染色体微阵列产前诊断8q13.3微缺失一例

Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis

目的应用染色体微阵列分析(chromosome microarray analysis,CMA)技术对1例超声结构异常胎儿进行全基因组拷贝数变异(copy number variations,CNVs)检测,探讨CMA在超声结构异常胎儿产前诊断中的意义。方法应用常规G显带染色体核型分析胎儿及其父母的染色体核型,应用CMA技术分析胎儿及其父母的CNVs。结果G显带核型分析显示胎儿核型与母亲一致,为46,XN,t(8;11)(q21.2;q13)mat,父亲核型正常;父母CMA检测结果均未见异常;胎儿的检测结果为arr[GRCh37]8q13.3(71314082-73322915)×1,提示一条8号染色体的8q13.3区域发生2.00 Mb缺失。结论超声结构异常胎儿染色体核型分析检出的平衡易位,需借助CMA等技术进一步确定是否存在微缺失微重复。

Objective To assess the value of chromosomal microarray analysis(CMA)for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.Methods The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.Results The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13)translocation which was inherited from its mother.CMA has found no copy number variations(CNVs)in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.Conclusion CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.