Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
Solveig Heide
(1, 1)
,
Myrtille Spentchian
(1, 1)
,
Stéphanie Valence
(2)
,
Julien Buratti
(1)
,
Corinne Mach
(1)
,
Elodie Lejeune
(1)
,
Valérie Olin
(1)
,
Marta Massimello
(1, 1)
,
Daphné Lehalle
(1, 1)
,
Linda Mouthon
(1, 1)
,
Sandra Whalen
(2)
,
Anne Faudet
(1, 1)
,
Cyril Mignot
(1, 1)
,
Catherine Garel
(2)
,
Eleonore Blondiaux
(2)
,
Mathilde Lefebvre
(2)
,
Geneviève Quenum-Miraillet
(2)
,
Sandra Chantot-Bastaraud
(2)
,
Mathieu Milh
(3)
,
Florence Bretelle
(4)
,
Vincent Des Portes
(5)
,
Laurent Guibaud
(5)
,
Audrey Putoux
(5)
,
Vassili Tsatsaris
(6)
,
Marta Spodenkiewic
(7)
,
Valérie Layet
(8)
,
Rodolphe Dard
(9)
,
Laurent Mandelbrot
(10)
,
Agnès Guet
(10)
,
Sébastien Moutton
(11)
,
Magali Gorce
(12)
,
Mathilde Nizon
(13)
,
Marie Vincent
(13)
,
Claire Beneteau
(13)
,
Marie-Amélie Rocchisanni
(14)
,
Alexandra Benachi
(15)
,
Julien Saada
(15)
,
Tania Attié-Bitach
(16)
,
Lucie Guilbaud
(2)
,
Paul Maurice
(2)
,
Stéphanie Friszer
(2)
,
Jean-Marie Jouannic
(2)
,
Thierry Billette de Villemeur
(2)
,
Marie-Laure Moutard
(2)
,
Boris Keren
(1)
,
Delphine Héron
(1, 1)
1
CHU Pitié-Salpêtrière [AP-HP]
2 CHU Trousseau [APHP]
3 Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM]
4 Service de gynécologie-obstétrique [Hôpital Nord - APHM]
5 HCL - Hospices Civils de Lyon
6 Service de Gynécologie et Obstétrique [Cochin]
7 CHU Reims - Hôpital universitaire Robert Debré [Reims]
8 Groupe Hospitalier du Havre
9 CHI Poissy-Saint-Germain
10 Hôpital Louis Mourier - AP-HP [Colombes]
11 CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
12 CHU Angers - Centre Hospitalier Universitaire d'Angers
13 CHU Nantes - Centre Hospitalier Universitaire de Nantes = Nantes University Hospital
14 AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris]
15 AP-HP - Hôpital Antoine Béclère [Clamart]
16 Hôpital Necker - Enfants Malades [AP-HP]
2 CHU Trousseau [APHP]
3 Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM]
4 Service de gynécologie-obstétrique [Hôpital Nord - APHM]
5 HCL - Hospices Civils de Lyon
6 Service de Gynécologie et Obstétrique [Cochin]
7 CHU Reims - Hôpital universitaire Robert Debré [Reims]
8 Groupe Hospitalier du Havre
9 CHI Poissy-Saint-Germain
10 Hôpital Louis Mourier - AP-HP [Colombes]
11 CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
12 CHU Angers - Centre Hospitalier Universitaire d'Angers
13 CHU Nantes - Centre Hospitalier Universitaire de Nantes = Nantes University Hospital
14 AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris]
15 AP-HP - Hôpital Antoine Béclère [Clamart]
16 Hôpital Necker - Enfants Malades [AP-HP]
Solveig Heide
- Fonction : Auteur
- PersonId : 1012475
- ORCID : 0000-0002-4673-9762
- IdRef : 18988438X
Sandra Chantot-Bastaraud
- Fonction : Auteur
- PersonId : 1182915
- IdHAL : sandra-chantot-bastaraud
- ORCID : 0000-0001-6446-3504
- IdRef : 090950348
Jean-Marie Jouannic
- Fonction : Auteur
- PersonId : 980060
- IdHAL : jean-marie-jouannic
- ORCID : 0000-0002-7890-3790
Résumé
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.
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