在一项妊娠羊水中细胞遗传学培养的羊水细胞与未培养的羊水细胞之间存在差异的病例中，行羊膜穿刺术发现低水平镶嵌性 7 号染色体三体，围产期三体 7 细胞系逐渐减少，胎儿结局良好。
Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome.
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 and Health Science, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2024 Jul;63(4):549-551. doi: 10.1016/j.tjog.2024.05.009.
OBJECTIVE
We present low-level mosaic trisomy at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome.
CASE REPORT
A 40-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY in cultured amniocytes. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (7) × 2-3, (X,Y) × 1, consistent with 24% mosaicism for trisomy 7. Polymorphic DNA marker analysis on the DNA extracted from the uncultured amniocytes and parental bloods excluded uniparental disomy (UPD) 7. Prenatal ultrasound findings were normal. She was referred for genetic counseling at 19 weeks of gestation. No repeat amniocentesis was suggested, and continuing the pregnancy was advised. At 22 weeks of gestation, the result of soluble fms-like tyrosine kinase-1 (sFlt-1)/placental growth factor (PlGF) = 6.1 (normal < 38). She did not have preeclampsia. At 39 weeks of gestation, a 3346-g male baby was delivered without any phenotypic abnormality. aCGH analysis on the DNA extracted from cord blood and placenta revealed the result of arr (1-22) × 2, (X,Y) × 1 with no genomic imbalance in all tissues. When follow-up at age three months, the baby was normal in development and phenotype. The peripheral blood had a karyotype of 46,XY, and interphase fluorescence in situ hybridization (FISH) analysis using the bacterial artificial chromosome (BAC) probes of chromosome 7 showed disomy 7 cells in all 102/102 cells.
CONCLUSION
Low-level mosaic trisomy 7 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome.
目的
我们介绍了一例羊水穿刺中低水平嵌合体三体 7，该病例与培养的羊水细胞和未培养的羊水细胞之间的细胞遗传学差异、围产儿期三体 7 细胞系进行性减少以及良好的胎儿结局有关。
病例报告
一位 40 岁初产妇因高龄接受了 16 周的羊水穿刺。羊水穿刺显示培养的羊水细胞核型为 46,XY。同时对未培养的羊水细胞提取的 DNA 进行 array 比较基因组杂交（aCGH）分析，结果显示 arr（7）×2-3、（X，Y）×1，提示 7 号三体 24%嵌合体。对未培养的羊水细胞和父母血液提取的 DNA 进行多态性 DNA 标记分析排除了 7 号单亲二体（UPD）。产前超声检查正常。她在 19 周时被转介进行遗传咨询。不建议重复羊水穿刺，建议继续妊娠。在 22 周时，可溶性 fms 样酪氨酸激酶-1（sFlt-1）/胎盘生长因子（PlGF）=6.1（正常值<38）。她没有子痫前期。在 39 周时，分娩了一名 3346 克的男性婴儿，无任何表型异常。对脐带血和胎盘提取的 DNA 进行 aCGH 分析，结果显示所有组织均无基因组不平衡，arr（1-22）×2，（X，Y）×1。在 3 个月大时进行随访时，婴儿在发育和表型方面均正常。外周血核型为 46,XY，用 7 号染色体细菌人工染色体（BAC）探针进行间期荧光原位杂交（FISH）分析显示，102/102 个细胞均为二倍体 7 号染色体。
结论
羊水穿刺中低水平嵌合体三体 7 可与培养的羊水细胞和未培养的羊水细胞之间的细胞遗传学差异、围产儿期三体 7 细胞系进行性减少以及良好的胎儿结局有关。
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