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Article Dans Une Revue Ultrasound in Obstetrics and Gynecology = Ultrasound in Obstetrics & Gynecology Année : 2023

Spectrum of brain malformations in fetuses with mild tubulinopathy

R. Hagege
  • Fonction : Auteur
K. Krajden Haratz
G. Malinger
L. Ben‐sira
  • Fonction : Auteur
Z. Leibovitz
D. Heron
  • Fonction : Auteur
  • PersonId : 1392832
R. Birnbaum
S. Valence
  • Fonction : Auteur
J.‐m. Jouannic
C. Garel
  • Fonction : Auteur

Résumé

To report on a large cohort of fetuses with mild forms of tubulinopathy and to define prenatal ultrasound and magnetic resonance imaging (MRI) features that can facilitate prenatal diagnosis. Methods This was a retrospective multicenter study of fetuses diagnosed between January 2007 and February 2022 with a mild tubulinopathy (without lissencephaly or microlissencephaly). We collected and reviewed brain imaging and genetic data, and defined major criteria as findings observed in ≥ 70% of the patients and minor criteria as those observed in ≥ 50% but 70% of the patients. Results Our cohort included 34 fetuses. The mean gestational age at ultrasound screening, when suspicion of a central nervous system anomaly was first raised, was 24.2 (range, 17–33) weeks. Callosal anomalies (n = 19 (56%)) and abnormal ventricles (n = 18 (53%)) were the main reasons for referral. The mean gestational age at neurosonography was 28.3 (range, 23–34) weeks and that at MRI was 30.2 (range, 24–35) weeks. Major ultrasound criteria were midline distortion, ventricular asymmetry, dysmorphic and/or dilated frontal horn(s) and abnormal Brain in prenatal mild tubulinopathy sulcation. Minor ultrasound criteria were distortion of the cavum septi pellucidi, abnormal corpus callosum, absent or asymmetric olfactory sulci, ventriculomegaly and basal ganglia dysmorphism. Major MRI criteria were midline distortion, distortion of the cavum septi pellucidi, ventricular asymmetry, dilatation (generally unilateral) and/or distortion, dysmorphic and/or dilated frontal horn(s) and abnormal sulcation (mainly dysgyria). Minor MRI criteria were absent or asymmetric olfactory sulci, abnormal bulge of the pons, anteroposterior diameter of the pons ≤ 5th centile and brainstem asymmetry. A mutation was found in TUBB3 (44.1% of cases), TUBB (23.5%), TUBB2B (14.7%) or TUBA1A (17.6%). The mutation was inherited from a parent in 18/34 cases. The pregnancy was terminated in 23/34 cases. Conclusions Prenatal diagnosis of mild forms of tubu- linopathy is possible but challenging. We have defined, in this large series of fetuses, major and minor criteria that can help identify this entity in utero. Most find- ings can be visualized on ultrasound. This evaluation is also important for prenatal counseling. Once a prenatal diagnosis of mild tubulinopathy is suspected, the family members should be referred for exome sequencing and MRI. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology
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hal-04351182 , version 1 (18-12-2023)

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R. Hagege, K. Krajden Haratz, G. Malinger, L. Ben‐sira, Z. Leibovitz, et al.. Spectrum of brain malformations in fetuses with mild tubulinopathy. Ultrasound in Obstetrics and Gynecology = Ultrasound in Obstetrics & Gynecology, 2023, 61 (6), pp.740-748. ⟨10.1002/uog.26140⟩. ⟨hal-04351182⟩
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