Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
agenesis of the corpus callosum
anomaly of the corpus callosum
exome sequencing
prenatal
prenatal exome sequencing
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
11
01
2020
accepted:
07
06
2020
revised:
26
05
2020
pubmed:
23
6
2020
medline:
29
4
2021
entrez:
23
6
2020
Statut:
ppublish
Résumé
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). 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. 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. 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.
Identifiants
pubmed: 32565546
doi: 10.1038/s41436-020-0872-8
pii: S1098-3600(21)00766-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1887-1891Références
Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 2014;137:1579–1613.
pubmed: 24477430
pmcid: 24477430
Glass HC, Shaw GM, Ma C, Sherr EH. Agenesis of the corpus callosum in California 1983-2003: a population-based study. Am J Med Genet A. 2008;146A:2495–2500.
pubmed: 18642362
pmcid: 18642362
Schaefer GB, Bodensteiner JB. Radiological findings in developmental delay. Semin Pediatr Neurol. 1998;5:33–38.
pubmed: 9548639
pmcid: 9548639
Achiron R, Achiron A. Development of the human fetal corpus callosum: a high-resolution, cross-sectional sonographic study. Ultrasound Obstet Gynecol. 2001;18:343–347.
pubmed: 11778993
pmcid: 11778993
Santirocco M, Rodó C, Illescas T, et al. Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies. J Matern Fetal Neonatal Med. 2019. https://doi.org/10.1080/14767058.2019.1609931 [Epub ahead of print].
Moutard M-L, Kieffer V, Feingold J, et al. Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?). Prenat Diagn. 2012;32:277–283.
pubmed: 22430728
pmcid: 22430728
Sotiriadis A, Makrydimas G. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol. 2012;206:337.e1–337.e5.
des Portes V, Rolland A, Velazquez-Dominguez J, et al. Outcome of isolated agenesis of the corpus callosum: a population-based prospective study. Eur J Paediatr Neurol. 2018;22:82–92.
pubmed: 28947381
pmcid: 28947381
Bedeschi MF, Bonaglia MC, Grasso R, et al. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006;34:186–193.
pubmed: 16504787
pmcid: 16504787
Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A. 2008;146A:2501–2511.
pubmed: 18792984
pmcid: 2774850
Heide S, Keren B, Billette de Villemeur T, et al. Copy number variations found in patients with a corpus callosum abnormality and intellectual disability. J Pediatr. 2017;185:160–.e1.
pubmed: 28284480
Lord J, McMullan DJ, Eberhardt RY, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019;393:747–757.
pubmed: 30712880
pmcid: 6386638
Chandler N, Best S, Hayward J, et al. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. Genet Med. 2018;20:1430–1437.
pubmed: 29595812
Pangalos C, Hagnefelt B, Lilakos K, Konialis C. First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects. PeerJ. 2016;4:e1955.
pubmed: 27168972
pmcid: 27168972
de Koning MA, Haak MC, Adama van Scheltema PN, et al. From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care. Genet Med. 2019;21:2303–2310.
pubmed: 30918357
pmcid: 30918357
Rasmussen SA, Olney RS, Holmes LB, et al. Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res Part A Clin Mol Teratol. 2003;67:193–201.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–424.
pubmed: 25741868
pmcid: 25741868
Abou Tayoun A, Mason-Suares H. Considerations for whole exome sequencing unique to prenatal care. Hum Genet. 2019. https://doi.org/10.1007/s00439-019-02085-7 [Epub ahead of print].
Malinger G, Zakut H. The corpus callosum: normal fetal development as shown by transvaginal sonography. AJR Am J Roentgenol. 1993;161:1041–1043.
pubmed: 8273605
pmcid: 8273605