Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort.
Chromosomal microarray analysis
Congenital heart disease
Whole exome sequencing
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
18 11 2023
18 11 2023
Historique:
received:
28
05
2023
accepted:
23
10
2023
medline:
20
11
2023
pubmed:
19
11
2023
entrez:
19
11
2023
Statut:
epublish
Résumé
This study aimed to investigate the genetic etiologies of fetuses with single atria and/or ventricle (SA or/and SV) using different genetic detection methods in a Chinese prenatal cohort. In this retrospective study, the various genetic results of 44 fetuses with SA and/or SV were analyzed. All 44 cases were tested by chromosomal microarray analysis (CMA) and karyotyping simultaneously, and 8 underwent whole exome sequencing (WES). Data on the pregnancy outcomes and neonatal prognoses were collected from medical records and postnatal follow-up. The whole cohort of 44 fetuses included 14 SA cases (31.8%), 12 SV cases (27.3%), and 18 SA and SV cases (40.9%). A total of 9 pathogenic genetic results were detected by conventional karyotyping, CMA and trio-WES, indicating an overall detection rate of 20.5% (9/44). Six pathogenic chromosomal abnormalities were identified by CMA among the 44 cases, showing a detection rate of 13.6% (6/44). Two microdeletions being missed by karyotyping were diagnosed by CMA, showing an additional diagnostic yield of 4.5% for CMA in present cohort(2/44). Three pathogenic variants in two fetuses were identified by WES, indicating an incremental diagnostic yield of 4.5%(2/44) for WES in fetuses with SA or/and SV. In this study, WES achieved an additional diagnostic yield of 4.5% in fetuses with SA or/and SV. WES is valuable for fetal prognosis assessment and could add diagnostic value for fetuses with SA and/or SV when CMA is negative. It would be a valuable technique for the identification of underlying pathogenic variants in prenatal cohorts.
Identifiants
pubmed: 37980516
doi: 10.1186/s12887-023-04382-7
pii: 10.1186/s12887-023-04382-7
pmc: PMC10656988
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
577Informations de copyright
© 2023. The Author(s).
Références
Ultrasound Obstet Gynecol. 2013 Mar;41(3):348-59
pubmed: 23460196
Genet Med. 2020 Feb;22(2):245-257
pubmed: 31690835
Nat Genet. 2008 Jun;40(6):789-93
pubmed: 18500342
Ultrasound Obstet Gynecol. 2023 Jan;61(1):40-48
pubmed: 36099538
Cureus. 2022 Oct 2;14(10):e29846
pubmed: 36381850
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nat Genet. 2000 Mar;24(3):283-6
pubmed: 10700184
BMJ Open. 2019 Jul 2;9(7):e028139
pubmed: 31270117
Birth Defects Res. 2022 Dec 1;114(20):1404-1416
pubmed: 36345679
J Pediatr (Rio J). 2017 Sep - Oct;93(5):497-507
pubmed: 28336264
Scientifica (Cairo). 2016;2016:5826431
pubmed: 27051557
Cardiol Young. 2021 May;31(5):836-837
pubmed: 33455596
J Med Genet. 2023 Apr;60(4):337-345
pubmed: 35927022
Mol Genet Genomic Med. 2023 Jul;11(7):e2174
pubmed: 37013606
Nat Protoc. 2015 Oct;10(10):1556-66
pubmed: 26379229
Int J Epidemiol. 2019 Apr 1;48(2):455-463
pubmed: 30783674
Mol Syndromol. 2023 Feb;14(1):1-10
pubmed: 36777701
Circulation. 2018 Nov 20;138(21):e653-e711
pubmed: 30571578
Eur J Epidemiol. 2020 Jul;35(7):631-642
pubmed: 32519018
Front Genet. 2022 Jul 13;13:941364
pubmed: 35910219
Am J Obstet Gynecol. 2018 Feb;218(2):244.e1-244.e17
pubmed: 29128521
Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72
pubmed: 32049433
Am Heart J. 2014 Dec;168(6):956-64
pubmed: 25458661
Prenat Diagn. 2022 Jun;42(7):873-880
pubmed: 35584285