Table S1: Fetal phenotype and genotype

Name: Table S1: Fetal phenotype and genotype
Creator: Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp; Center for Medical Genetics, University and University Hospital of Antwerp; Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi
Published: 2022-12-15T00:00:00+08:00

Zenodo2022-12-15 更新2026-04-07 收录

产前基因诊断

胎儿表型-基因型关联

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Legend to supplementary Table 1 This table contains the 28 fetal cases on whom WES was performed. For each case, the fetal phenotype and the organ system involved are described, as well as the sample type from which the DNA was extracted, the applied gene panel and the result. For the positive cases, the gestational age at ultrasound, the affected gene and variant, the inheritance mode, the associated syndrome, the fetal phenotype as described in the literature and the outcome of the pregnancy are listed as well. AC: amniocytes; AD: autosomal dominant; AR: autosomal recessive; CNS: central nervous system; CV: chorionic villi; hom: homozygous; IF: incidental finding; IUGR: intrauterine growth restriction; LB: live birth; norm: normal; NT: nuchal translucency; pat: paternal; path: pathogenic; TOP: termination of pregnancy; US: ultrasound; VSD: ventricular septal defect; WES: whole exome sequencing; WESSD: WES with skeletal dysplasia panel

提供机构：

Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp; Center for Medical Genetics, University and University Hospital of Antwerp; Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi

创建时间：

2022-12-15