Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern

Ho, Yoona; Turley, Michelle; Marc-Aurele, Krishelle; Jones, Marilyn C.; Housman, Elise; Engelkemier, Dawn; Romine, Lorene E.; Khanna, Paritosh C.; Pretorius, Dolores H.

doi:10.7863/ultra.16.06081

Cited by 15 publications

(16 citation statements)

References 39 publications

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“…Genetic abnormalities are found in only 1% of cases, but mutations in HESX1 , SOX1 , SOX2 (with severe eye defects and other anomalies), SOX3 , OTOX2 , and FGF8 have all been implicated . The significance of an enlarged (>10 mm) CSP is controversial, but it can be a sign of a CSP cyst and associated with other findings, including chromosomal abnormalities …”

Section: Common Prenatally Diagnosed Cns Defectsmentioning

confidence: 99%

Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review

Veyver

2019

Prenatal Diagnosis

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Developmental brain abnormalities are complex and can be difficult to diagnose by prenatal imaging because of the ongoing growth and development of the brain throughout pregnancy and the limitations of ultrasound, often requiring fetal magnetic resonance imaging as an additional tool. As for all major structural congenital anomalies, amniocentesis with chromosomal microarray and a karyotype is the first‐line recommended test for the genetic work‐up of prenatally diagnosed central nervous system (CNS) abnormalities. Many CNS defects, especially neuronal migration defects affecting the cerebral and cerebellar cortex, are caused by single‐gene mutations in a large number of different genes. Early data suggest that prenatal diagnostic exome sequencing for fetal CNS defects will have a high diagnostic yield, but interpretation of sequencing results can be complex. Yet a genetic diagnosis is important for prognosis prediction and recurrence risk counseling. The evaluation and management of such patients is best done in a multidisciplinary team approach. Here, we review general principles of the genetic work‐up for fetuses with CNS defects and review categories of genetic causes of prenatally diagnosed CNS phenotypes.

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Section: Common Prenatally Diagnosed Cns Defectsmentioning

confidence: 99%

Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review

Veyver

2019

Prenatal Diagnosis

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“…A recent publication, however, has raised concern about 'prominent' (i.e. persistent and wide) septum pellucidum in young adults [16] and in foetuses [17].…”

Section: Discussionmentioning

confidence: 99%

“…Most published reports about the normal foetal CSPV to date are based on ultrasound and it is reported that the normal CSPV is robustly demonstrated on that modality. Ho et al [17] reviewed the recent literature and quote three papers [18][19][20] that report visualisation of CSPV in close to 100% of cases although the inability to visualise the associated anatomical structures (fornices and corpus callosum) consistently is well recognised. It is likely, on theoretical grounds, that iuMR imaging will improve definition of the CSPV and extend visualisation to include robust recognition of the fornices and corpus callosum.…”

Section: Discussionmentioning

confidence: 99%

Normal appearances and dimensions of the foetal cavum septi pellucidi and vergae on in utero MR imaging

Jarvis

Griffiths

2020

Neuroradiology

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The aim of this study is to provide normative data about the appearances and dimensions of the cavum septi pellucidi and vergae (CSPV) on in utero MR (iuMR) imaging in second and third trimester foetuses. Methods Two hundred normal foetuses (from a low-risk pregnancy, with normal antenatal USS findings and no intracranial abnormality of iuMR) had iuMR imaging between 18 and 37 gestational weeks (gw). The anatomical features on those studies were compared with published atlases of post-mortem foetal brains. The length, width and volume of the CSPV were measured in all foetuses. Results The anatomy of the CSPV and its relationship with the corpus callosum and the fornices on iuMR imaging was comparable with post-mortem data at all gestational ages studied. The length of the CSPV increased throughout pregnancy, whereas the width and volume of CSPV reached a maximum between 29 and 31 gw and then showed a reduction later in pregnancy. Conclusion The iuMR imaging features of the CSPV and its close anatomical relations closely correspond to post-mortem data. The CSPV was patent in all cases but we have shown that closure commences in the midpart of the third trimester and advances in a posterior to anterior direction.

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“…Even when the CSP is present, its size and shape should be assessed for deviations from the norm. A CSP with a large width may indicate an increased risk of numeric or structural chromosomal abnormality . An abnormal ratio of the CSP length and width is considered to be an indirect sign of partial agenesis of the corpus callosum (pACC) .…”

Section: Introductionmentioning

confidence: 99%

“…A CSP with a large width may indicate an increased risk of numeric or structural chromosomal abnormality. [8][9][10] An abnormal ratio of the CSP length and width is considered to be an indirect sign of partial agenesis of the corpus callosum (pACC). 11,12 However, different studies have used different techniques and planes to measure the CSP.…”

Section: Introductionmentioning

confidence: 99%

An investigation of the standardization of fetal cavum septi pellucidi measurements using three‐dimensional volumes of the fetal head

Zhao

Cai

Wang

2019

J of Clinical Ultrasound

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Purpose The purpose of this study was to measure the maximal width, middle width, and length of the cavum septi pellucidi (CSP) in normal fetuses, and compare these measurements obtained in the transthalamic (TT) plane with those obtained in the transventricular (TV) plane. Method A prospective study was conducted of normal singleton fetuses, ranging from 18 to 36 weeks in gestational age. In each case, a three‐dimensional volume of the fetal head was obtained in the TT plane for further offline measurements, then the maximal width, middle width, and length of the CSP in both the TT and TV planes were measured. Intraobserver and interobserver reproducibility was assessed, and curve estimation was used to assess the possible relationship between these measurements of CSP and gestational age (GA). Results A total of 267 normal fetuses were studied. The CSP width and length in TT and TV planes as a function of GA were analyzed using a quadratic regression model. Intraobserver and interobserver agreement of the CSP measurements was excellent overall (ICCs >0.9), with intraobserver and interobserver differences of less than 4%. Conclusion Measurements of CSP in the TT and TV planes are equally reproducible.

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Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern

Cited by 15 publications

References 39 publications

Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review

Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review

Normal appearances and dimensions of the foetal cavum septi pellucidi and vergae on in utero MR imaging

An investigation of the standardization of fetal cavum septi pellucidi measurements using three‐dimensional volumes of the fetal head

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