Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

Zou, Zhiyong; Huang, Liwu; Lin, Shaobin; He, Zhiming; Zhu, Hui; Zhang, Yi; Fang, Qun; Luo, Yang

doi:10.1002/pd.5190

Cited by 17 publications

(24 citation statements)

References 51 publications

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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%

“…Severe gross motor delay is present in most cases, as well as intellectual disability [60]. CNVs are found in one third of fetuses with isolated cerebellar hypoplasia, while the rate is 89 % in fetuses with additional malformations [56].…”

Section: Cerebellar Hypoplasiamentioning

confidence: 99%

“…According to the current literature, copy number variations can be found in 30-50 % of cases with isolated vermian hypoplasia. However, sample sizes are very small [55,56].…”

Section: Rhombenzephalosynapsis (Res)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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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%

Section: Cerebellar Hypoplasiamentioning

confidence: 99%

“…According to the current literature, copy number variations can be found in 30-50 % of cases with isolated vermian hypoplasia. However, sample sizes are very small [55,56].…”

Section: Rhombenzephalosynapsis (Res)mentioning

confidence: 99%

See 2 more Smart Citations

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

Pertl¹,

Eder²,

Stern³

et al. 2019

Ultraschall in Med

View full text Add to dashboard Cite

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“…Its pathophysiology is unknown and may be multifactorial. Some cases of DWM are isolated, although the diagnosis may be made as part of a syndrome or attributable to a genetic defect impacting mesenchymal tissue and cell signaling in the posterior fossa; specific genetic defects have been implicated in the manifestation of DWM, including zinc finger protein of cerebellum 2 (ZIC2), ZIC5, forkhead box C1 (FOXC1), and fibroblast growth factor 17 (FGF17) [26][27][28][29][30][31][32]. Infectious and vascular etiologies have also been implicated 33,34.…”

mentioning

confidence: 99%

Establishment of normative values for the fetal posterior fossa by magnetic resonance imaging

et al. 2018

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Objective Suspected Dandy‐Walker continuum anomalies constitute a significant percentage of prenatal cases evaluated by magnetic resonance imaging (MRI). To unify the description of posterior fossa malformations, we sought to establish objective measurements for the posterior fossa in normal fetuses between 18 and 37 weeks gestation. Methods T2‐weighted images of normal fetal brains in sagittal projection were obtained from fetal magnetic resonance (MR) studies of normal brains performed from 2009 to 2017.121 fetal brains were included in the analysis. Three radiologists reviewed images and recorded the following for each case: superior posterior fossa angle (SPFA), posterior fossa perimeter, and tegmento‐vermian angle (TVA). Results For each feature, the mean of the measurements, the percentage of absolute difference of the reader measurement compared with mean measurement, and the interclass correlation (ICC) were calculated. Values are reported as mean ± standard deviation. Perimeter increases linearly with age, whereas the SPFA and the TVA are independent of gestational age. For all included cases, the SPFA averaged 100.9° ± 8° and the TVA averaged 2.5° ± 2.3°. Conclusion The superior posterior fossa angle, a novel measurement, and the posterior fossa perimeter can be used for establishing the expected size of the posterior fossa in second‐ and third‐trimester fetuses by MRI.

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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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Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

Abstract: Among fetuses with PFA, those with cerebellar hypoplasia, vermis hypoplasia, or Dandy-Walker malformation are at the highest risk of clinically significant CNVs. Chromosomal microarray analysis revealed the most frequent chromosomal aberrations associated with CH.

Cited by 17 publications

References 51 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

Establishment of normative values for the fetal posterior fossa by magnetic resonance imaging

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

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