Expanded New Born Screening (eNBS) Panel for Sri Lanka: stakeholder Opinion

Abstract

Objectives Newborn screening helps to identify inherited disorders at their asymptomatic stage and intervene before babies go into the symptomatic phase. A number of Inherited Metabolic Disorders (IMDs) are being screened at birth in developed countries.1 However, in Sri Lanka, the Ministry of Health has adopted screening for congenital hypothyroidism, critical congenital heart diseases, and congenital deafness as a policy in all newborns.2 Hence, there is a requirement to assess the need for expanded newborn screening in Sri Lanka. This requires epidemiological studies of the IMDs before investment to ensure the cost-effectiveness of the programme and reflections on the acceptance by beneficiaries. This study aimed to evaluate the knowledge, attitudes, and willingness toward eNBS among expectant women.

Methods A descriptive cross-sectional study was conducted at the antenatal clinics of the Mahamodara Maternity Hospital, Galle, Southern Province, Sri Lanka. A convenient sample was obtained from the antenatal clinics. A pre-tested interviewer-administered questionnaire was used to assess basic socio-demographic details, knowledge and perception of eNBS.

Results A total of 602 pregnant women took part in the study. The mean age is 29 years (SD±5.7). The majority (67%, n=403) were within 26–39 years. of them, 37.2% were primi gravida, and the majority (60%) were in the third trimester. More than 50% of the study participants knew about the heel prick test done at birth. However, only 34.8% and 28.0% were aware of the screening for congenital hypothyroidism and congenital heart disease, respectively. Most (93.6%) of mothers have not heard of the term IMDs, and only seven were aware of the term eNBS. Nevertheless, more than 80% of participants were willing to screen their babies at birth for underlying IMDs, even if it is available on payment, as the current programme was free of charge to the family. Similarly, the majority (96.2%, n=579) were willing to screen their babies for incurable diseases. Table 01 shows the knowledge and attitudes towards the expanded newborn screening programme.

Conclusion Though most women were aware of the heel prick test done at birth, only a suboptimal proportion of them was aware of the disease/s checked using the test. In addition, there was poor knowledge about the IMDs and eNBS. However, there are positive attitudes towards eNBS.