235

Cited by 25 publications

(14 citation statements)

References 14 publications

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“…We found the incidence of confirmed infants with CH in our series, 1:3417, to be comparable to what has been reported by Abu-Osba et al 4 from the Eastern Province of Saudi Arabia and consistent with other reports from Europe and North America. 1,[10][11][12][13][14] However, if we consider infants with positive cord screening in whom confirmation was not possible, the incidence will be even higher at 1:2836.…”

Section: Discussionsupporting

confidence: 81%

“…6,[10][11][12][13][14][15] Furthermore, our experience has since shown that the successful implementation of any screening program depends not only on the efficient and comprehensive collection of specimens, transport and laboratory processing but also on access to patients to ensure prompt recall for further testing and therapy. 1,4,6 Variable degrees of enthusiasm among medical teams, difficulties in locating suspicious cases with occasional lack of addresses and telephone numbers, and poor compliance from parents are among the difficulties. Adequate health awareness and education of parents are important for cooperation in recall, compliance and subsequent life-long therapy and follow-up.…”

Section: Discussionmentioning

confidence: 99%

“…1 In Saudi Arabia, individual neonatal screening programs for CH have been established in several hospitals. [2][3][4][5] As the main bulk of deliveries take place at Ministry of Health (MOH) hospitals, a pilot project was undertaken at MOH hospitals in Riyadh and showed a high incidence of 1 in 2666. 6 In light of this, in 1989 the MOH initiated a national screening program for CH which covered all 19 health regions.…”

Section: Accepted For Publication 2 July 1995 Received 3 May 1995mentioning

confidence: 99%

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Neonatal Screening for Congenital Hypothyroidism in Riyadh: Analysis of Six Years' Experience

Al-Jurayyan

Al-Nuaim

Redha³

et al. 1996

Ann Saudi Med

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The regional screening program for congenital hypothyroidism (CH) in Riyadh Province was started as a pilot study in December 1988. By September 1990, the program covered all deliveries at the MiniPstry of Health (MOH) and King Saud University hospitals. The program utilizes cord serum thyroid-stimulating hormone (TSH) with a low recall rate of 0.1%. The average cost per specimen was SR 12 (US$ 3.20). Among 283,647 infants screened, 83 infants were confirmed to have CH (incidence 1:3417). In 17 infants, however, the diagnosis was not confirmed due to difficulties in recall. Eleven infants with cord serum TSH of more than 100 mU/L proved to be clinically and biochemically euthyroid at recall. Three of these were secondary to maternal propylthiouracil (PTU) therapy. The female to male ratio was 1.5:1. The majority of infants lacked clinical symptoms and signs of hypothyroidism. Thyroid scans showed the most common etiology to be thyroid ectopy (50%), followed by dyshormonogenesis (26%) and athyrosis (24%). Although there was no significant difference in the mean cord T 4 values among the different groups, the mean T 4 value at recall in the athyrotic group was significantly (P <0.001) lower than the cord results (14.8 versus 62.7) and that is of recall for the ectopic and dyshormonogenesis groups (14.8 versus 47.0 and 51.3 respectively). There was no significant difference in the mean TSH among the different groups in the cord and recall samples. Skeletal maturation was more delayed in the athyrotic group. The mean age at the time of recall was 16.4 days (range 4 to 64), and the mean age at the start of therapy was 17.8 days (range 5-64).

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Section: Discussionsupporting

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Section: Accepted For Publication 2 July 1995 Received 3 May 1995mentioning

confidence: 99%

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Neonatal Screening for Congenital Hypothyroidism in Riyadh: Analysis of Six Years' Experience

Al-Jurayyan

Al-Nuaim

Redha³

et al. 1996

Ann Saudi Med

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“…1 Studies conducted in some parts of the Middle East suggest that the incidences of inborn errors of metabolism are higher here than anywhere else in the world, due to the more common occurrence of consanguineous marriages. [2][3][4] Over the last two decades, liquid chromatography tandem mass spectrometry (LC-MS/MS) has become the predominant technique for analyzing dried blood spots on Guthrie filter cards, to screen for inborn errors of metabolism, including amino acid, fatty acid, and organic acid disorders. 5,6 These biomarkers in the blood spot are susceptible to environmental conditions, such as heat and humidity.…”

Section: Introductionmentioning

confidence: 99%

Short-Term Stability of Amino acids and Acylcarnitines in the Dried Blood Spots Used to Screen Newborns for Metabolic Disorders

Golbahar¹,

Altayab²,

Carreon³

2014

J Med Screen

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Objective: Tandem mass spectrometry is increasingly used in the Middle East in newborn screening for inborn errors of metabolism using dried blood spots. The sensitivity and specificity of this system for analyzing fatty and amino acids, screening for more than 40 metabolic conditions, is known. However, the short term stability of acylcarnitines and amino acids in dried blood spots in extreme heat and humid conditions is not well documented. We examined the short term effect of heat and humidity on the levels of 7 amino acids and 10 acylcarnitines used in newborn screening for inherited metabolic disorders. Methods: Dried blood spots were exposed with humidity <30% to temperatures of 4 C, room temperature, 37 C, and 45 C, and also with humidity >70% at 37 C and 45 C. Amino acids and acylcarnitines in the dried blood spots were analyzed by tandem mass spectrometry. Results: During the eight days of the study in high temperature and high humidity storage, most acylcarnitines and amino acids lost almost 50% of initial concentration. After eight days' exposure at 37 C and 45 C with humidity >70%, methionine was determined to be the most sensitive, and phenylalanine and leucine were the least sensitive amino acids. At 37 C with humidity >70% C6 was the most sensitive and free carnitine (C0) was the least sensitive acylcarnitine; at 45 C with humidity >70% C16 was the most sensitive and C0 was the least sensitive. Conclusion: Low humidity and low temperature conditions are required for transportation and storage of dried blood spots.

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“…

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.

…”

mentioning

confidence: 99%

Neonatal Screening Nationwide?

Milner

1992

Ann Saudi Med

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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 ...

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Comprehensive Newborn Screening Program: ARAMCO Experience, The National Need and Recommendations

Cited by 25 publications

References 14 publications

Neonatal Screening for Congenital Hypothyroidism in Riyadh: Analysis of Six Years' Experience

Neonatal Screening for Congenital Hypothyroidism in Riyadh: Analysis of Six Years' Experience

Short-Term Stability of Amino acids and Acylcarnitines in the Dried Blood Spots Used to Screen Newborns for Metabolic Disorders

Neonatal Screening Nationwide?

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