Simeone Regina M, Rasmussen Sonja A, Mei Joanne V, Dollard Sheila C, Frias Jaime L, Shaw Gary M, Canfield Mark A, Meyer Robert E, Jones Jeffrey L, Lorey Fred, Honein Margaret A
Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.
Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):431-6. doi: 10.1002/bdra.23138. Epub 2013 May 28.
Congenital hydrocephalus is a condition characterized by accumulation of cerebrospinal fluid in the ventricles of the brain. Prenatal infections are risk factors for some birth defects. This pilot study investigated whether residual dried blood spots (DBS) could be used to assess infections as risk factors for birth defects by examining the associations between prenatal infection with Toxoplasma gondii (T. gondii) or cytomegalovirus (CMV) with congenital hydrocephalus.
Case-infants with hydrocephalus (N=410) were identified among live-born infants using birth defects surveillance systems in California, North Carolina, and Texas. Control-infants without birth defects were randomly selected from the same geographic areas and time periods as case-infants (N=448). We tested residual DBS from case- and control-infants for T. gondii immunoglobulin M and CMV DNA. When possible, we calculated crude odds ratios (cORs) and confidence intervals (CIs).
Evidence for prenatal T. gondii infection was more common among case-infants (1.2%) than control-infants (0%; p=0.11), and evidence for prenatal CMV infection was higher among case-infants (1.5%) than control-infants (0.7%; cOR: 2.3; 95% CI: 0.48, 13.99).
Prenatal infections with T. gondii and CMV occurred more often among infants with congenital hydrocephalus than control-infants, although differences were not statistically significant. This pilot study highlighted some challenges in using DBS to examine associations between certain infections and birth defects, particularly related to reduced sensitivity and specimen storage conditions. Further study with increased numbers of specimens and higher quality specimens should be considered to understand better the contribution of these infections to the occurrence of congenital hydrocephalus.
先天性脑积水是一种以脑脊液在脑室中积聚为特征的病症。产前感染是一些出生缺陷的危险因素。这项初步研究通过检查弓形虫（T. gondii）或巨细胞病毒（CMV）的产前感染与先天性脑积水之间的关联，调查了残留干血斑（DBS）是否可用于评估作为出生缺陷危险因素的感染情况。
利用加利福尼亚州、北卡罗来纳州和得克萨斯州的出生缺陷监测系统，在活产婴儿中识别出脑积水病例婴儿（N = 410）。从与病例婴儿相同的地理区域和时间段中随机选取无出生缺陷的对照婴儿（N = 448）。我们检测了病例婴儿和对照婴儿残留DBS中的弓形虫免疫球蛋白M和CMV DNA。在可能的情况下，我们计算了粗比值比（cORs）和置信区间（CIs）。
病例婴儿中产前弓形虫感染的证据（1.2%）比对照婴儿（0%；p = 0.11）更常见，病例婴儿中产前CMV感染的证据（1.5%）高于对照婴儿（0.7%；cOR：2.3；95% CI：0.48，13.99）。
先天性脑积水婴儿中产前弓形虫和CMV感染比对照婴儿更常见，尽管差异无统计学意义。这项初步研究凸显了使用DBS检查某些感染与出生缺陷之间关联时的一些挑战，特别是与敏感性降低和标本储存条件有关。应考虑进行更多标本数量和更高质量标本的进一步研究，以更好地了解这些感染对先天性脑积水发生的影响。
