Ventriculomegaly Precision Panel
Ventriculomegaly is the term used to describe ventricular dilation unrelated to increased cerebrospinal fluid pressure, such as dilation due to brain dysgenesis or atrophy.
Overview
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Ventriculomegaly is the term used to describe ventricular dilation unrelated to increased cerebrospinal fluid pressure, such as dilation due to brain dysgenesis or atrophy. Also known as hydrocephalus, which is described as the pathological dilation of the brain’s ventricular system, these terms are used interchangeably. Fetal cerebral ventriculomegaly is a relatively common finding on the second trimester obstetric ultrasound examination, even isolated ventriculomegaly can be a normal variant associated with normal offspring outcome. Ventriculomegaly can be caused by a variety of disorders that result in neurologic, motor and/or cognitive impairment. It is one of the most common abnormal sonographic findings associated with congenital infection, chromosomal and additional structural abnormalities.
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The Igenomix Ventriculomegaly Precision Panel can be used to make a directed and accurate diagnosis and correlate an ultrasound finding with potential syndromic associations ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of ultrasound surveillance as well as perinatal and postnatal follow-up for potential worsening of ventriculomegaly.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
- Identification of the genetic basis of these associated disorders for a better insight into the mechanisms of brain development.
References
Perlman S, Shashar D, Hoffmann C, Yosef OB, Achiron R, Katorza E. Prenatal diagnosis of fetal ventriculomegaly: Agreement between fetal brain ultrasonography and MR imaging. AJNR Am J Neuroradiol. 2014 Jun;35(6):1214-8. doi: 10.3174/ajnr.A3839. Epub 2014 Jan 16. PMID: 24436347
Society for Maternal-Fetal Medicine (SMFM);. Electronic address: pubs@smfm.org, Fox, N. S., Monteagudo, A., Kuller, J. A., Craigo, S., & Norton, M. E. (2018). Mild fetal ventriculomegaly: diagnosis, evaluation, and management. American journal of obstetrics and gynecology, 219(1), B2–B9. https://doi.org/10.1016/j.ajog.2018.04.039
Kahle, K. T., Kulkarni, A. V., Limbrick, D. D., Jr, & Warf, B. C. (2016). Hydrocephalus in children. Lancet (London, England), 387(10020), 788–799. https://doi.org/10.1016/S0140-6736(15)60694-8
Wang, Y., Hu, P., & Xu, Z. (2018). Copy number variations and fetal ventriculomegaly. Current opinion in obstetrics & gynecology, 30(2), 104–110. https://doi.org/10.1097/GCO.0000000000000439
Yi, J. L., Zhang, W., Meng, D. H., Ren, L. J., Yu, J., & Wei, Y. L. (2019). Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital. The Journal of international medical research, 47(11), 5508–5517. https://doi.org/10.1177/0300060519853405
Pisapia, J. M., Sinha, S., Zarnow, D. M., Johnson, M. P., & Heuer, G. G. (2017). Fetal ventriculomegaly: Diagnosis, treatment, and future directions. Child’s nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 33(7), 1113–1123. https://doi.org/10.1007/s00381-017-3441-y
Scelsa, B., Rustico, M., Righini, A., Parazzini, C., Balestriero, M. A., Introvini, P., Spaccini, L., Mastrangelo, M., Lista, G., Zuccotti, G. V., & Veggiotti, P. (2018). Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 22(6), 919–928. https://doi.org/10.1016/j.ejpn.2018.04.001
