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.
Taiwan J Obstet Gynecol. 2023 Nov;62(6):910-914. doi: 10.1016/j.tjog.2023.09.006.
We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy with a favorable fetal outcome.
A 34-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+21 [7]/46,XY [33]. At 23 weeks of gestation, repeat amniocentesis revealed a karyotype of 47,XY,+21 [4]/46,XY [22], and cord blood sampling revealed the karyotype of 47,XY,+21 [5]/46,XY [35]. The parental karyotypes were normal. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on uncultured amniocytes and parental bloods excluded UPD 21, array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed the result of arr 21q11.2q22.3 × 2.3, consistent with 30% mosaicism for trisomy 21. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed 43.8% (35/80 cells) mosaicism for trisomy 21. The woman was advised to continue the pregnancy, and a phenotypically normal 3,340-g male baby was delivered at 39 weeks of gestation. The cord blood had a karyotypes of 46,XY (40/40 cells). QF-PCR on placenta showed mosaic trisomy 21. When follow-up at age three months, the neonate was normal in phenotype and development. FISH analysis on buccal mucosal cells showed 9% (10/101 cells) mosaicism for trisomy 21, compared with 0% (0/100 cells) in the normal control.
Low-level mosaic trisomy 21 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.
我们呈现了一例在羊水穿刺中低水平嵌合三体 21 的病例，该病例的胎儿结局良好。
一位 34 岁的初产妇因高龄接受了 17 周的羊水穿刺。羊水穿刺显示核型为 47,XY,+21 [7]/46,XY [33]。在 23 周时，重复羊水穿刺显示核型为 47,XY,+21 [4]/46,XY [22]，脐带血采样显示核型为 47,XY,+21 [5]/46,XY [35]。父母的核型正常。未培养的羊水细胞和父母血液的定量荧光聚合酶链反应 (QF-PCR) 分析排除了 UPD 21，未培养的羊水细胞的阵列比较基因组杂交 (aCGH) 分析显示结果为 arr 21q11.2q22.3×2.3，与三体 21 的 30%嵌合体一致。未培养的羊水细胞的间期荧光原位杂交 (FISH) 分析显示三体 21 的嵌合体率为 43.8%（35/80 个细胞）。建议该妇女继续妊娠，在 39 周时分娩出一名表型正常的 3340 克男性婴儿。脐带血的核型为 46,XY（40/40 个细胞）。胎盘的 QF-PCR 显示嵌合三体 21。在 3 个月的随访时，新生儿表型和发育正常。口腔黏膜细胞的 FISH 分析显示三体 21 的嵌合体率为 9%（10/101 个细胞），而正常对照为 0%（0/100 个细胞）。
羊水穿刺中低水平嵌合三体 21 可能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、围产期非整倍体细胞系的进行性下降以及良好的胎儿结局有关。
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