在一项结局良好的妊娠羊膜穿刺术中，发现单个细胞系存在 12 三体嵌合体的产前诊断。
Prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome.
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, Taitung MacKay Memorial Hospital, Tatung, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2020 Jul;59(4):604-606. doi: 10.1016/j.tjog.2020.05.023.
OBJECTIVE
We present prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis with a favorable outcome.
CASE REPORT
A 36-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+12[1]/46,XY[14]. In 15 colonies of cultured amniocytes, all three cells in one colony had the karyotype of 47,XY,+12, while the rest 14 colonies had the karyotype of 46,XY. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Polymorphic DNA marker analysis using the DNAs extracted from cultured amniocytes and parental bloods excluded uniparental disomy (UPD) 12. At 37 weeks of gestation, a healthy 2,828-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 46,XY in 40/40 lymphocytes. Postnatal interphase fluorescence in situ hybridization (FISH) analysis on buccal cells and urinary cells revealed normal signals in 72/72 buccal cells, and trisomy 12 signals in 1/47 (2.1%) urinary cells compared with 0% (0/75 cells) of trisomy 12 signals in the normal control.
CONCLUSION
Mosaicism for trisomy 12 in a single colony at amniocentesis without UPD 12 and fetal ultrasound abnormalities can be associated with a favorable outcome.
目的
我们报告了一例在羊膜穿刺术时发现单个细胞系存在三体 12 嵌合体的产前诊断病例，其结局良好。
病例报告
一位 36 岁的女性因高龄接受了 18 周的羊膜穿刺术。羊膜穿刺术显示核型为 47,XY,+12[1]/46,XY[14]。在培养的羊水细胞的 15 个细胞系中，一个细胞系的所有三个细胞的核型为 47,XY,+12，而其余 14 个细胞系的核型为 46,XY。父母的核型正常。产前超声检查未见异常。使用从培养的羊水细胞和父母血液中提取的 DNA 进行多态性 DNA 标记分析排除了 12 号染色体单亲二体（UPD）。在 37 周妊娠时，分娩了一名 2828 克的健康男婴，无表型异常。脐带血中有 40/40 个淋巴细胞的核型为 46,XY。产后间期荧光原位杂交（FISH）分析颊细胞和尿细胞，72/72 个颊细胞的信号正常，与正常对照相比，1/47（2.1%）个尿细胞的 12 号染色体三体信号为 1 个，而正常对照的 12 号染色体三体信号为 0%（0/75 个细胞）。
结论
在羊膜穿刺术时发现单个细胞系存在三体 12 嵌合体，且无 UPD 12 和胎儿超声异常时，可与良好的结局相关。
Zotero 插件