圭亚那新生儿镰状细胞贫血和先天性甲状腺功能减退症筛查的横断面前瞻性可行性研究。

Cross-sectional prospective feasibility study of newborn screening for sickle cell anaemia and congenital hypothyroidism in Guyana.

机构信息

Pediatrics, Georgetown Hospital, Georgetown, Guyana

Pediatrics, Georgetown Hospital, Georgetown, Guyana.

出版信息

BMJ Open. 2022 Feb 22;12(2):e046240. doi: 10.1136/bmjopen-2020-046240.

DOI:10.1136/bmjopen-2020-046240

PMID:35193898

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8867252/

Abstract

INTRODUCTION

Newborn screening (NBS) is a test done shortly after birth to detect conditions that cause severe health problems if not treated early. An estimated 71% of babies worldwide are born in jurisdictions that do not have an established NBS programme. Guyana currently has no NBS programme and has established a partnership with Newborn Screening Ontario (NSO) to initiate screening.

OBJECTIVES

To assess the feasibility of implementing a NBS programme in Guyana for congenital hypothyroidism (CH) and haemoglobinopathies (HBG) and to report on screen positive rates and prevalence (Hardy-Weinberg equilibrium (HWE)) for CH and HBG.

METHODS

Term, healthy Guyanese infants were evaluated (with consent) using heel prick dried blood spots (DBS) shortly after birth (closer to 24 hours of life). DBS samples were analysed at NSO. Screening test for CH was done using a human thyroid-stimulating hormone (hTSH) assay. Mean hTSH levels between the Guyanese sample and the Ontarian population were compared using Student's t-test with an alpha of 0.05. Screening test for HBG was performed with a cation-exchange high-performance liquid chromatography.

RESULTS

The pilot was conducted from 6 June 2016 to 22 September 2017. Georgetown Public Hospital Corporation recruited 2294 mothers/infants. Screen positive rate for CH in our sample was 0.0% (0/2038 infants). Mean TSH levels in Guyanese samples (1.7 µU/mL blood) was noticed to be significantly different than in the Ontarian population (4.3 µU/mL blood) (p<0.05). Screen positive rate for sickle cell anaemia (SCA) in our sample was 0.3% (7/2039 patients), and the carrier rate was 8.4% (172/2039 patients). Using the HWE, the SCA frequency (S allele frequency) is 0.049=0.002 CONCLUSION: NBS for CH and SCA in Guyana could be beneficial. Future work should focus on conducting larger pilots which could be used to inform diagnosis and treatment guidelines for Guyanese people.

摘要

简介

新生儿筛查（NBS）是一种在出生后不久进行的测试，用于检测如果不早期治疗会导致严重健康问题的疾病。据估计，全球有 71%的婴儿出生在尚未建立 NBS 计划的司法管辖区。圭亚那目前没有 NBS 计划，并与安大略省新生儿筛查组织（NSO）建立了合作伙伴关系，以启动筛查。

目的

评估在圭亚那实施先天性甲状腺功能减退症（CH）和血红蛋白病（HBG）NBS 计划的可行性，并报告 CH 和 HBG 的阳性筛查率和患病率（Hardy-Weinberg 平衡（HWE））。

方法

使用足跟刺取血样（DBS）对足月、健康的圭亚那婴儿进行评估（经同意），出生后不久（更接近 24 小时的生命）。DBS 样本在 NSO 进行分析。CH 的筛查检测使用人促甲状腺激素（hTSH）测定法进行。使用学生 t 检验比较圭亚那样本和安大略人群之间的平均 hTSH 水平，检验水准为 0.05。HBG 的筛查检测使用阳离子交换高效液相色谱法进行。

结果

该试点于 2016 年 6 月 6 日至 2017 年 9 月 22 日进行。乔治敦公立医院公司招募了 2294 名母亲/婴儿。我们样本中 CH 的阳性筛查率为 0.0%（0/2038 名婴儿）。圭亚那样本中的 TSH 水平（1.7 µU/mL 血液）明显低于安大略人群（4.3 µU/mL 血液）（p<0.05）。我们样本中镰状细胞贫血（SCA）的阳性筛查率为 0.3%（7/2039 例患者），携带者率为 8.4%（172/2039 例患者）。使用 HWE，SCA 频率（S 等位基因频率）为 0.049=0.002。