In utero MRI diagnosis of fetal malformations in oligohydramnios pregnancies

Conclusion MRI is valuable in evaluating suspected fetal malformations especially those related to brain and urinary system when ultrasound is inconclusive owing to oligohydramnios. Fetal MRI can add findings that may modify prenatal diagnosis.
Source: The Egyptian Journal of Radiology and Nuclear Medicine - Category: Nuclear Medicine Source Type: research

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Abstract 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 descriptio...
Source: Ultraschall in der Medizin - Category: Radiology Authors: Tags: Ultraschall Med Source Type: research
Discussion Bardet-Biedl syndrome (BBS) is a rare disorder. It is usually considered an autosomal recessive disorder but there is significant intra-familial variability. There are multiple genes (~20 currently) involved and it is believed that the phenotypic variability is due to “…differences in the total mutational load across different BBS associated genes….” It is a ciliopathy where mutation changes in proteins in the cilias causes problems in the cilia’s functioning particularly signaling. Cilia are important in signaling to maintain tissue and cellular homeostasis. Obviously screening o...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
AbstractJoubert syndrome is a rare brainstem malformation characterized by hypoplastic vermis, thickened and elongated superior cerebellar peduncles, abnormally shaped 4th ventricle which may be associated with renal, ocular, hepatic orodigitofacial and cranial abnormalities and can be diagnosed on prenatal ultrasound and now is considered a part of Joubert syndrome and related syndromes (JSRD). Two prenatally detected cases of JSRD presented here expand the spectrum of sonological signs which should prompt a fetal medicine specialist to suspect JSRD.
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research
Ultrasound in Obstetrics&Gynecology,Volume 52, Issue S1, Page 233-233, October 2018.
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Source Type: research
Conclusion: Our study provides insights into prenatal and early diagnosis of JS and expands the variation spectrum of C5orf42 gene. PMID: 29955609 [PubMed - in process]
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Abstract OBJECTIVE: Prenatal diagnosis of midbrain-hindbrain malformations rely primarily on abnormal size and shape of the cerebellum and retrocerebellar space. The aim of this study was to present the 4th ventricle index (4VI), and to evaluate its role as a marker of severe vermian dysgenesis / agenesis cases without an open 4th ventricle (4v). METHODS: This prospective cross-sectional study included 384 healthy fetuses between 14 to 37 gestational weeks. Axial images of the 4v were obtained and the 4VI was calculated as the ratio between the latero-lateral and anteroposterior diameters. Reference ranges we...
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Abstract ObjectivePrenatal diagnosis of midbrain‐hindbrain malformations rely primarily on abnormal size and shape of the cerebellum and retrocerebellar space. The aim of this study was to present the 4th ventricle index (4VI), and to evaluate its role as a marker of severe vermian dysgenesis / agenesis cases without an open 4th ventricle (4v). MethodsThis prospective cross‐sectional study included 384 healthy fetuses between 14 to 37 gestational weeks. Axial images of the 4v were obtained and the 4VI was calculated as the ratio between the latero‐lateral and anteroposterior diameters. Reference ranges were construct...
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Tags: Original Paper Source Type: research
Three pregnant women were detected with their fetuses showing abnormalities in the mid-hindbrain by prenatal ultrasound and magnetic resonance imaging (MRI) examination. The “molar tooth sign” appeared between the superior cerebellar peduncle and the midbrain. These fetuses were all diagnosed with Joubert syndrome with MRI. The diagnosis of Joubert syndrome during pregnancy is very rare. MRI examination during pregnancy is very important for the diagnosis of Joubert syndrome. The “molar tooth sign” and the crevice between the hemispherium cerebelli can be used for early detection of Joubert syndrome.
Source: Taiwanese Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Research Letter Source Type: research
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Tags: Abstracts Source Type: research
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Tags: Abstracts Source Type: research
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