Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome

Kline‐Fath, Beth M.; Arroyo, Monica S.; Calvo-Garcia, Maria A.; Horn, Paul S.; Thomas, Cameron

doi:10.1002/pd.5361

Cited by 11 publications

(5 citation statements)

References 19 publications

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“…Fetal ultrasound is relatively sensitive and specific in the diagnosis. The two most frequently reported sonographic signs are the "lemon sign" marked by bifrontal concavity of the calvarium, seen in 98% of cases before 24 weeks GA, and the "banana sign" marked by appearance of the cerebellum wrapped around the brainstem [26,27]. While fetal MRI does not typically add to the specificity of diagnosis, fetal MRI in this patient population is of particular importance in the context of fetal surgery.…”

Section: Chiari II Malformationmentioning

confidence: 99%

Clinical Applications of Fetal MRI in the Brain

Nagaraj

Kline‐Fath

2022

Diagnostics

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Fetal magnetic resonance imaging (MRI) has become a widely used tool in clinical practice, providing increased accuracy in prenatal diagnoses of congenital abnormalities of the brain, allowing for more accurate prenatal counseling, optimization of perinatal management, and in some cases fetal intervention. In this article, a brief description of how fetal ultrasound (US) and fetal MRI are used in clinical practice will be followed by an overview of the most common reasons for referral for fetal MRI of the brain, including ventriculomegaly, absence of the cavum septi pellucidi (CSP) and posterior fossa anomalies.

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Section: Chiari II Malformationmentioning

confidence: 99%

Clinical Applications of Fetal MRI in the Brain

Nagaraj

Kline‐Fath

2022

Diagnostics

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“…Fetal MRI can diagnose rhomboencephalosynapsis and dystroglycanopathy‐related cerebellar dysplasia. Ventriculomegaly in the setting of these anomalies is highly likely to be related to FAS . Whether or not there will be a role for prenatal intervention for FAS when associated with these diagnoses is to be determined, as a complete risk‐benefit assessment for both mother and fetus/newborn has not yet been defined.…”

Section: Role Of Mri In Prenatal Diagnosis Of Fasmentioning

confidence: 99%

Fetal aqueductal stenosis: Prenatal diagnosis and intervention

2019

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Fetal severe central nervous system ventriculomegaly is associated with poor neurologic outcomes, usually driven by a primary malformation, deformation, or disruption of brain parenchyma. In utero shunting of excess cerebrospinal fluid (CSF) in hopes of improving neurologic outcomes was attempted in the 1980s but was abandoned due to perceived lack of effect, likely due to technological limitations of the time that precluded proper patient selection. Little progress on the antenatal management of severe ventriculomegaly has been made in the intervening decades. A multidisciplinary, evidence‐based reassessment of ventriculoamniotic shunting for isolated fetal aqueductal stenosis (FAS), a unique form of severe ventriculomegaly (supratentorial intracranial hypertension), is currently underway. An accurate diagnosis of FAS must precede in utero intervention. Magnetic resonance imaging (MRI) will be an excellent adjunct to high‐resolution prenatal ultrasound and next‐generation genetic testing to correctly diagnose FAS in a timely fashion while excluding other intracranial and extracranial anomalies. This manuscript will briefly discuss the history, current management, and future directions of the prenatal diagnosis and potential intervention for FAS.

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Section: Discussionmentioning

confidence: 99%

“…Our data also demonstrate a high rate of associated pontine anomalies in both complete and partial RES, whereas none was observed in Pasquier's neuropathological study. Using MRI, Kline-Fath et al 22 and McAuliffe et al 11 described variable degrees of cerebellar and pontine hypoplasia in fetuses with RES. We assume that the high rate of brainstem anomalies in our series is due to the novel and very comprehensive midbrain-hindbrain imaging protocol applied, confirming the ability of fetal neurosonography and MRI to detect accurately the wide spectrum of anomalies associated with RES that is known from postnatal publications 6,8,49 .…”

Section: Following Its Original Description In 1914 Bymentioning

confidence: 99%

“…While its neuroimaging features have been discussed in the adult and pediatric literature, in prenatal studies they have scarcely been addressed 6–10 . The classical prenatal features of RES have been described in case reports (82 cases) 4,11–33 , yet the associated brain anomalies, degree of vermian agenesis and clinical significance have not been investigated in a large prenatal series.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly

Haratz

Szejnfeld

Govindaswamy

et al. 2021

Ultrasound in Obstet & Gyne

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What are the novel findings of this work?This study provides tools for the prenatal diagnosis of different types of rhombencephalosynapsis (RES) and the identification of central-nervous-system-associated findings. Partial RES often presents with near-normal cerebellar morphology in axial views and poses a considerable diagnostic challenge. Brainstem anomalies are commonly present, possibly being an inherent part of the midbrain-hindbrain malformative process leading to RES. What are the clinical implications of this work?RES should be considered in every fetus with transverse cerebellar diameter < 3 rd centile, flattening or absence of the valleculla (round-shaped cerebellum) and early

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Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome

Abstract: CAS has a high association with RES. Feeding assistance in the NICU and earlier neurosurgical intervention may be required in patients with CAS who also have RES.

Cited by 11 publications

References 19 publications

Clinical Applications of Fetal MRI in the Brain

Clinical Applications of Fetal MRI in the Brain

Fetal aqueductal stenosis: Prenatal diagnosis and intervention

Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly

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