产前诊断平衡易位家系胎儿多发畸形1例

A case study of prenatal diagnosis of balanced translocation in a family with multiple fetal malformations

目的结合常规羊水穿刺核型分析、荧光原位杂交(FISH)及染色体微阵列分析(CMA)对一平衡易位家系多发畸形胎儿进行产前诊断。方法对孕妇羊水穿刺进行核型分析后,再补充进行FISH及CMA对胎儿的全基因进行检测。结果孕妇及其父亲均系4号染色体与15号染色体平衡易位,胎儿染色体核型为46,XN,t(1;15)(q21;q26.3),FISH未见异常,CMA提示胎儿4q28.3?q35.2染色体片段约59 Mb的重复,以及15q26.3染色体约2.4 Mb的缺失。结论将核型分析与CMA结合,可以减少误诊和漏诊,有较好的临床应用价值。

Objective To diagnose the balanced translocation of a multiple malformed fetuses using routine amniocentesis karyotype analysis,fluorescence in situ hybridization(FISH) and chromosome microarray analysis(CMA). Methods Karyotype analysis of amniotic fluid was performed on the pregnant woman with amniocentesis. FISH and CMA were used to test the whole genome of the fetus. Results Pregnant woman and her father had balanced translocation of chromosome 4 and chromosome 15. The karyotype of the fetus was 46,XN,t(1;15)(q21;q26.3),and there was no abnormality shown in the FISH result. The CMA result suggested that 59 Mb of the 4 q28.3?q35.2 chromosome of the fetus was repeated,and2.4 Mb of 15 q26.3 chromosome was missing. Conclusion Combining karyotype analysis with CMA can reduce misdiagnosis and missed diagnosis,and has good clinical application value.