Prevalence of Sickle Cell Trait and Reliability of Self-Reported Status among Expectant Parents in Nigeria: Implications for Targeted Newborn Screening.
Prevalence of Sickle Cell Trait and Reliability of Self-Reported Status among Expectant Parents in Nigeria: Implications for Targeted Newborn Screening.
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DOI：
10.1159/000448914
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发表时间：
2016
影响因子：
1.7
通讯作者：
Ezeanolue EE
中科院分区：
文献类型：
--
作者：
Burnham-Marusich AR;Ezeanolue CO;Obiefune MC;Yang W;Osuji A;Ogidi AG;Hunt AT;Patel D;Ezeanolue EE
镰状细胞病（SCD）是一种危及生命的常染色体隐性遗传血液病，流行于撒哈拉以南非洲地区。我们确定了尼日利亚埃努古州孕妇和男性伴侣中镰状细胞特征（SCT）的患病率，并确定了自我报告的镰状细胞状态的准确性及其用于识别高危新生儿进行有针对性筛查的可靠性。我们对参加健康开端倡议（HBI）的准父母进行了一项嵌套队列研究。HBI是一项基于聚集的方法的随机分组试验，旨在增加艾滋病毒检测。参与者完成了一项关于镰状细胞基因型自我意识的调查，并同意通过醋酸纤维素电泳进行基因型筛查。SCT患病率（HbAS）为22%（746/3，371）。只有50%的参与者提供了准确的自我报告。自我报告准确性在报告患有SCT或SCD的个体（61%准确性）与报告未患有SCT或SCD的个体（86%准确性）之间存在显著差异（p<0.0001）。人口统计学变量，包括性别，年龄，家庭规模，就业，教育和家庭所在地显着相关提供一个准确的自我报告。在尼日利亚，准确的父母自我报告数量少，加上SCT的高患病率，可能会限制有针对性的新生儿筛查的有效性。然而，我们的数据表明，将孕妇的镰状细胞筛查与总统艾滋病紧急救援计划（PEPFAR）制定的现有社区医疗保健计划（如HBI）相结合是可行的。扩大筛查计划可以根据母体基因型开发有针对性的新生儿筛查，从而在资源有限的环境中识别所有患有SCD的新生儿。
Sickle cell disease (SCD) is a life-threatening, autosomal recessive blood disorder prevalent in sub-Saharan Africa. We identified the prevalence of sickle cell trait (SCT) among pregnant women and male partners in Enugu State, Nigeria, and determined the accuracy of self-reported sickle cell status and its reliability for identifying high-risk newborns for targeted screening. We conducted a nested cohort study of expectant parents enrolled in the Healthy Beginning Initiative (HBI). HBI is a cluster-randomized trial of a congregation-based approach designed to increase HIV testing. Participants completed a survey regarding self-awareness of their sickle cell genotype and consented to genotype screening by cellulose acetate electrophoresis. SCT prevalence (HbAS) was 22% (746 of 3,371). Only 50% of participants provided an accurate self-report. Self-report accuracy was significantly different (p<0.0001) between individuals who reported having SCT or SCD (61% accuracy) vs. those who reported not having SCT or SCD (86% accuracy). Demographic variables including gender, age, household size, employment, education, and home location were significantly associated with providing an accurate self-report. Low numbers of accurate parental self-reports coupled with high SCT prevalence in Nigeria, could limit the efficacy of targeted newborn screening. However, our data indicates that it is feasible to integrate sickle cell screening for pregnant women with existing, community-based, healthcare programs developed by the President’s Emergency Plan for AIDS Relief (PEPFAR), such as HBI. Expanding screening programs could enable development of targeted newborn screening based on maternal genotype that could identify all newborns with SCD in resource-limited settings.
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影响因子：
3.4
作者：
Rahimy, M. C.;Gangbo, A.;Alihonou, E.
通讯作者：
Alihonou, E.
影响因子：
3.4
作者：
Tshilolo, L.;Aissi, L. M.;Vertongen, F.
通讯作者：
Vertongen, F.
DOI：
10.1038/gim.2015.143
发表时间：
2016-03
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Piel FB;Adamkiewicz TV;Amendah D;Williams TN;Gupta S;Grosse SD
通讯作者：
Grosse SD
影响因子：
2.5
作者：
Galadanci, N.;Wudil, B. J.;Adekile, A. D.
通讯作者：
Adekile, A. D.
影响因子：
2.9
作者：
Kafando, E;Sawadogo, M;Gulbis, A
通讯作者：
Gulbis, A