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• W4387160830 abstract "Abstract Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy (UPD) is a rare condition that leads to imprinting effects, low-level mosaic aneuploidies and homozygosity for pathogenic variants. In the present study, UPD events were detected in 5 women with FGR by trio exome sequencing (trio-WES) of a cohort of 150 FGR cases. Furthermore, noninvasive prenatal testing results of the 5 patients revealed a high risk of rare autosomal trisomy. Trio-WES showed no copy-number variations (CNVs) or nondisease-causing mutations associated with FGR. Among the 5 women with FGR, two showed gene imprinting, and two exhibited confined placental mosaicism (CPM) by copy number variant sequencing (CNV-seq). The present study showed that in FGR patients with UPD, the detection of imprinted genes and CPM could enhance the genetic diagnosis of FGR." @default.
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• W4387160830 date "2023-09-29" @default.
• W4387160830 modified "2023-09-30" @default.
• W4387160830 title "Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting" @default.
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• W4387160830 doi "https://doi.org/10.21203/rs.3.rs-3347215/v1" @default.
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