在一次羊水穿刺时，对单个细胞集落进行产前诊断，发现7号染色体三体嵌合体，该妊娠结局良好。
Prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis in a pregnancy with a favorable outcome.
作者信息
Chen Chih-Ping, Hung Fang-Yu, Chern Schu-Rern, Chen Shin-Wen, Wu Fang-Tzu, Town Dai-Dyi, Wang Wayseen
机构信息
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, Hsinchu, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2019 Nov;58(6):852-854. doi: 10.1016/j.tjog.2019.09.022.
OBJECTIVE
We present prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis with a favorable outcome.
CASE REPORT
A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a result of 47,XY,+7[1]/46,XY[26]. In 27 colonies of cultured amniocytes, all five cells in one colony had trisomy 7, while the rest 26 colonies had a normal karyotype. The parental karyotypes were normal. Repeat amniocentesis was performed at 19 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) was applied on the uncultured amniocytes, and the result showed trisomy 7 signals in 4% (3/75 cells) of the uncultured amniocytes compared with 1.4% (1/70 cells) in the normal control. Uniparental disomy (UPD) 7 was excluded by polymorphic DNA marker analysis. The cultured amniocytes at repeat amniocentesis had a karyotype of 46,XY. Prenatal ultrasound findings were unremarkable. A healthy 3332-g male baby was delivered at 38 weeks of gestation. The karyotype of cord blood lymphocytes was 46,XY. The boy was phenotypically normal at age 8 months at follow-up. No trisomy 7 signal could be detected in the postnatal FISH analysis of the urinary cells.
CONCLUSION
Mosaicism for trisomy 7 in a single colony at amniocentesis without UPD 7 can be associated with a favorable outcome.
目的
我们报告了在羊膜穿刺术中单个细胞集落中7号染色体三体嵌合体的产前诊断，结果良好。
病例报告
一名40岁女性因高龄产妇在妊娠17周时接受了羊膜穿刺术。羊膜穿刺术结果显示为47,XY,+7[1]/46,XY[26]。在培养的羊水细胞的27个集落中，一个集落的所有五个细胞都有7号染色体三体，而其余26个集落具有正常核型。父母的核型正常。在妊娠19周时进行了重复羊膜穿刺术。对未培养的羊水细胞进行了间期荧光原位杂交（FISH），结果显示未培养的羊水细胞中有4%（3/75个细胞）出现7号染色体三体信号，而正常对照中为1.4%（1/70个细胞）。通过多态性DNA标记分析排除了单亲二体（UPD）7。重复羊膜穿刺术时培养的羊水细胞核型为46,XY。产前超声检查结果无异常。在妊娠38周时分娩了一名健康的3332克男婴。脐带血淋巴细胞的核型为46,XY。随访时该男孩8个月大，表型正常。产后尿液细胞的FISH分析未检测到7号染色体三体信号。
结论
羊膜穿刺术中单个细胞集落中无UPD 7的7号染色体三体嵌合体可能与良好的结局相关。
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