Deep phenotyping using foetal MRI

doi:10.1515/medgen-2026-2005

2026-04-13

Gregor Kasprian *

Christian Mitter

Moser, Philipp

DOI：10.1515/medgen-2026-2005

原文链接

原文求助

摘要

En 中文

有效结合产前超声和胎儿MRI可最大化胎儿医学的诊断可能性。胎儿MRI提供极佳的软组织对比度和对大脑、身体及胎盘的详细评估。它特别适用于评估中枢神经系统异常、复杂综合征、肺发育不良以及消化道和泌尿生殖道的结构异常。在专家中心进行的MRI表型分析能够实现详细的结构特征描述，支持基因型-表型关联并优化风险评估。胎儿MRI被认为在妊娠18周后安全，新兴研究正在探索其在孕早期的应用。当结合基因检测和专家超声时，胎儿MRI能够实现个性化的深度表型评估。这种综合方法对于复杂先天性疾病的准确产前诊断、风险分层和咨询至关重要。MRI并非用于确认或反驳超声诊断，而是可以更高效地使用。遵循“深入探索，认知更广”的理念，“MRI表型分析”可被视为未来产前医学的重要概念。

Keyword:

prenatal diagnosis

central nervous system anomalies

phenotype

neurodevelopmental disorders

fetal diseases/diagnostic imaging

期刊

Medizinische Genetik

IF:

1.4

论文数:

被引数:

机构

Medical University of Vienna

学者数:

3.7W

论文数: 2.5W

被引数: 3.1W

引用论文

ISUOG Practice Guidelines (updated): performance of fetal magnetic resonance imaging

ULTRASOUND IN OBSTETRICS & GYNECOLOGY

IF6.3

2023-02-01

OAAI

Prayer, D.; Malinger, G.; De Catte, L.; De Keersmaecker, B.; Goncalves, L. F.; Kasprian, G.; Laifer-Narin, S.; Lee, W.; Millischer, A. -E.; Platt, L.; Prayer, F.; Pugash, D.; Salomon, L. J.; Cortes, M. Sanz; Stuhr, F.; Timor-Tritsch, I. E.; Tutschek, B.; Twickler, D.; Raine-Fenning, N.

Use of MRI in the diagnosis of fetal brain abnormalities in utero (MERIDIAN): a multicentre, prospective cohort study

LANCET

IF88.5

2017-02-01

236

OAAI

Griffiths, Paul D.; Bradburn, Michael; Campbell, Michael J.; Cooper, Cindy L.; Graham, Ruth; Jarvis, Deborah; Kilby, Mark D.; Mason, Gerald; Mooney, Cara; Robson, Stephen C.; Wailoo, Allan

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation 65例胼胝体异常胎儿的产前外显子组测序: 对进一步诊断的贡献

GENETICS IN MEDICINE

IF6.2

2020-11-01

OAAI

Heide, Solveig; Spentchian, Myrtille; Valence, Stephanie; Buratti, Julien; Mlt, Corinne Mach; Lejeune, Elodie; Olin, Valerie; Massimello, Marta; Lehalle, Daphne; Mouthon, Linda; Whalen, Sandra; Faudet, Anne; Mignot, Cyril; Garel, Catherine; Blondiaux, Eleonore; Lefebvre, Mathilde; Quenum-Miraillet, Genevieve; Chantot-Bastaraud, Sandra; Milh, Mathieu; Bretelle, Florence; des Portes, Vincent; Guibaud, Laurent; Putoux, Audrey; Tsatsaris, Vassili; Spodenkiewic, Marta; Layet, Valerie; Dard, Rodolphe; Mandelbrot, Laurent; Guet, Agnes; Moutton, Sebastien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Beneteau, Claire; Rocchisanni, Marie-Amelie; Benachi, Alexandra; Saada, Julien; Attie-Bitach, Tania; Guilbaud, Lucie; Maurice, Paul; Friszer, Stephanie; Jouannic, Jean-Marie; de Villemeur, Thierry Billette; Moutard, Marie-Laure; Keren, Boris; Heron, Delphine

MRI of normal fetal brain development 正常胎儿脑发育的MRI

EUROPEAN JOURNAL OF RADIOLOGY

IF3.3

2006-02-01

171

PREAI

Prayer, D; Kasprian, G; Krampl, E; Ulm, B; Witzani, L; Prayer, L; Brugger, PC

ARID1B controls transcriptional programs of axon projection in the human corpus callosum

IF0

2023-05-04

OAAI

Catarina Martins-Costa; Vincent A. Pham; Andrea Wiegers; Jaydeep Sidhaye; Balint Doleschall; Maria Novatchkova; Thomas Lendl; Marielle Piber; Angela Peer; Paul Möseneder; Marlene Stuempflen; Siu Yu A. Chow; Rainer Seidl; Daniela Prayer; Romana Höftberger; Gregor Kasprian; Yoshiho Ikeuchi; Nina S. Corsini; Jürgen A. Knoblich

Improved neurodevelopmental prognostication in isolated corpus callosal agenesis: fetal magnetic resonance imaging-based scoring system

ULTRASOUND IN OBSTETRICS & GYNECOLOGY

IF6.3

2021-07-01

OAAI

Diogo, M. C.; Glatter, S.; Prayer, D.; Gruber, G. M.; Bettelheim, D.; Weber, M.; Dovjak, G.; Seidl, R.; Kasprian, G.

Safety of MR Imaging at 1.5 T in Fetuses: A Retrospective Case-Control Study of Birth Weights and the Effects of Acoustic Noise

RADIOLOGY

IF15.2

2015-05-01

PREAI

Strizek, Brigitte; Jani, Jacques C.; Mucyo, Eugene; de Keyzer, Frederik; Pauwels, Inge; Ziane, Samir; Mansbach, Anne-Laure; Deltenre, Paul; Cos, Teresa; Cannie, Mieke M.

Specific Absorption Rate and Specific Energy Dose: Comparison of 1.5-T versus 3.0-T Fetal MRI

RADIOLOGY

IF15.2

2020-06-01

PREAI

Barrera, Christian A.; Francavilla, Michael L.; Serai, Suraj D.; Edgar, J. Christopher; Jaimes, Camilo; Gee, Michael S.; Roberts, Timothy P. L.; Otero, Hansel J.; Adzick, N. Scott; Victoria, Teresa

WED-175 Intrauterine blood transfusion causes dose- and time-dependent signal alterations in the liver and the spleen on fetal magnetic resonance imaging

Journal of Hepatology

IF0

2024-06-01

PREAI

Schwarz,Michael; Schmidbauer,Victor; Nowak,Nikolaus; Kienast,Patric; Watzenboeck,Martin; Stuempflen,Marlene; Schwarz,Caroline; Bettelheim,Dieter; Haberl,Christina; Binder,Julia; Kiss,Herbert; Reiberger,Thomas; Prayer,Daniela; Kasprian,Gregor

The Subplate Layers: The Superficial and Deep Subplate Can be Discriminated on 3 Tesla Human Fetal Postmortem MRI

Cerebral Cortex

IF0

2020-05-07

PREAI

Ivana Pogledic; Ernst Schwartz; Christian Mitter; Pascal Baltzer; Ruxandra-Iulia Milos; Gerlinde Maria Gruber; Peter C Brugger; Johannes Hainfellner; Dieter Bettelheim; Georg Langs; Gregor Kasprian; Daniela Prayer

查看更多内容