Khan Janine Y, Subedi Kalpana U, Karmacharya Shailendra B, Paudel Prajwal, Manandhar Dharma S, Hennessy Garza Rose, Dookeran Keith A, Manandhar Sunil R
Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, USA.
Paropakar Maternity and Women's Hospital, Thapathali, Kathmandu, Nepal.
BMC Glob Public Health. 2024 Feb 9;2(1):10. doi: 10.1186/s44263-024-00040-x.
Strategic action plans around newborn health evaluation are needed, to address the high neonatal mortality rate in Nepal. Surveillance systems, like Newborn Metabolic Screening (NBS), could reveal unrecognized drivers of neonatal death. NBS is not routinely performed in Nepal. Our objective was to determine the feasibility of establishing NBS, and its acceptability among healthcare providers and parents, in Nepal.
This prospective cohort study was conducted between November 2021 and May 2022 in term/late preterm infants born at Paropakar Maternity Hospital, Kathmandu, screening for 6 disorders that can be confirmed and managed locally. Staff were trained on dried-blood spot collection and transport protocols, performance metrics were established, and assays were performed at an accredited laboratory in Bangalore, India. Surveys were developed to determine acceptability among health-care providers and parents.
Of 835 parents approached for the study, 825 (98.8%) consented. Parental surveys showed that 92% considered "no cost" option most important in choosing to participate in the study. Samples were transported to laboratories in Kathmandu and Bangalore in 36 ± 24 h, and 4.75 ± 1 days, which exceeded expected metrics of 24 and 48 h, respectively. Results were communicated to parents by 9.5 ± 2 days, which was within the expected metric window of 14 days. Abnormalities were reported in 13 infants and included 5 hemoglobinopathy traits (4 Hb E and 1 Hb D), 3 congenital hypothyroidism, 2 glucose-6-phosphate dehydrogenase deficiency, 1 congenital adrenal hyperplasia, 1 elevated acylcarnitine, and 1 biotinidase deficiency. Healthcare providers surveyed (n = 116) showed that 67% reported a moderate understanding of NBS; all indicated that screening would be beneficial. Most cited early diagnosis and treatment, as well as, providing risk to future pregnancies as significant benefits. 90% thought screening should be routinely performed.
We demonstrate that it is feasible to introduce NBS in Nepal. Transport metrics were longer than expected due to COVID pandemic travel restrictions; however, it was possible to deliver results to families within 2 weeks of birth. Parents overwhelmingly considered "no cost" option as the most important in choosing to screen. A government-sponsored program will be a key factor in establishing NBS in Nepal.
为应对尼泊尔新生儿死亡率高的问题，需要围绕新生儿健康评估制定战略行动计划。新生儿代谢筛查（NBS）等监测系统可能会揭示未被认识的新生儿死亡驱动因素。尼泊尔未常规开展NBS。我们的目标是确定在尼泊尔建立NBS的可行性及其在医疗服务提供者和家长中的可接受性。
这项前瞻性队列研究于2021年11月至2022年5月在加德满都帕罗帕卡尔妇产医院出生的足月儿/晚期早产儿中进行，筛查6种可在当地确诊和管理的疾病。工作人员接受了干血斑采集和运输规程培训，建立了性能指标，并在印度班加罗尔的一家认可实验室进行检测。开展调查以确定医疗服务提供者和家长的可接受性。
在835名被邀请参加研究的家长中，825名（98.8%）同意。家长调查显示，92%的人认为“免费”选项在选择参与研究时最为重要。样本分别在36±24小时和4.75±1天内被运送到加德满都和班加罗尔的实验室，分别超过了预期的24小时和48小时指标。结果在9.5±2天内传达给家长，这在预期的14天指标范围内。13名婴儿报告有异常，包括5例血红蛋白病特征（4例Hb E和1例Hb D）、3例先天性甲状腺功能减退、2例葡萄糖-6-磷酸脱氢酶缺乏、1例先天性肾上腺皮质增生、1例酰基肉碱升高和1例生物素酶缺乏。接受调查的医疗服务提供者（n = 116）显示，67%的人报告对NBS有中等程度的了解；所有人都表示筛查将有益处。大多数人认为早期诊断和治疗以及为未来怀孕提供风险是显著的益处。90%的人认为筛查应该常规进行。
我们证明在尼泊尔引入NBS是可行的。由于新冠疫情旅行限制，运输指标比预期长；然而，在出生后2周内将结果告知家庭是可能的。绝大多数家长认为“免费”选项是选择筛查时最重要的因素。政府资助的项目将是在尼泊尔建立NBS的关键因素。
