目的 联合应用染色体核型分析及芯片检测，对一例反复缺陷儿妊娠史有再生育需求夫妇进行产前诊断与遗传咨询，为有效预防出生缺陷提供诊疗思路。方法 夫妇双方及本次妊娠胎儿进行G显带染色体核型分析，采用微阵列比较基因组杂交（array-based comparative genomic hybridization, array-CGH）技术排除致病性染色体微缺失微重复。结果 丈夫核型为46,XY,t(5;6)(p13;p25)，孕妇核型正常，胎儿染色体核型46,XN，结合第二胎猫叫综合征(Cri-du-Chat syndrome，CDCS)引产史，考虑为父源性CDCS；array-CGH检测未发现致病性拷贝数变异(Copy number variation, CNV)；孕妇继续妊娠并顺产健康男婴，随访至今无异常。结论 细胞与分子遗传学方法相结合合理应用，可为反复缺陷儿妊娠史夫妇查找病因，减少再发风险，改善妊娠结局，达到优生优育的目的。
Objective To provide prenatal diagnosis and genetic counseling for a pregnant couple with defective pregnancies by the combination of karyotype and chip testing and then to provide clinical thinking for effectively preventing birth defects. Method G-banding was performed to analyze the karyotypes of the three family members, and then array-based comparative genomic hybridization (array-CGH) was applied to investigate micro deletions and duplications. Results G-banding analysis revealed that the husband was a balanced translocation carrier of 46,XY,t（5;6）（p13;p25）and the pregnant woman was normal. Accordingly, the second fetus induced for Cri-du-Chat syndrome (CDCS) was considered to result from balanced paternal translocation. The current fetus was with normal karyotype of 46,XN and pathogenic copy number variations（CNV）weren’t found by array-CGH. Therefore, the pregnant woman continued pregnancy and gave birth to a healthy baby boy by vaginal delivery. The boy had no abnormalities during follow-up. Conclusions By rational application of cellular and molecular genetic methods, not only the causes could be investigated for the couples with defective pregnancies but also recurrent risk would be reduced, and then pregnancy outcomes would be improved eventually.
