细菌人工染色体标记-微球鉴别/分离法和染色体微阵列分析对1例18p四体综合征的产前诊断

Prenatal diagnosis of tetrasomy 18p by bacterial artificial chromosomes-on-beads assay and chromosomal microarray analysis

目的探讨细菌人工染色体标记-微球鉴别/分离法(bacterial artificial chromosomes-on-beads,Bo Bs)技术和染色体微阵列分析(chromosome microarray analysis,CMA)在18p四体综合征产前诊断中的应用价值。方法对1例18p四体综合征进行回顾性分析,应用Bo Bs和CMA技术对18p四体综合征进行识别和确认。结果胎儿羊水细胞染色体核型分析为47,XX,+mar;Bo Bs结果显示胎儿染色体18p11.32和18p11.21区域扩增;CMA验证发现arr[hg19]18p11.32p11.21(136,226-15,143,714)x4,即胎儿18号染色体p11.32p11.21区域存在15 Mb的重复。结论 Bo Bs技术联合CMA能够对染色体微变异快速定位,大大提高了产前诊断的准确性,提供了重要的临床应用价值。

Objective To assess the value of bacterial artificial chromosomes-on-beads （BoBs） and chromosome microarray analysis （CMA） in prenatal diagnosis of tetrasomy 18p syndrome.Methods A retrospective analysis was carried out on a case of tetrasomy 18p syndrome. BoBs assay and CMA were performed to identify and verify tetrasomy 18p syndrome.Results The result of fetal amniotic fluid chromosome karyotype was 47,XX,＋mar. BoBs assay indicated amplification between 18p11.32 and 18p11.21. The fetal CMA result was arr[hg19]18p11.32p11.21（136,226-15,143,714）x4, a 15 Mb duplication at chromosome 18p11.32p11.21 region.Conclusion BoBs combined with CMA can make fine mapping of the aberrant region, which provides an important clinical value, and improves the accuracy of prenatal diagnosis.