染色体核型联合芯片技术在反复缺陷儿妊娠史夫妇再生育咨询中的应用体会

发布时间：2018-03-08 17:12

本文选题：核型分析　切入点：微阵列比较基因组杂交　出处：《中国产前诊断杂志(电子版)》2016年04期 　论文类型：期刊论文

【摘要】：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。
[Abstract]:Objective to study the prenatal diagnosis and genetic counseling of a couple with repeated defect pregnancy history by using chromosome karyotype analysis and microarray analysis. Methods the G-banded chromosome karyotype analysis was carried out between the two couples and the fetus of the pregnancy in order to effectively prevent birth defects. Microarray comparative genomic hybridization technique was used to exclude microdeletions and microduplication of pathogenic chromosomes. Results the husband karyotype was 46 XYYT5, and the pregnant women had normal karyotype and fetal chromosomal karyotypes were 46XNs. Combined with the second born cat named Cri-du-Chat syndrome CDCSs, the history of labor was induced. We considered that no copy number variation was found in the detection of paternal CDCSA array-CGH, and that the pregnant women continued to be pregnant and gave birth to healthy male infants without abnormal follow-up. Conclusion the combination of cytogenetic and molecular genetic methods is reasonable. It can find the etiology, reduce the risk of recurrence, improve the outcome of pregnancy and achieve the goal of good birth and good birth for couples with history of pregnancy with repeated defects.
【作者单位】：南京医科大学附属无锡妇幼保健院产前诊断中心;
【分类号】：R714.5

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