综合采用多种遗传学技术纠正一例珍贵胎儿的产前诊断错误

Correct Errors in the Prenatal Diagnosis Using Combined Genetic Techniques:A Case Report

目的:对外院染色体G显带检测结果疑为22号同源染色体易位的妊娠妇女及其22号染色体长臂部分三体胎儿进一步确诊。方法:对该名妇女及其胎儿行高分辨G显带、N显带、荧光原位杂交(FISH)检测;对其父母行高分辨G显带、N显带检测。结果:妊娠妇女的核型为46,XX,t(11;22)(q25;q13),22ps+。22ps+遗传自其母亲,属正常变异;胎儿遗传了其母亲的22ps+染色体和正常的11号染色体,核型无异常。结论:综合采用多种遗传学技术,对家系相关成员进行检测,可增强细胞遗传学检测结果的可靠性,避免误诊。

Objective：To verify the maternal balanced reciprocal translocation t （22;22） in a pregnant woman and the partial trisomy 22q in her fetus, which detected by G banding in a local hospital, using the combined genetic techniques. Methods：G-banding, N-banding and FISH were performed in the pregnant woman and her fetus,and high-resolution G-banding and N-banding in parents of the pregnant woman. Results：Inherited from her mother,the pregnant woman had the karyotype of 46,XX,t （11;22） （q25;q13）, 22ps＋. 22ps＋ which was obviously a balanced reciprocal translocation with a pair of 22ps＋ polymorphisms. A 22ps＋ and a normal chromosome 11 in fetus were found to transmit from the pregnant woman,leading to a balanced karyotype in the fetus. Conclusions：The comprehensive analysis by using combined genetic techniques should be performed in fetus and family members to prevent errors in prenatal diagnosis.