羊水穿刺时发现低水平嵌合型13三体，该妊娠结局良好，且不同组织存在细胞遗传学差异。
Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
作者信息
Chen Chih-Ping, Weng Shun-Long, Chen Shin-Wen, Chern Schu-Rern, Wu Peih-Shan, Wu Fang-Tzu, Pan Yen-Ting, Lee Chen-Chi, Chen Wen-Lin, 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; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical & Health Science, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, Hsinchu, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2023 Mar;62(2):354-357. doi: 10.1016/j.tjog.2022.12.006.
OBJECTIVE
We present low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
CASE REPORT
A 38-year-old, gravida 3, para 0, woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer. Amniocentesis revealed a karyotype of 47,XX,+13[2]/ 46,XX[20] in co-twin A and a karyotype of 46,XY in co-twin B. In co-twin A, among 22 colonies of cultured amniocytes, two colonies had a karyotype of 47,XX,+13, whereas the rest 20 colonies had the karyotype of 46,XX. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed arr (1-22,X) × 2, Y × 0 and detected no genomic imbalance. Prenatal ultrasound and parental karyotypes were normal. Quantitative fluorescence polymerase chain reaction (QF-PCR) analysis on the DNA extracted from the parental bloods and cultured amniocytes excluded uniparental disomy (UPD) 13. The woman was encouraged to continue the pregnancy. At 37 weeks of gestation, a normal 2410-g female co-twin A and a normal 2360-g male co-twin B were delivered without any phenotypic abnormality. The karyotypes of cord blood, umbilical cord and placenta of co-twin A were 46,XX (40/40 cells), 47,XX,+13 [1]/46,XX[39] and 47,XX,+13[36]/46,XX [4], respectively. QF-PCR analysis on cord blood of co-twin A excluded UPD 13. When follow-up at age 1½ years, the neonate of co-twin A was normal in physical and psychomotor development.
CONCLUSION
Low-level true mosaic trisomy 13 at amniocentesis can be associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
目的
我们报告了一例羊膜腔穿刺时发现的低水平13号染色体嵌合三体病例，该病例妊娠结局良好，且不同组织存在细胞遗传学差异。
病例报告
一名38岁、孕3产0的女性因母亲年龄偏大，于妊娠19周时接受了羊膜腔穿刺。此次妊娠通过体外受精和胚胎移植受孕。羊膜腔穿刺显示双胎A的核型为47,XX,+13[2]/46,XX[20]，双胎B的核型为46,XY。在双胎A中，22个培养的羊水细胞集落中，有两个集落的核型为47,XX,+13，其余20个集落的核型为46,XX。对从培养的羊水细胞中提取的DNA进行的阵列比较基因组杂交（aCGH）分析显示arr(1 - 22,X)×2, Y×0，未检测到基因组失衡。产前超声检查和父母核型均正常。对从父母血液和培养的羊水细胞中提取的DNA进行的定量荧光聚合酶链反应（QF-PCR）分析排除了13号染色体单亲二倍体（UPD）。鼓励该女性继续妊娠。妊娠37周时，正常的2410克女婴双胎A和正常的2360克男婴双胎B顺利分娩，无任何表型异常。双胎A的脐血、脐带和胎盘的核型分别为46,XX（40/40个细胞）、47,XX,+13[1]/46,XX[39]和47,XX,+13[36]/46,XX[4]。对双胎A的脐血进行的QF-PCR分析排除了13号染色体UPD。在1岁半随访时，双胎A的新生儿身体和精神运动发育正常。
结论
羊膜腔穿刺时发现的低水平真正嵌合13号染色体三体可能与良好的胎儿结局以及不同组织的细胞遗传学差异有关。
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