17q12染色体微缺失综合征产前诊断分析

目的:通过分析17q12染色体微缺失综合征的临床资料,探讨该综合征的胎儿期临床表型谱和产前诊断方法,为17q12染色体微缺失综合征患者及携带者的遗传学咨询及产前诊断提供依据。方法选取2018年1月至2019年6月因超声检查发现胎儿肾脏皮质回声增强就诊于河南省人民医院产前诊断中心的患者。经羊水取样,并行染色体微阵列分析(CMA)。结果CMA检测共发现胎儿17 q12微缺失综合征者5例,缺失片段1.18~1.52Mb,缺失区域与肾囊肿和糖尿病综合征致病区域部分重叠(chr1734815072-36215917)。结论对于超声检测出肾脏异常的胎儿,无论其是否合并其它畸形,均应行染色体核型和CMA检查,以及时确诊17q12染色体微缺失综合征胎儿,为胎儿出生后临床表现提供理论支持,为孕妇及家庭提供更为精准的遗传咨询。

Prenatal diagnosis and clinical analysis of 17q12 chromosome microdeletion syndrome

Objective:To explore the fetal clinical phenotype and prenatal diagnosis of 17q12 chromosome microdeletion syndrome,which would provid informations for genetic counseling and prenatal diagnosis for fetal renal disease.Methods:From Jan.2018 to June 2019,the fetus demonstrated renal cortical echo enhancement by ultrasound examination were enrolled in the genetic examination at the prenatal diagnosis center of Henan People's Hospital.Amniotic fluid was sampled and chromosomal microarray analysis(CMA)was performed.Results:5 cases of fetus with 17q12 microdeletion syndrome were detected by CMA,and the missing segment 1.18~1.52Mb(chr17:34815072-36215917)partially overlapped with renal cysts and diabetic syndromes.Conclusion:For fetus with renal abnormalities detected by ultrasound,chromosomal karyotype and CMA tests should be performed regardless of whether they are combined with other deformities.Fetuses with 17q12 chromosome microdeletion syndrome can be diagnosed in time to provide theoretical support for the clinical performance of fetus after birth,as well as more precise genetic counseling for pregnant women and families.