一例新发16q部分三体综合征胎儿的诊断

Diagnosis of a fetus with a de novo 16q partial trisomy syndrome

目的对1例B超检查及无创产前检测提示异常的胎儿进行产前诊断。方法应用羊水染色体核型分析和单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)技术对胎儿及其父母进行检测。结果胎儿父母核型均未见异常,胎儿携带46,N,der(X)t(X;16)(q28;q22)非平衡易位。SNP-array检测证实胎儿的衍生染色体片段源自16号长臂,确诊胎儿为新发的16q22.1q24.3部分三体综合征。结论综合传统的染色体核型分析与SNP-array检测,能够准确检出亚显微水平的染色体畸变,对异常胎儿的病因做出准确的判断。

Objective To carry out prenatal diagnosis on a fetus with abnormal findings by ultrasonography and non-invasive prenatal testing.Methods The fetus and both parents were subjected to chromosomal karyotyping and single nucleotide polymorphism array(SNP-array)analysis.Results The karyotypes of both parents were normal.The fetus carried a 46,N,der(X;16)(q28;q22)unbalanced translocation.SNP-array analysis confirmed that the derived chromosomal fragment of the fetus has originated from 16q.The fetus was diagnosed with 16q partial trisomy syndrome.Conclusion Combined chromosomal karyotyping analysis and SNP-array can detect chromosomal aberrations at submicroscopic level and enable accurate diagnosis of the fetus.