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Key clinical point: The novel congenital anomaly testing strategy using simultaneous CNV-seq and whole-exome sequencing (WES) can effectively identify congenital defects and complex anomalies.
Major finding: Overall, 227 trios were identified with a causative alteration (CNV or variant), of which 84.14% were de novo. Both pathogenic CNVs and variants were identified in 10 fetuses. Multisystem anomalies yielded a higher diagnostic yield than single-system anomalies (32.28% vs 22.36%; P = .0183).
Study details: Findings are from a retrospective study of 1,800 pregnant women with singleton fetuses showing structural anomalies at prenatal ultrasound screening, of which 959 trios underwent simultaneous CNV-seq and WES analysis.
Disclosures: This study was funded by CAMS Innovation Fund for Medical Sciences, National Key R&D Program of China, and others. R Chen, X Zhang, C Liu, Y Li, and J Zhang declared being employees of Berry Genomics, and the other authors had no competing interests.
Source: Chen X et al. J Transl Med. 2022 Jan 3. doi: 10.1186/s12967-021-03202-9.
Key clinical point: The novel congenital anomaly testing strategy using simultaneous CNV-seq and whole-exome sequencing (WES) can effectively identify congenital defects and complex anomalies.
Major finding: Overall, 227 trios were identified with a causative alteration (CNV or variant), of which 84.14% were de novo. Both pathogenic CNVs and variants were identified in 10 fetuses. Multisystem anomalies yielded a higher diagnostic yield than single-system anomalies (32.28% vs 22.36%; P = .0183).
Study details: Findings are from a retrospective study of 1,800 pregnant women with singleton fetuses showing structural anomalies at prenatal ultrasound screening, of which 959 trios underwent simultaneous CNV-seq and WES analysis.
Disclosures: This study was funded by CAMS Innovation Fund for Medical Sciences, National Key R&D Program of China, and others. R Chen, X Zhang, C Liu, Y Li, and J Zhang declared being employees of Berry Genomics, and the other authors had no competing interests.
Source: Chen X et al. J Transl Med. 2022 Jan 3. doi: 10.1186/s12967-021-03202-9.
Key clinical point: The novel congenital anomaly testing strategy using simultaneous CNV-seq and whole-exome sequencing (WES) can effectively identify congenital defects and complex anomalies.
Major finding: Overall, 227 trios were identified with a causative alteration (CNV or variant), of which 84.14% were de novo. Both pathogenic CNVs and variants were identified in 10 fetuses. Multisystem anomalies yielded a higher diagnostic yield than single-system anomalies (32.28% vs 22.36%; P = .0183).
Study details: Findings are from a retrospective study of 1,800 pregnant women with singleton fetuses showing structural anomalies at prenatal ultrasound screening, of which 959 trios underwent simultaneous CNV-seq and WES analysis.
Disclosures: This study was funded by CAMS Innovation Fund for Medical Sciences, National Key R&D Program of China, and others. R Chen, X Zhang, C Liu, Y Li, and J Zhang declared being employees of Berry Genomics, and the other authors had no competing interests.
Source: Chen X et al. J Transl Med. 2022 Jan 3. doi: 10.1186/s12967-021-03202-9.