羊膜穿刺术时发现低水平嵌合性 14 三体 在培养的羊水细胞和未培养的羊水细胞之间存在细胞遗传学差异、14 三体非整倍体的无创产前检测阳性、进行性的 14 三体细胞系减少和良好的胎儿结局。
Low-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, positive non-invasive prenatal testing for trisomy 14, perinatal progressive decrease of the trisomy 14 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 Sep;63(5):755-758. doi: 10.1016/j.tjog.2024.07.006.
OBJECTIVE
We present low-level mosaic trisomy 14 at amniocentesis.
CASE REPORT
A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XX,+14 [4]/46,XX [27], consistent with 12.9% mosaicism for trisomy 14. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (1-22, X) × 2 with no genomic imbalance. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling at 21 weeks of gestation and was offered expanded non-invasive prenatal testing (NIPT) which was positive for trisomy 14. At 24 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 47,XX,+14 [2]/46,XX [26], consistent with 7% mosaicism for trisomy 14. The parental karyotypes were normal. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed no genomic imbalance. Polymorphic marker analysis excluded uniparental disomy (UPD) 14. Interphase fluorescence in situ hybridization (FISH) analysis on 104 uncultured amniocytes detected no trisomy 14 cell. At 35 weeks of gestation, a 2315-g phenotypically normal baby was delivered. The umbilical cord and placenta had the karyotype of 46, XX (40/40 cells). aCGH analysis on the DNA extracted from peripheral blood and buccal mucosal cells at the age of three months revealed no genomic imbalance. The neonate was normal in phenotype and development during postnatal follow-ups.
CONCLUSIONS
Low-level mosaic trisomy 14 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome.
目的
我们呈现羊水穿刺低水平嵌合三体 14。
病例报告
一名 37 岁，孕 2 产 1，因高龄行羊水穿刺术，该孕妇通过体外受精和胚胎移植（IVF-ET）受孕。羊水穿刺结果显示核型为 47,XX,+14 [4]/46,XX [27]，提示 12.9%的三体 14 嵌合体。同时对未培养羊水细胞提取的 DNA 进行(array comparative genomic hybridization，aCGH)分析，结果为 arr(1-22, X)×2，无基因组不平衡。产前超声未见异常。她在妊娠 21 周时被转诊至遗传咨询门诊，接受了扩展的非侵入性产前检测（NIPT），结果显示三体 14 阳性。妊娠 24 周时，她再次行羊水穿刺，结果显示核型为 47,XX,+14 [2]/46,XX [26]，提示 7%的三体 14 嵌合体。父母的核型均正常。同时对未培养羊水细胞提取的 DNA 进行 aCGH 分析，结果无基因组不平衡。多态性标记分析排除了 14 号染色体单亲二体（uniparental disomy，UPD）。104 个未培养羊水细胞的间期荧光原位杂交（fluorescence in situ hybridization，FISH）分析未检测到三体 14 细胞。妊娠 35 周时，分娩出 2315g 的表型正常婴儿。脐带和胎盘核型为 46, XX（40/40 个细胞）。3 个月时，外周血和口腔黏膜细胞提取的 DNA 进行 aCGH 分析，结果无基因组不平衡。新生儿在出生后随访期间表型和发育正常。
结论
羊水穿刺低水平嵌合三体 14 可伴有培养羊水细胞和未培养羊水细胞的细胞遗传学差异、围产期三体 14 细胞系逐渐减少以及良好的胎儿结局。
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