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目的探讨22q11微缺失检测在产前诊断领域中的应用价值。方法应用染色体荧光原位杂交(FISH)技术,对55例疑妊娠22q11微缺失胎儿的高危孕妇进行产前22q11微缺失的检测。结果 55例产前诊断病例中,22q11微缺失2例,均为胎儿心脏室间隔缺损。结论对于先天性心脏病的胎儿应行产前诊断检测22q11微缺失。
Objective To explore the value of 22q11 microdeletion detection in prenatal diagnosis. Methods The prenatal diagnosis of 22q11 microdeletions in 55 high-risk pregnant women with suspected gestational 22q11 microdeletions was detected by chromosomal fluorescence in situ hybridization (FISH). Results Among the 55 prenatal diagnosis cases, 2 cases of 22q11 microdeletion were missing, all of which were ventricular septal defect of fetal heart. Conclusion Prenatal diagnosis of 22q11 microdeletions in fetuses with congenital heart disease should be performed.