Su Sheng-Yuan, Chueh Ho-Yen, Li Ching-Pei, Chang Yao-Lung, Chang Shuenn-Dyh, Chen Chih-Ping
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan.
Cytogenetic Laboratory, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Taiwan J Obstet Gynecol. 2015 Oct;54(5):588-91. doi: 10.1016/j.tjog.2015.08.019.
To evaluate how interphase fluorescence in situ hybridization (FISH) played a role in genetic counseling when encountering prenatally detected fetal mosaicism cases.
We retrospectively reviewed 17 cases of amniotic fluid specimens diagnosed with Level III chromosome mosaicism using in situ coverslip culture method. Among them, seven received additional interphase FISH tests; five were related to autosomal mosaicism and two others were due to sex chromosomes.
In the autosome group, one couple chose to terminate the pregnancy due to a high percentage of trisomy 21 cells (48.1%) shown on interphase FISH; in the gonosome group, one case chose termination as FISH exhibited as high as 80% of XXYY cells.
Performing interphase FISH on uncultured amniocytes for cases detected with mosaicism by traditional amniotic fluid culture provided quick confirmation of the karyotyping results; additionally, obtaining information about the extent of the abnormality involved using interphase FISH could also play a role in counseling patients on the decision making concerning the future of their pregnancies.
评估间期荧光原位杂交（FISH）在遇到产前检测出胎儿嵌合现象时，在遗传咨询中所起的作用。
我们回顾性分析了17例采用原位盖玻片培养法诊断为Ⅲ级染色体嵌合的羊水标本。其中，7例接受了额外的间期FISH检测；5例与常染色体嵌合有关，另外2例与性染色体有关。
在常染色体组中，一对夫妇因间期FISH显示21三体细胞比例较高（48.1%）而选择终止妊娠；在性染色体组中，1例因FISH显示XXYY细胞高达80%而选择终止妊娠。
对于通过传统羊水培养检测出嵌合现象的病例，对未经培养的羊水细胞进行间期FISH可快速确认核型分析结果；此外，利用间期FISH获取有关异常涉及范围的信息，在为患者提供关于其妊娠未来决策的咨询中也可发挥作用。
