Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort
Abstract Objective 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. Methods In this retrospective study, the various genetic results of 44 fetuses with SA and/or...
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BMC
2023-11-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-023-04382-7 |
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| author | Min Li Baoying Ye Yiyao Chen Li Gao Yi Wu Weiwei Cheng |
| author_facet | Min Li Baoying Ye Yiyao Chen Li Gao Yi Wu Weiwei Cheng |
| author_sort | Min Li |
| collection | DOAJ |
| description | Abstract Objective 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. Methods 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. Results 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. Conclusion 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. |
| first_indexed | 2024-03-10T17:02:16Z |
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| id | doaj.art-ce9fda0d4c344fbfb258eb6a7f60aeb8 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-03-10T17:02:16Z |
| publishDate | 2023-11-01 |
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| series | BMC Pediatrics |
| spelling | doaj.art-ce9fda0d4c344fbfb258eb6a7f60aeb82023-11-20T10:56:46ZengBMCBMC Pediatrics1471-24312023-11-012311810.1186/s12887-023-04382-7Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohortMin Li0Baoying Ye1Yiyao Chen2Li Gao3Yi Wu4Weiwei Cheng5Prenatal Diagnosis Center, the International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Ultrasonography, the International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Reproductive Genetics, the International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnosis Center, the International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnosis Center, the International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityPrenatal Diagnosis Center, the International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong UniversityAbstract Objective 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. Methods 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. Results 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. Conclusion 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.https://doi.org/10.1186/s12887-023-04382-7Congenital heart diseaseChromosomal microarray analysisWhole exome sequencing |
| spellingShingle | Min Li Baoying Ye Yiyao Chen Li Gao Yi Wu Weiwei Cheng Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort BMC Pediatrics Congenital heart disease Chromosomal microarray analysis Whole exome sequencing |
| title | Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort |
| title_full | Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort |
| title_fullStr | Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort |
| title_full_unstemmed | Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort |
| title_short | Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort |
| title_sort | analysis of genetic testing in fetuses with congenital heart disease of single atria and or single ventricle in a chinese prenatal cohort |
| topic | Congenital heart disease Chromosomal microarray analysis Whole exome sequencing |
| url | https://doi.org/10.1186/s12887-023-04382-7 |
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