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目的对1例5条染色体发生复杂易位的胎儿作出产前诊断,评价微阵列比较基因组杂交(array-CGH)技术在产前诊断中的应用价值。方法应用G显带分析羊水细胞染色体及夫妇双方外周血染色体,应用array-CGH技术对羊水细胞进行全基因组高分辨扫描分析,了解是否有微小缺失和重复。结果羊水细胞染色体结果为46,XX,t(5;7;12),t(14;21),夫妻双方外周血染色体核型正常,羊水细胞array-CGH结果显示胎儿染色体未发生微缺失或微重复。结论 array-CGH技术与传统细胞学技术相结合,大大提升产前诊断技术水平。
OBJECTIVE: To evaluate the prenatal diagnosis of a fetus with complex translocation of 5 chromosomes and to evaluate the value of array-CGH in prenatal diagnosis. Methods G - banding was used to analyze the chromosomes of amniotic fluid cells and the peripheral blood chromosomes of both sides of the fetus. Array - CGH technique was used to analyze the whole genome of amniotic fluid cells by high resolution scanning to find out whether there is any slight deletion or duplication. Results The result of amniotic fluid cell chromosome was 46, XX, t (5; 7; 12), t (14; 21). The karyotypes of peripheral blood were normal in both husband and wife. The results of array-CGH showed no microdeletions or slight repeat. Conclusion The combination of array-CGH technique and traditional cytology technique greatly improves the level of prenatal diagnosis.