Genetic Aspects of Small for Gestational Age Infants Using Targeted-Exome Sequencing and Whole-Exome Sequencing: A Single Center Study.
Su-Jung ParkNarae LeeSeong-Hee JeongMun-Hui JeongShin-Yun ByunKyung-Hee ParkPublished in: Journal of clinical medicine (2022)
In SGA infants without known risk factors, the prevalence of genetic causes was 22% (5/21). The diagnostic yield of TES or WES in SGA infants with normal karyotype and CMA was 15.7% (3/19). TES or WES was quite helpful in identifying the etiology in SGA infants without a known cause.