Research status of extracellular fetal DNA testing for diagnosing virilization malformations in female fetus caused by 21-hydroxylase deficiency
Xiao Zhaoming, Cen Jinpeng, Wang Tao, et al
(1. Department ofUrology, the Third Affiliated Hospital of Southern Medical University, Guangdong, Guangzhou 510000,China; 2. Department of Urology, Nanfang Hospital of Southern Medical University, Guangdong, Guangzhou510000, China; 3. Department of Urology, the Fifth Affiliated Hospital of Southern Medical University,Guangdong, Guangzhou 510000, China)
Abstract: 【Abstract】Supplement of dexamethasone before 9th week of pregnancy is a critical strategy in preventingthe virilization malformations in female due to 21-hydroxylase deficiency. However, current prenataldiagnostic methods are not competent in recognizing fetus possessing risky genotypes of 21-hydroxylasedeficiency at first trimister of pregnancy, resulting in dexamethasone over-treatments as a potential threatento the health in both maternal and infant. The fetus genomic DNA would be released into maternal plasmaduring the apoptosis of fetal chorionic villi cells, as a component named extracellular fetal DNA in maternalplasma which can be detected by targeted next generation sequencing to deduce the genotypes inherited by fetus.Currently, diagnostic strategy, based on the targeted sequencing of extracellular DNA from maternal plasma,can establish the timely diagnosis of risky genotypes of 21-hydroxylase deficiency at 7th pregnancy week, thusachieving the proper supplement of dexamethasone with reduced risk of miscarriage raised by amniocentesis
肖兆铭 岑金朋 王涛 甄楚倩 李清 赵善超. 细胞外胎儿DNA 检测诊断21- 羟化酶缺陷致女胎男性化畸形的研究现状[J]. 发育医学电子杂志, 2025, 13(3): 225-233.
Xiao Zhaoming, Cen Jinpeng, Wang Tao, et al. Research status of extracellular fetal DNA testing for diagnosing virilization malformations in female fetus caused by 21-hydroxylase deficiency. Journal of Developmental Medicine(Electronic Version), 2025, 13(3): 225-233.
2025, Vol. 13 
