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. 2020 Nov;22(11):1887-1891.
doi: 10.1038/s41436-020-0872-8. Epub 2020 Jun 22.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Solveig Heide  1 , Myrtille Spentchian  2 , Stéphanie Valence  3 , Julien Buratti  4 , Corinne Mach  4 , Elodie Lejeune  4 , Valérie Olin  4 , Marta Massimello  2 , Daphné Lehalle  2 , Linda Mouthon  2 , Sandra Whalen  5 , Anne Faudet  2 , Cyril Mignot  2 , Catherine Garel  6 , Eleonore Blondiaux  6 , Mathilde Lefebvre  7 , Geneviève Quenum-Miraillet  8 , Sandra Chantot-Bastaraud  8 , Mathieu Milh  9 , Florence Bretelle  10 , Vincent des Portes  11 , Laurent Guibaud  12 , Audrey Putoux  13 , Vassili Tsatsaris  14 , Marta Spodenkiewic  15 , Valérie Layet  16 , Rodolphe Dard  17 , Laurent Mandelbrot  18 , Agnès Guet  19 , Sébastien Moutton  20 , Magali Gorce  21 , Mathilde Nizon  22 , Marie Vincent  22 , Claire Beneteau  22 , Marie-Amélie Rocchisanni  23 , Alexandra Benachi  24 , Julien Saada  24 , Tania Attié-Bitach  25 , Lucie Guilbaud  26 , Paul Maurice  26 , Stéphanie Friszer  26 , Jean-Marie Jouannic  26 , Thierry Billette de Villemeur  3 , Marie-Laure Moutard  3 , Boris Keren #  4 , Delphine Héron #  2
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Free article

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Solveig Heide et al. Genet Med. 2020 Nov.
Free article

Abstract

Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnostic yield using chromosomal microarray (CMA) and exome sequencing (ES) in cases with prenatally diagnosed isolated (iAbnCC) and nonisolated AbnCC (niAbnCC).

Methods: CMA and prenatal trio ES (pES) were done on 65 fetuses with iAbnCC and niAbnCC. Only pathogenic gene variants known to be associated with AbnCC and/or intellectual disability were considered.

Results: pES results were available within a median of 21.5 days (9-53 days). A pathogenic single-nucleotide variant (SNV) was identified in 12 cases (18%) and a pathogenic CNV was identified in 3 cases (4.5%). Thus, the genetic etiology was determined in 23% of cases. In all diagnosed cases, the results provided sufficient information regarding the neurodevelopmental prognosis and helped the parents to make an informed decision regarding the outcome of the pregnancy.

Conclusion: Our results show the significant diagnostic and prognostic contribution of CMA and pES in cases with prenatally diagnosed AbnCC. Further prospective cohort studies with long-term follow-up of the born children will be needed to provide accurate prenatal counseling after a negative pES result.

Keywords: agenesis of the corpus callosum; anomaly of the corpus callosum; exome sequencing; prenatal; prenatal exome sequencing.

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