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- W2896562226 abstract "Current genetic analysis of fetal structural malformation found by ultrasound in first trimester are mostly limited to chromosome anomalies. However, genomic variations beyond aneuploidy such as microduplication/microdeletion (CNV), single nucleotide variations (SNV) as well as insertion/deletion (indels) could also cause fetal anomalies in first trimester. This study is to study all kinds of genomic variations in fetuses with US detected abnormalities in first trimester. Routine fetal ultrasound scan and advanced examination were performed according to the ISUOG practice guidelines. Whole-genome sequencing(WGS) was applied to tissues from fetuses after elective termination of pregnancy due to major anomalies. Chromosome anomalies, CNVs, SNVs and indels were analysed and interpreted according to ACMG guidelines. 34 singleton pregnancies with ultrasound anomalies were found before 14 menstrual weeks. The 5 most frequency reported abnormalities are lymphatic cyst (52.9%), hydrops (32.5%), heart abnormalities (26.5%) increased nuchal translucency thickness (14.7%) and vertebrae anomalies (5, 14.7%). 14 cases were aneuploidies including 45XO, 21-Trisomy,18-Trisomy,13-Trisomy and 3 other large chromosome anomalies. Rare CNVs, SNVs and indels were universally discovered in well-established genes with fundamental role in fetal development in the rest of the 17 cases. However, few of these genomic variations reached a pathogenic or likely pathogenic clinical significance under current available evidences. Chromosome anomalies are the most frequent genomic variations in fetuses with major US detected abnormalities in first- trimester. Deeper WGS and new interpretation strategies are desperately needed for further understanding of the genomic bases underlying fetal major anomalies found in first trimester. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
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- W2896562226 date "2018-10-01" @default.
- W2896562226 modified "2023-10-16" @default.
- W2896562226 title "OP01.09: Finding the genomic bases of ultrasound-detected fetal anomalies in first trimester by whole-genome sequencing" @default.
- W2896562226 doi "https://doi.org/10.1002/uog.19399" @default.
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