The result of a postnatal examination on this fetus coincided with our prenatal gene diagnosis. 胎儿出生后检查结果与与产前基因诊断相吻合。
Herein, we briefly describe the latest advances of the research on the genetic diagnosis of monogenetic inherited endocrine and metabolic diseases and its clinical utility. 本文将概述单基因遗传性内分泌代谢病的基因诊断及其临床应用方面的最新研究进展。