The context of fetal ventriculomegaly in a developing country : a retrospective review

Pretorius, Cornelius Hermanus Zacharias (2019-12)

Thesis (MMed)--Stellenbosch University, 2019.


AIM: The goal of this study is to describe fetal ventriculomegaly (VM) in a developing country population with regards to clinical presentation, associated findings, natural history and outcome. Materials and methods This retrospective observational study was conducted at Tygerberg Academic Hospital, a secondary and tertiary referral centre in the Western Cape Province. Data was collected from all pregnancies with a prenatal diagnosis of ventriculomegaly from 2013 to 2015. The initial presentation and associated findings with the natural history of VM was studied and a selection of perinatal outcomes was measured. Results A final cohort of 252 cases was analysed: 168 mild, 42 moderate and 42 severe cases of VM. The median gestational age at diagnosis was 23w4d, with 48,8% diagnosed after 24w0d. Mild VM was more likely to be unilateral (p<0,001) and isolated (p=0,006) when compared to moderate and severe VM. Mild VM was associated with multiple soft markers in up to a third of the cases and over half of the cases normalized during pregnancy; severe VM was associated with multiple major anomalies in 31,0% of the cases. The majority of major anomalies in all 3 groups were CNS defects in 25,8% and cardiac anomalies in 10,3%. Termination of pregnancy was opted for in 12,5% of mild, 35,7% of moderate and 59,5% of severe VM cases. Conclusion VM is a common prenatal finding but, in this setting, was often diagnosed late, which limits options for investigation and management. Associated findings included cardiac and other CNS abnormalities and increased with increasing severity of VM. Aneuploidies were encountered within all groups. In this cohort, unilateral VM was more associated with mild VM and may have been due to the inclusion of borderline VM, which was shown not to be a benign finding. Uptake of invasive testing and of TOP was low in this community and the late diagnosis may have contributed to that.

Doelwit Die doelwit van die studie was om fetale ventrikulomegalie (VM) te beskryf in ‘n ontwikkelende land, spesifiek die kliniese beeld, geassosieerde bevindinge asook uitkomste. Metodes Die retrospektiewe observasie studie was gedoen te Tygerberg Akademiese Hospitaal, ‘n sekondêre en tersiêre verwysingshospitaal in die Wes Kaap. Data is gekollekteer van alle swangerskappe met ‘n prenatale diagnose van fetale ventrikulomegalie vanaf 2013 tot 2015. Die aanvanklike kliniese beeld en geassosieerde bevindinge was bestudeer, asook sekere perinatale uitkomste. Resultate ‘n Finale kohort van 252 gevalle was geanaliseer: 168 geringe, 42 matige en 42 erge gevalle van VM. Die mediane gestasie van diagnose was 23w4d, met 48,8% gediagnoseer na 24w0d. Geringe VM was meer waarskynlik unilateraal (p<0.001) asook geisoleerd (p=0,006) wanneer dit vergelyk word met matige en erge VM. Geringe VM was geassosieer met veelvuldige sagte merkers in ongeveer ‘n derde van die gevalle en meer as die helfte hiervan het genormaliseer tydens swangerskap. Erge VM was geassosieer met veelvuldige major abnormaliteite in 31,0% van die gevalle. Die meerderheid van die major abnormaliteite in al 3 groepe was sentrale senuweestelsel defekte in 25,8% en hart-anomaliteite in 10,3%. Terminasie van swangerskap is ondergaan in 12,5% van geringe, 35,7% van matige en 59,5% van erge VM gevalle. Gevolgtrekking VM is nie ‘n rare prenatale bevinding nie en in die studie was dit dikwels laat gediagnoseer, met gevolglik beperkte ondersoeke en behandelingsopsies. Geassosieerde bevindinge, veral hart en sentraal senuweestelse, was algemeen en meer gesien met die toenemend graad van VM. Aneuploidies was in al drie groepe waargeneem. In die kohort was unilaterale VM frekwent, maar was meer gesien in geringe VM. Dit was heel moontlik as gevolg van die insluiting van grensgeval VM, wat nie ‘n onskuldige bevinding was nie. Die opname van invasieve toetse, insluitend terminasie van swangerskap, was laag. Laat diagnose mag hiertoe bygedra het.

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