A pilot study using residual newborn dried blood spots to assess the potential role of cytomegalovirus and <i>Toxoplasma gondii</i> in the etiology of congenital hydrocephalus

Simeone, Regina M.; Rasmussen, Sonja A.; Mei, Joanne V.; Dollard, Sheila C.; Frías, Jaime L.; Shaw, Gary M.; Canfield, Mark A.; Meyer, Robert E.; Jones, Jeffrey L.; Lorey, Fred; Honein, Margaret A.

doi:10.1002/bdra.23138

Cited by 15 publications

(14 citation statements)

References 42 publications

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“…Intrauterine infections with enterovirus [21], lymphocytic choriomeningitis [22], CMV and toxoplasmosis [23] have all been associated with hydrocephalus, but their contribution to the total burden of infantile hydrocephalus remains unknown. A recent pilot study [23] found that infants with hydrocephalus were more likely to have evidence of toxoplasmosis or CMV infection on neonatal blood spot cards than infants without hydrocephalus. The odds ratio was not statistically significant, which the authors attributed to reduced sensitivity of stored specimens and to small numbers of affected patients overall.…”

Section: Causes Of Hydrocephalusmentioning

confidence: 99%

Infantile hydrocephalus: A review of epidemiology, classification and causes

Tully¹,

Dobyns²

2014

European Journal of Medical Genetics

324

246

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Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

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Section: Causes Of Hydrocephalusmentioning

confidence: 99%

Infantile hydrocephalus: A review of epidemiology, classification and causes

Tully¹,

Dobyns²

2014

European Journal of Medical Genetics

324

246

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“…One case-control study suggested an association between CMV or T. gondii and CH, with estimated ORs of 3.78 and 10.6, respectively, for the association. 23 Sexually transmitted disease at the time of delivery was associated with 1.2% of pregnancies in which the infant developed CH according to a cohort study. 27 Nevertheless, none of the identified associations were statistically significant.…”

Section: Congenital Infectionsmentioning

confidence: 99%

“…17 In a case-control study, prenatal CMV and T. gondii infections were considered as risk factors for CH, but these associations did not reach statistical significance. 23 The lack of significance was attributed to the limited number of analyzed samples and their quality, or to the relatively small proportion of cases that is related to these infections. In this context, it is worth noting that a recent study suggests an association between congenital T. gondii infection and specific anatomical patterns of CH, 12 whereas a meta-analysis of fetal ultrasound findings indicates an association between CMV congenital infection and hydrocephalus (in 4.7% of pregnancies).…”

mentioning

confidence: 99%

“…26 The 13 studies included in this systematic review have highlighted important factors associated with an increased risk of CH development. Nevertheless an additional point that needs to be made is that, aside from 1 meta-analysis, 23 5 large cohort studies, 5,13,18,20,26 and 3 case-control studies, 4,14,15 the remaining evidence was drawn from 3 case series and 1 case report. Moreover, even in the large-scale cohort and case-control studies, assessment of individual risk factors for CH was based on a limited number of cases.…”

mentioning

confidence: 99%

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Maternal environmental risk factors for congenital hydrocephalus: a systematic review

Kalyvas

Κalamatianos

Pantazi

et al. 2016

FOC

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OBJECTIVE Congenital hydrocephalus (CH) is one of the most frequent CNS congenital malformations, representing an entity with serious pathological consequences. Although several studies have previously assessed child-related risk factors associated with CH development, there is a gap of knowledge on maternal environmental risk factors related to CH. The authors have systematically assessed extrinsic factors in the maternal environment that potentially confer an increased risk of CH development. METHODS The Cochrane Library, MEDLINE, and EMBASE were systematically searched for works published between 1966 and December 2015 to identify all relevant articles published in English. Only studies that investigated environmental risk factors concerning the mother—either during gestation or pregestationally—were included. RESULTS In total, 13 studies (5 cohorts, 3 case series, 3 case-control studies, 1 meta-analysis, and 1 case report) meeting the inclusion criteria were identified. Maternal medication or alcohol use during gestation; lifestyle modifiable maternal pathologies such as obesity, diabetes, or hypertension; lack of prenatal care; and a low socioeconomic status were identified as significant maternal environmental risk factors for CH development. Maternal infections and trauma to the mother during pregnancy have also been highlighted as potential mother-related risk factors for CH. CONCLUSIONS Congenital hydrocephalus is an important cause of serious infant health disability that can lead to health inequalities among adults. The present study identified several maternal environmental risk factors for CH, thus yielding important scientific information relevant to prevention of some CH cases. However, further research is warranted to confirm the impact of the identified factors and examine their underlying behavioral and/or biological basis, leading to the generation of suitable prevention strategies.

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“…All three patients with concurrent encephalocele and all eight patients with concurrent myelomeningoceles were also found to have congenital ToRCH infections. 15 Treatment for toxoplasmosis in utero and during the first year of life has been shown to significantly improve outcomes.…”

Section: Resultsmentioning

confidence: 99%

Status of ToRCH positivity among the children presented with congenital Hydrocephalus

Mukherjee

Arman

Roy

et al. 2020

Bangla J. Neurosurgery

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Introduction: ToRCH is an acronym for four congenital infections that are sometimes difficult to distinguish: Toxoplasmosis, Rubella, Cytomegalovirus (CMV), and Herpes Simplex Virus (HSV). This group of organisms produces serious Central Nervous System (CNS) and other infections, which are potentially preventable and treatable. Methods: Neonates and infants with hydrocephalus (N = 65) identified via the outpatient department of the National Institute of Neurosciences and Hospital (NINS&H), were prospectively screened for ToRCH antibodies. Hydrocephalus secondary to Tumor or Trauma was excluded from this study. Results: Evidence of 75.38 % (p = <0.05) patient was positive for TORCH antibodies. Toxoplasma Gondi (T. Gondii) IgG 18.5 % ( p= <0.05 ), CMV IgM 9.2 % (p = <0.05), CMV Ig G47.7% ( p = <0.5), Rubella, and HSV 1 & 2 antibodies were also identified. Conclusion: The vast majority of cases of neonatal hydrocephalus at one institution was post-infectious in etiology and related to ToRCH infections. Many of these cases could be prevented with improved screening and treatment. While study of a single institution may not be the representative of the entire population, further study and implementation of a standardized screening protocol would likely benefit this population. Bang. J Neurosurgery 2020; 9(2): 121-125

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A pilot study using residual newborn dried blood spots to assess the potential role of cytomegalovirus and Toxoplasma gondii in the etiology of congenital hydrocephalus

Cited by 15 publications

References 42 publications

Infantile hydrocephalus: A review of epidemiology, classification and causes

Infantile hydrocephalus: A review of epidemiology, classification and causes

Maternal environmental risk factors for congenital hydrocephalus: a systematic review

Status of ToRCH positivity among the children presented with congenital Hydrocephalus

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