Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
received:
13
12
2021
accepted:
19
04
2022
revised:
05
03
2022
pubmed:
17
5
2022
medline:
6
8
2022
entrez:
16
5
2022
Statut:
ppublish
Résumé
Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES interpretation thanks to a blindly reanalysis of postmortem ES data using prenatal data only in fetuses affected by MCA and harboring a (likely)pathogenic variant or a variant of unknown significance (VUS). Prenatal ES identified all causative variant previously reported by postmortem ES (22/24 (92%) and 2/24 (8%) using solo-ES and trio-ES respectively). Prenatal ES identified 5 VUS (in four fetuses). Two of them have been previously reported by postmortem ES. Prenatal ES were negative for four fetuses for which a VUS were diagnosed after autopsy. Our study suggests that prenatal phenotype is not a limitation for implementing pES in the prenatal assessment of unsolved MCA to personalize fetal medicine and could influence indication of postmortem examination.
Identifiants
pubmed: 35577939
doi: 10.1038/s41431-022-01117-7
pii: 10.1038/s41431-022-01117-7
pmc: PMC9349205
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
967-975Informations de copyright
© 2022. The Author(s), under exclusive licence to European Society of Human Genetics.
Références
Liu L, Oza S, Hogan D, Perin J, Rudan I, Lawn JE, et al. Global, regional, and national causes of child mortality in 2000–13, with projections to inform post-2015 priorities: an updated systematic analysis. Lancet. 2015;385:430–40.
doi: 10.1016/S0140-6736(14)61698-6
Best KE, Rankin J, Dolk H, Loane M, Haeusler M, Nelen V, et al. Multilevel analyses of related public health indicators: the European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators. Paediatr Perinat Epidemiol. 2020;34:122–9.
doi: 10.1111/ppe.12655
Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ, et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013;41:610–20.
doi: 10.1002/uog.12464
Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, et al. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018;10:74.
doi: 10.1186/s13073-018-0582-x
Harris S, Gilmore K, Hardisty E, Lyerly AD, Vora NL. Ethical and counseling challenges in prenatal exome sequencing. Prenat Diagn. 2018;38:897–903.
doi: 10.1002/pd.5353
Dillon OJ, Lunke S, Stark Z, Yeung A, Thorne N, Melbourne Genomics Health A, et al. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. Eur J Hum Genet. 2018;26:644–51.
doi: 10.1038/s41431-018-0099-1
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019;393:747–57.
doi: 10.1016/S0140-6736(18)31940-8
Pratt M, Garritty C, Thuku M, Esmaeilisaraji L, Hamel C, Hartley T, et al. Application of exome sequencing for prenatal diagnosis: a rapid scoping review. Genet Med. 2020;22:1925–34.
doi: 10.1038/s41436-020-0918-y
Wou K, Weitz T, McCormack C, Wynn J, Spiegel E, Giordano J, et al. Parental perceptions of prenatal whole exome sequencing (PPPWES) study. Prenat Diagn. 2018;38:801–11.
doi: 10.1002/pd.5332
Lefebvre M, Bruel A-L, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, et al. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. J Med Genet. 2021;58:400–13.
doi: 10.1136/jmedgenet-2020-106867
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, 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;17:405–24.
doi: 10.1038/gim.2015.30
Deden C, Neveling K, Zafeiropopoulou D, Gilissen C, Pfundt R, Rinne T, et al. Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging. Prenat Diagn. 2020;40:972–83.
doi: 10.1002/pd.5717
Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019;393:758–67.
doi: 10.1016/S0140-6736(18)32042-7
Godbole K, Bhide V, Nerune S, Kulkarni A, Moghe M, Kanade A. Role of fetal autopsy as a complementary tool to prenatal ultrasound. J Matern Fetal Neonatal Med. 2014;27:1688–92.
doi: 10.3109/14767058.2013.872094
Cannie M, Votino C, Moerman P, Vanheste R, Segers V, Van Berkel K, et al. Acceptance, reliability and confidence of diagnosis of fetal and neonatal virtuopsy compared with conventional autopsy: a prospective study. Ultrasound Obstet Gynecol. 2012;39:659–65.
doi: 10.1002/uog.10079
Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, et al. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am J Med Genet A. 2020;182:1400–6.
doi: 10.1002/ajmg.a.61558
Tolusso LK, Hazelton P, Wong B, Swarr DT. Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes. Genet Med. 2021;23:909–17.
doi: 10.1038/s41436-020-01067-9
Bianchi DW. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nat Med. 2012;18:1041–51.
doi: 10.1038/nm.2829