Neonatal screening for congenital hypothyroidism in Saudi Arabia: results of screening the first 1 million newborns

Al-Jurayyan, Nasir A.M.; Al-Nuaim, Abdulrahman; El-Desouki, Mahmoud; Herbish, Abdullah S. Al; Bakr, Abdullah M. Abo; Swailem, A. Al; Mazrou, Yaqoub Y. Al; Deress, Abdullah Al

doi:10.1016/0925-6164(96)00134-x

Cited by 9 publications

(5 citation statements)

References 14 publications

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“…The recall rate in the other studies decreased from 1.83% to 0.91% by raising the cutoff value from 20 to 30 mIU/L. Another multiregional study from Saudi Arabia, using cord TSH as a screening tool, reported a mean recall rate of 0.18% (range 0.05–0.3%), 20 which is comparable to our recall rate.…”

Section: Discussionsupporting

confidence: 79%

Cord blood versus heel-stick sampling for measuring thyroid stimulating hormone for newborn screening of congenital hypothyroidism

et al. 2019

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BACKGROUND: Screening for congenital hypothyroidism (CH) using cord blood or heel-stick samples is considered essential for the prevention of long-term complications CH, which include intellectual disability and slow growth.OBJECTIVE: Compare the sensitivity and specificity of cord blood and heel-stick samples for determining thyroid-stimulating hormone (TSH) levels for the detection of CH.DESIGN: Comparative diagnostic accuracy.SETTINGS: Tertiary care center in Riyadh.PATIENTS AND METHODS: The study included all infants who were delivered during the period from May 2011 to May 2013. As part of routine newborn screening, both cord blood and heel-stick samples were collected from each newborn for CH screening by measuring TSH levels. A cord TSH level was considered positive if the concentration of TSH was more than 60 mIU/L and negative if less than 30 mIU/L. Any cord TSH level between 30-60 mIU/L was considered borderline, and free T4 was measured from the same cord sample. The result was considered positive if the free T4 level was below 9 pmol/L. Heel-stick TSH levels more than 20 µU/L were considered positive. All newborns with positive results were recalled and a peripheral venous sample was taken for TSH and free T4 for confirmation.MAIN OUTCOME MEASURES: Sensitivity and specificity, positive and negative predictive values and recall rates.SAMPLE SIZE: 17 729 screened babies.RESULTS: Of 17 729 neonates screened, 7 were diagnosed as having primary CH. All confirmed cases were detected by both cord and heel-stick TSH levels: 88 cord results were positive (sensitivity 100%, specificity 99.6%, with a recall rate of 0.04%) and 305 heel-stick results were positive (sensitivity 100%, specificity 98.3%, with a recall rate of 1.68%).CONCLUSION: Both cord and heel-stick TSH testing detected all cases of CH. Cord testing was superior to heel-stick testing as the recall rate was lower. We think cord TSH testing is preferable when heel-stick is difficult or early discharge is the practice.LIMITATIONS: Retrospective; the timing of newborn screening for TSH sampling was premature.CONFLICT OF INTEREST: None.

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Section: Discussionsupporting

confidence: 79%

Cord blood versus heel-stick sampling for measuring thyroid stimulating hormone for newborn screening of congenital hypothyroidism

et al. 2019

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“…This finding is in disagreement with other local studies [23]; in Northern Saudi Arabia, in Madina Munawara, the prevalence was 1:4000, which is lower than the prevalence obtained in the present study. The present study also found a higher prevalence than another local study [22]. Furthermore, the prevalence found in our study is also higher than that reported in several international studies [3][4][5].…”

Section: Discussioncontrasting

confidence: 54%

“…With the failure of repeated testing in the peripheral blood sampling method, approximately half of the newborns with congenital thyroid hormone deficiency will be missed [20,21]. It is well known that in Saudi Arabia, the TSH screening program for CH was started earlier in 1989 [22]. When initiated, the screening program in Saudi Arabia used cord serum TSH as an indicator of CH.…”

Section: Discussionmentioning

confidence: 99%

Primary Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism in King Abdullah Hospital, Bisha, Saudi Arabia

Abbas

Tayrab

Elmakki

et al. 2020

Cureus

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“…The first Saudi national newborn screening program was for congenital hypothyroidism and was established in November 1989 (Al‐Jurayyan et al. ). The pioneering work of the Tandem Spectrometry Lab at KFSHRC on the use of electrospray in the implementation of tandem spectrometry in the analysis of various metabolites in body fluids is noteworthy.…”

Section: Genetic Services In Saudi Arabiamentioning

confidence: 99%

Genetics and genomic medicine in Saudi Arabia

Alkuraya

2014

Mol Genet Genomic Med

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Neonatal screening for congenital hypothyroidism in Saudi Arabia: results of screening the first 1 million newborns

Cited by 9 publications

References 14 publications

Cord blood versus heel-stick sampling for measuring thyroid stimulating hormone for newborn screening of congenital hypothyroidism

Cord blood versus heel-stick sampling for measuring thyroid stimulating hormone for newborn screening of congenital hypothyroidism

Primary Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism in King Abdullah Hospital, Bisha, Saudi Arabia

Genetics and genomic medicine in Saudi Arabia

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