Prenatal detection of mild fetal ventriculomegaly – a systematic review of the modern literature

Abstract

Introduction While mild fetal ventriculomegaly is frequently observed as an incidental and benign finding, it is also known to be linked with structural, genetic, and neurodevelopmental abnormalities. The objective of this study was to conduct a systematic review of the existing literature in order to evaluate the association between apparently isolated fetal mild ventriculomegaly with the presence of additional structural defects detected by fetal brain MRI, chromosomal or other genetic anomalies, and neurodevelopmental delay.

Methods This systematic review was designed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Modern literature was searched from January 1, 2011, to July 31, 2023.

Results 23 studies were included, comprising a total of 2590 patients. Nine studies assessed the association between fetal mild ventriculomegaly and neurodevelopmental impairment, including 536 cases, with normal neurodevelopmental outcomes ranging from 64% to 96.5%. Ten studies evaluated the additive value of fetal MRI, including 1266 fetuses, with the detection rate of additional brain defects that eventually altered the clinical management ranging from 0% to 19.5%. Seven studies investigated the association of mild ventriculomegaly with the presence of underlying chromosomal or genetic conditions, including 747 cases, with the rate ranging from 1.1% to 15.4%.

Conclusion The prevalence of aneuploidy and genetic abnormalities in ventriculomegaly, especially in isolated cases, is reported to be quite low and the incidence of neurodevelopmental delay appears to be similar to that of the general population in cases that are apparently and truly isolated.

Zusammenfassung

Einleitung Während eine leichte fetale Ventrikulomegalie häufig als zufälliger und gutartiger Befund beobachtet wird, ist auch bekannt, dass sie mit strukturellen, genetischen und neurologischen Entwicklungsanomalien einhergeht. Ziel dieser Studie war es, eine systematische Übersicht der vorhandenen Literatur vorzunehmen, um den Zusammenhang zwischen scheinbar isolierter fetaler leichter Ventrikulomegalie und dem Vorliegen zusätzlicher struktureller Defekte, die durch fetale Hirn-MRT nachgewiesen wurden, sowie chromosomaler oder anderer genetischer Anomalien und neurologischer Entwicklungsverzögerungen zu bewerten.

Methoden Diese systematische Übersichtsarbeit wurde gemäß den Leitlinien der „Preferred Reporting Items for Systematic Reviews and Meta-Analyses“ erstellt. Die aktuelle Literatur vom 1. Januar 2011 bis zum 31. Juli 2023 wurde durchsucht.

Ergebnisse Es wurden 23 Studien mit insgesamt 2590 Patienten eingeschlossen. Neun Studien untersuchten den Zusammenhang zwischen einer leichten fetalen Ventrikulomegalie und einer beeinträchtigten neurologischen Entwicklung, darunter 536 Fälle, bei denen 64% bis 96,5% ein normales Outcome der neurologischen Entwicklung zeigten. Zehn Studien untersuchten den additiven Wert der fetalen MRT bei 1266 Feten, wobei die Detektionsrate hinsichtlich zusätzlicher Hirndefekte, die letztendlich das klinische Management veränderten, zwischen 0% und 19,5% lag. Sieben Studien mit 747 eingeschlossenen Fällen untersuchten die Korrelation zwischen leichter Ventrikulomegalie mit dem Vorliegen chromosomaler oder genetischer Ursachen, wobei die Rate zwischen 1,1% und 15,4% lag.

Schlussfolgerungen Die Prävalenz von Aneuploidie und genetischen Anomalien bei Ventrikulomegalie, insbesondere bei isolierten Fällen, ist Berichten zufolge relativ gering. Die Inzidenz neurologischer Entwicklungsverzögerungen scheint sowohl bei scheinbaren als auch wirklich isolierten Fällen derjenigen der Allgemeinbevölkerung zu entsprechen.

Keywords

mild ventriculomegaly - fetal ventriculomegaly - dilatation - fetal ventricular system - isolated

Publikationsverlauf

Eingereicht: 06. Januar 2024

Angenommen nach Revision: 01. März 2024

Artikel online veröffentlicht:
30. August 2024

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