Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

Keyphrases

• Ultrasound 100%
• Diagnostic Performance 100%
• Fetal Abnormalities 100%
• Exome Sequencing 100%
• Genetic Diagnosis 100%
• Copy number Variation 66%
• X-linked 33%
• Pathogenicity 33%
• Genetic Abnormalities 33%
• Duplication 33%
• Underlying Etiologies 33%
• Neonate 33%
• Fetus 33%
• Genetic Etiology 33%
• Single nucleotide Variant 33%
• Microarray Profiling 33%
• Next-generation Sequencing 33%
• Structural Abnormalities 33%
• Array-based 33%
• Missense Variants 33%
• Pathogenic Variants 33%
• Variant Detection 33%
• Phenotypic Data 33%
• Prenatal Ultrasound 33%
• Recurrence Risk 33%
• Fetal Structural Anomalies 33%
• Prenatal Genetics 33%
• COL2A1 33%
• Small Indel 33%
• Chromosomal Rearrangements 33%
• OFD1 33%
• Inheritance Model 33%
• Fibroblast Growth Factor Receptor 3 (FGFR3) 33%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Exome Sequencing 100%
• Candidate Gene 50%
• Single-Nucleotide Polymorphism 50%
• Next Generation Sequencing 50%
• Missense 50%
• Indel 50%
• Karyotyping 50%
• Prenatal Genetics 50%
• OFD1 50%
• Chromosomal Rearrangement 50%
• Fibroblast Growth Factor Receptor 3 50%