Ontology highlight
ABSTRACT:
SUBMITTER: Leung GKC
PROVIDER: S-EPMC6202811 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Leung Gordon K C GKC Mak Christopher C Y CCY Fung Jasmine L F JLF Wong Wilfred H S WHS Tsang Mandy H Y MHY Yu Mullin H C MHC Pei Steven L C SLC Yeung K S KS Mok Gary T K GTK Lee C P CP Hui Amelia P W APW Tang Mary H Y MHY Chan Kelvin Y K KYK Liu Anthony P Y APY Yang Wanling W Sham P C PC Kan Anita S Y ASY Chung Brian H Y BHY
BMC medical genomics 20181025 1
<h4>Background</h4>Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in fetuses with structural congenital anomalies (SCAs) detected on prenatal ultrasound.<h4>Method</h4>Thirty-three families with fetal SCAs on prenatal ultrasonography and normal chromosomal microarray results were recruited. Genomic DNA was extracted f ...[more]