确定先天性巨细胞病毒感染扩大靶向筛查方法的临床标准——一项回顾性研究

IF 4 Q1 GENETICS & HEREDITY International Journal of Neonatal Screening Pub Date : 2023-07-24 DOI:10.3390/ijns9030040
Maya Heled Akiva, Hannah Hyde De Souza, Valerie Lamarre, Isabelle Boucoiran, Soren Gantt, Christian Renaud, Fatima Kakkar
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引用次数: 0

摘要

先天性巨细胞病毒感染(cCMV)的靶向筛查,需要对未通过新生儿听力筛查(NBHS)的婴儿进行巨细胞病毒检测,已成为普遍做法。然而,这种策略几乎忽略了所有出生时听力正常的感染婴儿,这些婴儿随后听力损失的风险很高,并将受益于及时的cCMV诊断。本研究的目的是确定预测cCMV的扩展标准,以增加新生儿CMV靶向筛查的范围和效用。在这项回顾性研究中,2014年至2018年期间,465名新生儿在一家三级医疗中心接受了cCMV筛查。22名婴儿被诊断患有cCMV,占同期12,189名新生儿的0.2%,占接受检测婴儿的4.7%。cCMV感染率最高的是因母体原发CMV感染而被检测的婴儿(8/42,19%),其次是初始NBHS失败(10/88,11.4%)、母体HIV感染(3/137,2.2%)和单纯临床怀疑(5/232,2.2%)。在所有接受检测的婴儿中,感染发生率最高的症状包括肝脏和/或脾脏肿大(33.3%)(3/9),其次是瘀点(33.3%)、小头畸形(9.4%)、直接高胆红素血症(7.7%)、血小板减少(6%)和生长障碍(4.3%)。除了对未通过NBHS的新生儿进行巨细胞病毒筛查外,这些数据表明,ccmv的某些临床症状,特别是:血小板减少症、生长障碍和妊娠期艾滋病毒暴露,应该作为扩大新生儿巨细胞病毒筛查的额外标准,因为普遍筛查尚未成为护理标准。
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Identifying Clinical Criteria for an Expanded Targeted Approach to Screening for Congenital Cytomegalovirus Infection-A Retrospective Study.

Targeted screening for congenital CMV infection (cCMV), which entails CMV testing of infants who fail newborn hearing screening (NBHS), has become common practice. However, this strategy misses nearly all infected infants with normal hearing at birth who are nonetheless at high risk of subsequent hearing loss and would benefit from timely cCMV diagnosis. The objective of this study was to identify expanded criteria predictive of cCMV to increase the scope and utility of targeted newborn CMV screening. In this retrospective study, 465 newborns were tested for cCMV at a single tertiary care center with a targeted screening program between 2014 and 2018. Twenty-two infants were diagnosed with cCMV, representing 0.2% of the 12,189 births over this period and 4.7% of the infants tested. The highest prevalence of cCMV infection was among infants tested because of primary maternal CMV infection (8/42, 19%), followed by failed initial NBHS (10/88, 11.4%), maternal HIV infection (3/137, 2.2%), and clinical suspicion alone (5/232, 2.2%). The symptoms with the highest prevalence of infection among all infants tested included an enlarged liver and/or spleen (33.3%) (3/9), followed by petechiae (33.3%), microcephaly (9.4%), direct hyperbilirubinemia (7.7%), thrombocytopenia (6%), and growth impairment (4.3%). In addition to CMV screening of newborns who fail the NBHS, these data suggest that certain clinical signs of cCMV-in particular: thrombocytopenia, growth impairment, and HIV exposure in pregnancy-should be additional criteria for expanded targeted newborn CMV screening, where universal screening is not yet the standard of care.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
期刊最新文献
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