Non-visualization of choroid plexus of fourth ventricle as first-trimester predictor of posterior fossa anomalies and chromosomal defects

Abstract

Objective: To assess non-visualization of the choroid plexus of the fourth ventricle (CP-4V) as a simple, qualitative and reproducible first-trimester ultrasound feature of the posterior fossa for the prediction of central nervous system (CNS) anomalies and chromosomal defects.

Methods: First-trimester three-dimensional ultrasound datasets of the fetal brain were obtained prospectively from 65 consecutive normal singletons and retrospectively from 27 fetuses identified as having an abnormal posterior fossa on first-trimester ultrasound examination, and randomly combined to form the final study group. The stored ultrasound volumes were analyzed offline by two accredited sonologists, who were not aware of the final diagnoses. The CP-4V was assessed by multiplanar navigation and classified as visible or non-visible in its normal position depending on whether or not the echogenic structure that separates the fourth ventricle from the cisterna magna was identified in both midsagittal and axial planes. Correlation with subsequent second-trimester ultrasound, fetal magnetic resonance imaging, or postmortem or postnatal findings was performed to determine the predictive value of the first-trimester findings.

Results: Among the 92 ultrasound datasets analyzed, 73 (79%) were acquired transabdominally and 19 (21%) transvaginally. The CP-4V was classified as visible in 64 cases and non-visible in 28 cases, with agreement between the two observers in both sagittal and axial planes in all but one case. Twelve of the 28 (43%) fetuses with non-visible CP-4V were subsequently diagnosed as having a CNS malformation (open spina bifida (n = 6), Dandy-Walker malformation (n = 2), Blake's pouch cyst (n = 2), cephalocele (n = 1) and megacisterna magna (n = 1)). In addition, 20 of these 28 (71%) fetuses had aneuploidy (trisomy 18 (n = 10), triploidy (n = 5), trisomy 13 (n = 3), Turner syndrome (n = 1) or trisomy 21 (n = 1)). There was only one false-positive case, in which the CP-4V was classified as absent in a normal fetus.

Conclusions: Non-visualization of the CP-4V in the first trimester appears to be a strong marker of posterior fossa anomalies and chromosomal defects. Qualitative evaluation of this anatomic structure is simple, feasible and reproducible, and its routine assessment during the first-trimester scan may facilitate the early detection of CNS anomalies and associated fetal aneuploidy. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Keywords: Blake's pouch cyst; Dandy-Walker malformation; choroid plexus; chromosomal defects; cisterna magna; first-trimester ultrasound; fourth ventricle; intracranial translucency; posterior fossa; spina bifida.