Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings

Malia S. Q. Murphy,
Pranesh Chakraborty,
Jesmin Pervin,
Anisur Rahman,
Lindsay A. Wilson,
Monica Lamoureux,
Kathryn Denize,
Matthew Henderson,
Steve Hawken,
Beth K. Potter,
Julian Little and
Kumanan WilsonEmail author

Orphanet Journal of Rare Diseases201914:25

https://doi.org/10.1186/s13023-018-0993-1

Received: 10 October 2018
Accepted: 28 December 2018
Published: 30 January 2019

Abstract

Background

Newborn screening programs are essential preventative public health initiatives but are not widely available in low-resource settings. The objective of this study was to describe the frequency and nature of screen positive determinations as made by a Canadian newborn screening program in a cohort of infants born in Matlab, Bangladesh. Dried newborn cord and heel-prick blood spot samples collected as part of a validation study nested within a preterm birth research cohort were collected between January 2017 and July 2018 and analyzed in a Canadian newborn screening laboratory where the laboratory’s disease panel and screening thresholds were applied.

Results

A total of 1661 newborn samples (520 heel-prick and 1141 cord blood samples) were available for analysis. Based on the applied screening thresholds, 61 samples (22 by heel-prick and 39 by cord blood) were screen positive for conditions included in the Canadian disease panel. Congenital hypothyroidism was the most common determination for heel-prick (n = 17) and cord blood (n = 12) samples. Carriers of hemoglobinopathy variants were identified in 6.9% of both tested heel-prick and cord blood samples.

Conclusions

This study provides insight into the nature and frequency of treatable congenital conditions in a rural Bangladesh community where such data were previously unavailable. As comment to the feasibility of newborn screening in the region we confirm that screening based on cord blood sampling continues to be the most acceptable modality to parents in such settings. Acknowledged barriers include early infant discharge, which may affect the reliability of initial screening thresholds to determine disease risk. We further highlight the importance of continuing efforts in the country to identify infants with congenital hypothyroidism.