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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

التفاصيل البيبلوغرافية
العنوان: Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
المؤلفون: Nguyen T; Service de radiologie pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, DMU DIAMENT, GRC Images, Paris, France., Heide S; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Guilbaud L; Service de médecine fœtale, Hôpital Armand-Trousseau, Sorbonne Université, APHP, DMU ORIGYNE, Paris, France., Valence S; Service de neuropédiatrie, Hôpital Armand-Trousseau, Paris, France., Perre SV; Service de radiologie pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, DMU DIAMENT, GRC Images, Paris, France., Blondiaux E; Service de radiologie pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, DMU DIAMENT, GRC Images, Paris, France., Keren B; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Quenum-Miraillet G; Service de génétique médicale, Hôpital Armand-Trousseau, Paris, France., Jouannic JM; Service de médecine fœtale, Hôpital Armand-Trousseau, Sorbonne Université, APHP, DMU ORIGYNE, Paris, France., Mandelbrot L; Service de gynécologie obstétrique, Hôpital Louis-Mourier, Colombes, France., Picone O; Service de gynécologie obstétrique, Hôpital Louis-Mourier, Colombes, France., Guet A; Service de neuropédiatrie, Hôpital Louis-Mourier, Colombes, France., Tsatsaris V; Service de gynécologie obstétrique, Hôpital Cochin-Port Royal, Paris, France., Milh M; Service de neuropédiatrie, CHU de Marseille, AP-HM, Marseille, France., Girard N; Service de neuroradiologie, CHU de Marseille, AP-HM, Marseille, France., Vincent M; Service de génétique, CHU de Nantes, Nantes, France., Nizon M; Service de génétique, CHU de Nantes, Nantes, France., Poirsier C; Service de génétique, CHU de Reims, Reims, France., Vivanti A; Service de gynécologie obstétrique, CHU Antoine Béclère, Clamart, France., Benachi A; Service de gynécologie obstétrique, CHU Antoine Béclère, Clamart, France., Portes VD; Service de neuropédiatrie, Hôpital Femme Mère Enfant, Lyon, France., Guibaud L; Service d'imagerie pédiatrique et fœtale, Hôpital Femme Mère Enfant, Lyon, France., Patat O; Service de génétique médicale, Hôpital Purpan, Toulouse, France., Spentchian M; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Frugère L; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Héron D; Service de génétique médicale, Hôpital Pitié-Salpêtrière, Paris, France., Garel C; Service de radiologie pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, DMU DIAMENT, GRC Images, Paris, France.
المصدر: Prenatal diagnosis [Prenat Diagn] 2023 Jun; Vol. 43 (6), pp. 746-755. Date of Electronic Publication: 2023 May 23.
نوع المنشور: Multicenter Study; Journal Article
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
مواضيع طبية MeSH: Corpus Callosum*/diagnostic imaging , Ultrasonography, Prenatal*/methods, Pregnancy ; Female ; Humans ; Retrospective Studies ; Agenesis of Corpus Callosum/diagnostic imaging ; Agenesis of Corpus Callosum/genetics ; Magnetic Resonance Imaging/methods ; Genotype ; Phenotype ; Chloride Channels ; Prenatal Diagnosis
مستخلص: Objective: Recent studies have evaluated prenatal exome sequencing (pES) for abnormalities of the corpus callosum (CC). The objective of this study was to compare imaging phenotype and genotype findings.
Method: This multicenter retrospective study included fetuses with abnormalities of the CC between 2018 and 2020 by ultrasound and/or MRI and for which pES was performed. Abnormalities of the CC were classified as complete (cACC) or partial (pACC) agenesis of the CC, short CC (sCC), callosal dysgenesis (CD), interhemispheric cyst (IHC), or pericallosal lipoma (PL), isolated or not. Only pathogenic (class 5) or likely pathogenic (class 4) (P/LP) variants were considered.
Results: 113 fetuses were included. pES identified P/LP variants for 3/29 isolated cACC, 3/19 isolated pACC, 0/10 isolated sCC, 5/10 isolated CD, 5/13 non-isolated cACC, 3/6 non-isolated pACC, 8/11 non-isolated CD and 0/12 isolated IHC and PL. Associated cerebellar abnormalities were significantly associated with P/LP variants (OR = 7.312, p = 0.027). No correlation was found between phenotype and genotype, except for fetuses with a tubulinopathy and an MTOR pathogenic variant.
Conclusions: P/LP variants were more frequent in CD and in non-isolated abnormalities of the CC. No such variants were detected for fetuses with isolated sCC, IHC and PL.
(© 2023 John Wiley & Sons Ltd.)
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المشرفين على المادة: 0 (Chloride Channels)
تواريخ الأحداث: Date Created: 20230513 Date Completed: 20230612 Latest Revision: 20231117
رمز التحديث: 20231117
DOI: 10.1002/pd.6382
PMID: 37173814
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-0223
DOI:10.1002/pd.6382