Epidemiology, Natural History, Progression, and Postnatal Outcome of Severe Fetal Ventriculomegaly
Fetal Medicine Unit, the Royal Victoria Infirmary, and the Institute of Health & Society, Newcastle University, Newcastle Upon Tyne, United Kingdom. Obstetrics and Gynecology
(Impact Factor: 5.18).
12/2012; 120(6):1345-53. DOI: 10.1097/AOG.0b013e3182732b53
: To estimate the prevalence, associated anomalies, progression, and clinical outcome in fetuses prenatally diagnosed with severe ventriculomegaly.
: This is a population-based study using prospectively collected data from the north of England. Data were obtained from the Northern Congenital Abnormality Survey for the period 1994-2008. Associated anomalies were categorized using the European Surveillance of Congenital Anomalies guidelines. Differences between isolated and nonisolated ventriculomegaly were examined using Fisher's exact test or Mann-Whitney U test.
: There were 157 cases of confirmed severe ventriculomegaly in singleton pregnancies among 441,247 eligible births, a prevalence of 3.6 per 10,000 births (95% confidence interval [CI] 3.0-4.2). Chromosomal anomalies were detected prenatally in five cases (3.2%, 95% CI 1.0-7.3) and associated structural anomalies in 67 (42.7%, 95% CI 34.8-50.8). One hundred one women (64.3%) elected to have a termination of pregnancy, more commonly in the presence of associated anomalies (76.9% compared with 51.9%, P=.001). Ultrasonographic follow-up data were available for 53 fetuses; in 13 cases (24.5%), atrium size decreased prenatally, whereas in the remainder, median atrium size increased by 4.1 mm over 3.5 weeks. Associated anomalies were detected postnatally in 22 of 79 cases suspected prenatally to be isolated (27.8%, 95% CI 18.3-39.1). Of 53 live births, there were 11 (20.8%) neonatal deaths, including six (16.2%) of the isolated group. Neonatal death was not predicted by atrial measurement progression.
: The prevalence of severe ventriculomegaly was 3.6 per 10,000 births. Although more than 50% opt to terminate, of those with live births, there were 21% neonatal deaths with nearly half in neonates with isolated ventriculomegaly.
Available from: Giorgio Pagani
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ABSTRACT: IntroductionThe finding of fetal ventriculomegaly is variably associated with other fetal abnormalities and, even when isolated, thought to be linked to abnormal neurodevelopmental outcome. The aim of this study was to undertake a systematic review and meta-analysis of the current literature to assess the prevalence of neurodevelopmental delay in cases of isolated mild fetal ventriculomegaly, and the false negative rate of prenatal imaging for the diagnosis of associated abnormalities in patients referred for isolated mild ventriculomegaly. Methods
Studies that assessed neurodevelopmental outcome in isolated ventriculomegaly were identified from a search of scientific databases. Studies that did not check for karyotype or that excluded cases of bilateral ventriculomegaly were not included in the analysis. Ventriculomegaly was defined as mild when the ventricular width was between 10 and 15 mm. Cases in which an associated abnormality (abnormal karyotype, structural abnormality or fetal infection) was observed either prior or after birth were not considered as part of the isolated group. Neurodevelopmental delay was defined as an abnormal quotient score, according to the test used. ResultsThe search yielded 961 possible citations; of these, 904 were excluded by review of the title or abstract as they did not meet the selection criteria. Full manuscripts were retrieved for 57, and a total of 20 studies were included in the review with a total of 699 cases of isolated mild ventriculomegaly. The overall prevalence of neurodevelopmental delay was 7.9% (95% CI 4.7-11.1%). Out of the 20 studies included in SR, nine reported systematically data about post-natal imaging showing a prevalence of previously undiagnosed findings of 7.4% (95% CI 3.1-11.8%). Conclusions
The false negative rate of prenatal imaging is 7.4% in apparently isolated fetal ventriculomegaly ≤15 mm. The incidence of neurodevelopmental delay in truly isolated ventriculomegaly ≤15 mm is 7.9%. As the latter rate is in keeping with that noted in the general population, large prospective cohort studies assessing the prevalence of childhood disability rather than subtle neurodevelopmental delay are required.
Ultrasound in Obstetrics and Gynecology 10/2013; 42(s1). DOI:10.1002/uog.12623 · 3.85 Impact Factor
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To determine the prevalence of fetal ventriculomegaly and identify the neurological outcomes of newborns with a prenatal diagnosis.
Observational study of ventriculomegaly prenatally diagnosed by ultrasound in our department between 2004 and 2012.
We diagnosed 61 cases of ventriculomegaly. The prevalence rate was 2.25 per 1,000. Diagnosis was made during the second trimester in 54 patients and during the third trimester in 7. Bilateral ventriculomegaly was found in 91% of the fetuses. Ventriculomegaly was mild (10-12 mm) in 79.4% and moderate (12-15 mm) in 5.6%. Severe ventriculomegaly (>15 mm) or hydrocephalus was diagnosed in 15% of the fetuses. The clinical course during pregnancy was unfavorable in 13%. Associated anomalies were diagnosed in 23 cases.
Mild, isolated and non-progressive ventriculomegaly has the best neurological prognosis.
Progresos de Obstetricia y Ginecología 05/2014; 57(5). DOI:10.1016/j.pog.2014.01.007
Available from: Tanya Kitova
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To examine and characterize the agenesis of the corpus calosum (ACC) in an epidemiological study of fetal autopsies, as well as, to analyze the associated anomalies and to emphasize the importance of the clinical examination of ACC.
The subjects of observation are 20 fetuses from a total of 2238 autopsies carried out during a period of three years (2006-2009) in Tunis.
The associated abnormalities are hydrocephalus, cerebellar hypoplasia, agenesis of vermis cerebelli, polymicrogyria and lissencephaly. Sixteen of the cases (80%) are syndromic: Trisomy 13,18,21 (5,1,2 fetuses respectively) and Thanatophoric dysplasia, Fetal akinesia syndrome, Dandy-Walker Malformation and the Association VACTERL are represented by two cases each.
The prenatal diagnosis of ACC must be the result of a multidisciplinary approach. The phenotype of the XLAG syndrome creates an interest to study asymptomatic patients with ACC, especially when the anomaly is detected prenatally.
Fetal and pediatric pathology 05/2014; 33(4). DOI:10.3109/15513815.2014.915366 · 0.48 Impact Factor
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