Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography

Lei, Ting; Jin, Feng; Xie, Yuan; Xie, Hong‐Ning; Zheng, Jin; Lin, Min

doi:10.1002/pd.5159

Cited by 14 publications

(27 citation statements)

References 33 publications

(36 reference statements)

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“…In Fällen mit oder ohne weitere fetale Auffälligkeiten konnte bei ca. 30 % der betroffenen Föten mit DWM eine Kopienzahlveränderung (mittels Array-CGH) festgestellt werden [55,56]. prognosis can be assumed, if in the case of an enlarged fourth ventricle, the brainstem, enlarged fourth ventricle and cisterna magna are still separately visible [45,46].…”

Section: Screening For Cystic Malformations Of the Posterior Fossaunclassified

“…Most cases of DWM are sporadic, but DWM can also be a feature of genetic syndromes. Copy number variations (CNVs) which can be detected by chromosomal microarray analysis (CMA) were found in 30 % of fetuses with isolated and nonisolated DWM [55,56].…”

Section: Dandy-walker Malformation (Dwm)mentioning

confidence: 99%

“…1 Drittel der Fälle ist intrauterin beim Fötus eine Rückbildung der Zyste zu beobachten. Bei Kindern mit isolierter BPC wurde in 90-100 % eine unauffällige Entwicklung beobachtet [54,57] und genetische Ursachen konnten nicht nachgewiesen werden [55].…”

Section: Blake's Pouch Cyst (Bpc)unclassified

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The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies

Pertl¹,

Eder²,

Stern³

et al. 2019

Ultraschall in Med

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Fetal neurosonography and the assessment of the posterior fossa have gained in importance during the last 2 decades primarily due to the development of high-resolution ultrasound probes and the introduction of 3 D sonography. The anatomical development of the posterior fossa can be visualized well with the newest ultrasound technologies. This allows better knowledge of the anatomical structures and helps with understanding of the development of malformations of the posterior fossa. In this article the longitudinal development of the posterior fossa structures will be reviewed. The embryologic description will be compared with ultrasound descriptions. These embryologic and anatomic illustrations form the basis for the screening and diagnosis of malformations of the posterior fossa. During the first trimester, screening for open spina bifida as well as cystic malformations of the posterior fossa is possible. In the second and third trimester, malformations of the posterior fossa can be subdivided into 3 groups: fluid accumulation in the posterior fossa (Dandy-Walker malformation, Blake’s pouch cyst, mega cisterna magna, arachnoid cyst, vermian hypoplasia), decreased cerebellar biometrics (volume) (cerebellar hypoplasia, pontocerebellar hypoplasia) and suspicious cerebellar anatomy (Arnold-Chiari malformation, rhombencephalosynapsis, Joubert syndrome). This algorithm, in combination with knowledge of normal development, facilitates the diagnostic workup of malformations of the posterior fossa.

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Section: Screening For Cystic Malformations Of the Posterior Fossaunclassified

Section: Dandy-walker Malformation (Dwm)mentioning

confidence: 99%

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The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies

Pertl¹,

Eder²,

Stern³

et al. 2019

Ultraschall in Med

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“…Magnetic resonance imaging (MRI) may support the diagnosis and especially help evaluate the associated cerebral and extracranial malformations to determine the underlying cause . Genetic factors are involved in DWM which may be a feature of Mendelian disorders or chromosomal aberrations . We aim to describe a novel association of DWM with type III lissencephaly with documented prenatal imaging and autopsy findings.…”

Section: Introductionmentioning

confidence: 99%

“…1,3 Genetic factors are involved in DWM which may be a feature of Mendelian disorders or chromosomal aberrations. 2,6 We aim to describe a novel association of DWM with type III lissencephaly with documented prenatal imaging and autopsy findings.…”

Section: Introductionmentioning

confidence: 99%

Prenatal sonographic diagnosis of Dandy‐Walker malformation and type III lissencephaly: A novel association

Darouich

Amraoui

2019

J of Clinical Ultrasound

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Dandy‐Walker malformation (DWM) may occur as part of Mendelian disorders such as Walker–Warburg and Meckel–Gruber syndromes. We report a novel association with type III lissencephaly in a 22‐week male fetus. Ultrasound showed fetal akinesia deformation sequence, single umbilical artery, microlissencephaly, hydranencephaly with cerebral lamination, DWM, and pontocerebellar hypoplasia. These abnormalities were confirmed by magnetic resonance imaging and autopsy, which also revealed pulmonary and adrenal hypoplasia, common mesentery and bilateral uretero‐pyelo‐calyceal dilatation. Neuropathological examination showed brain calcifications and diffuse neuronal degeneration. We conclude that DWM may be a feature of type III lissencephaly and that this association can be easily diagnosed by ultrasound.

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Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalities

Song

Xü

et al. 2020

Clinical Laboratory Analysis

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Background Central nervous system (CNS) abnormalities are a group of serious birth defects associated with high rates of stillbirths, infant death, or abnormal development, and various disease‐causing copy number variations play a much more important role in the etiology of CNS abnormalities. This study intends to present a retrospective study of the prenatal diagnosis and the pregnancy outcome of fetuses diagnosed with CNS abnormalities, and evaluate the clinical value of chromosomal microarray analysis (CMA) in prenatal diagnosis of CNS abnormalities. Methods A total of 356 fetuses with CNS abnormalities with or without other ultrasound abnormalities subjected to invasive prenatal diagnosis at the first affiliated hospital of Air Force Medical University from January 2015 to August 2018. All cases have performed both karyotyping and CMA concurrently, but 20 fetuses with chromosome aneuploidy were excluded in the current study. Results The CMA identified pathogenic copy number variants (pCNVs) in 27/336 (8.03%) fetuses, likely pCNVs in 8/336 (2.38%) fetuses, and variants of unknown significance (VOUS) in 11/336 (3.27%) fetuses. A total of 222 cases had single CNS abnormalities and the pCNVs detection rate was 5.86% (13/222), the remaining 114 cases including CNS abnormalities plus other structural abnormalities, ultrasonographic soft markers and two or more CNS abnormalities, the pCNVs detection rate was 12.3% (14/114). Conclusions Fetuses with CNS abnormalities have a higher risk of chromosomal abnormalities, our study showed that CNVs play an important role in the etiology of CNS abnormalities. The application of CMA could increase the detection rate of pCNVs causing CNS abnormalities.

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Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography

Abstract: The combined use of chromosomal microarray analysis and karyotype analysis might assist the prenatal diagnosis and management of PFAs, with extra-CNS structural abnormalities being detected by ultrasonography.

Cited by 14 publications

References 33 publications

The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies

The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies

Prenatal sonographic diagnosis of Dandy‐Walker malformation and type III lissencephaly: A novel association

Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalities

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