Prenatal evaluation of atelencephaly

Nagaraj, Usha D.; Lawrence, Anne K.; Vezina, L. Gilbert; Bulas, Dorothy; duPlessis, Adré J.

doi:10.1007/s00247-015-3440-7

Cited by 8 publications

(2 citation statements)

References 7 publications

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“…Our added interest in medically intervening and treating neurological, neurodegenerative and fetal brain disorders has also meant that we continue to dissect and explore brain tissues so that we may understand them better at both the cellular and molecular level. Current research on the fetal brain, for example, has led to new findings for varying disorders such as anencephaly, holoprosencephaly, and congenital brain defects and causes lying behind them [5678].…”

Section: Introductionmentioning

confidence: 99%

“…Another study culturing primary cortical neurons from week 12–16 human brains in relatively simple media, including minimum essential media supplemented with 10% fetal bovine serum (FBS) allowed for maintenance of cells in vitro for up to 3 weeks [26]. Use of particular reagents such as arabinofuranosylcytosine (AraC) has proved to successfully help prevent the over-proliferation of astrocytes in the cultures [826] and the presence of relatively high concentrations of serum have a positive effect on the survival of neurons. Finding a balance therefore in culturing fetal progenitors and young neurons together, therefore remains a challenge, since culture conditions promote the differentiation of either progenitors or neurons, rather than both.…”

Section: Introductionmentioning

confidence: 99%

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Isolation and culture of porcine primary fetal progenitors and neurons from the developing dorsal telencephalon

et al. 2019

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The development of long-term surviving fetal cell cultures from primary cell tissue from the developing brain is important for facilitating studies investigating neural development and for modelling neural disorders and brain congenital defects. The field faces current challenges in co-culturing both progenitors and neurons long-term. Here, we culture for the first time, porcine fetal cells from the dorsal telencephalon at embryonic day (E) 50 and E60 in conditions that promoted both the survival of progenitor cells and young neurons. We applied a novel protocol designed to collect, isolate and promote survival of both progenitors and young neurons. Herein, we used a combination of low amount of fetal bovine serum, together with pro-survival factors, including basic fibroblast growth factor and retinoic acid, together with arabinofuranosylcytosine and could maintain progenitors and facilitate in vitro differentiation into calbindin 1+ neurons and reelin+ interneurons for a period of 7 days. Further improvements to the protocol that might extend the survival of the fetal primary neural cells would be beneficial. The development of new porcine fetal culture methods is of value for the field, given the pig's neuroanatomical and developmental similarities to the human brain.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Isolation and culture of porcine primary fetal progenitors and neurons from the developing dorsal telencephalon

et al. 2019

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Prenatal diagnosis of holoprosencephaly

Kousa

Plessis

Vézina

2018

American J of Med Genetics Pt C

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Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Here, we report on the prenatal diagnosis of holoprosencephaly using MRI as part of a diagnostic and management evaluation at a tertiary and quaternary referral center. Using an advanced MRI protocol and a 1.5-Tesla magnet, we show radiographic data diagnostic for the holoprosencephaly spectrum, including alobar, semilobar, lobar, middle interhemispheric, and septopreoptic variant. Accurate prenatal evaluation is important because the severity of imaging findings correlates with postnatal morbidity and mortality in holoprosencephaly. Therefore, this work has implications for the evaluation, diagnosis, management, and genetic counseling that families can receive during a pregnancy.

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Neuropathology of holoprosencephaly

Fallet-Bianco

2018

American J of Med Genetics Pt C

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Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage of the forebrain with failure to form two separate distinct hemispheres. The spectrum of HPE is very broad and encompasses various neuropathological phenotypes of different severity. The recent literature has demonstrated that the phenotypic variability of HPE ranges from aprosencephaly-atelencephaly, at the most severe end, to milder forms such as the "middle interhemispheric variant" of HPE at the less severe end of the spectrum. Between them, different intermediate forms demonstrate a continuum in a wide phenotypic spectrum rather than well-defined categories. Although the term "HPE" suggests a disorder affecting only the prosencephalon, other brain structures are involved, underlining the complexity of the malformation. Because of close spatiotemporal interactions and common signaling pathways contributing to the development of both brain and face, concomitant facial and ocular anomalies are associated with brain malformation. In this review, the characteristic neuropathological features of the various forms of HPE are described as well as their associated brain, face, and ocular malformations, to delineate the different phenotypes.

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Prenatal evaluation of atelencephaly

Cited by 8 publications

References 7 publications

Isolation and culture of porcine primary fetal progenitors and neurons from the developing dorsal telencephalon

Isolation and culture of porcine primary fetal progenitors and neurons from the developing dorsal telencephalon

Prenatal diagnosis of holoprosencephaly

Neuropathology of holoprosencephaly

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