羊膜穿刺术检查提示 16 三体低水平嵌合体，与宫内生长受限相关，结局良好。
Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and 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; 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 Medical Laboratory Science and Biotechnology, Asia University, Taichung, Taiwan.
Department of Genomic Medicine, Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Science, National Tsing Hua University, Hsinchu, Taiwan; Department of Biomedical Science, Dayeh University, Changhua, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2021 Mar;60(2):345-349. doi: 10.1016/j.tjog.2021.01.014.
OBJECTIVE
We present low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR) and a favorable outcome.
CASE REPORT
A 31-year-old woman underwent amniocentesis at 24 weeks of gestation because of IUGR. Amniocentesis revealed a karyotype of 47,XX,+16 [3]/46,XX [22]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed gene dosage increase in chromosome 16 consistent with 28% mosaicism for trisomy 16. Uniparental disomy (UPD) 7 and UPD 11 were excluded. She underwent repeat amniocentesis at 27 weeks of gestation. Repeat amniocentesis revealed a karyotype of 47,XX,+16 [1]/46,XX [24]. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed 25%-35% (log ratio = 0.17-0.25) mosaicism for trisomy 16. Interphase fluorescence in situ hybridization (FISH) analysis detected trisomy 16 signals in 28/100 (28%) uncultured amniocytes. Polymorphic DNA marker analysis excluded UPD 16. Level II ultrasound revealed no fetal abnormalities except symmetric IUGR. The pregnancy was continued to 37 weeks of gestation, and a 2306-g phenotypically normal baby was delivered. The cord blood had a karyotype of 46, XX in 50/50 lymphocytes. The umbilical cord had a karyotype of 47,XX,+16 [14]/46,XX [36]. Interphase FISH analysis on buccal mucosal cells and urinary cells at age three days revealed trisomy 16 signals in 3.8% (4/106) buccal mucosal cells and 6.5% (7/107) urinary cells, compared with 1% in the normal control. Polymorphic DNA marker analysis on placenta confirmed trisomy 16 in the placenta and a maternal origin of the extra chromosome 16.
CONCLUSION
Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes may present in mosaic trisomy 16 at amniocentesis. Low-level mosaicism for trisomy 16 at amniocentesis without maternal UPD 16 can be associated with a favorable outcome despite the presence of IUGR.
目的
我们报道了一例在羊水穿刺中发现的低水平嵌合体 16 三体，该病例与宫内生长受限（IUGR）相关，且结局良好。
病例报告
一名 31 岁女性因 IUGR 于妊娠 24 周行羊水穿刺术。羊水穿刺结果显示核型为 47,XX,+16 [3]/46,XX [22]。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 16 号染色体基因剂量增加，提示 16 三体嵌合体为 28%。排除了单亲二体性（UPD）7 和 UPD 11。她于妊娠 27 周时再次行羊水穿刺术。再次羊水穿刺结果显示核型为 47,XX,+16 [1]/46,XX [24]。同时对未培养的羊水细胞提取的 DNA 进行 aCGH 分析，结果显示 16 三体嵌合体为 25%-35%（log 比值=0.17-0.25）。间期荧光原位杂交（FISH）分析检测到 28/100（28%）未培养羊水细胞中存在 16 三体信号。多态性 DNA 标记分析排除了 UPD 16。二级超声检查除了对称的 IUGR 外，未发现胎儿异常。妊娠继续至 37 周，娩出一名 2306g 表型正常的婴儿。脐带血中有 50/50 淋巴细胞的核型为 46, XX。脐带核型为 47,XX,+16 [14]/46,XX [36]。出生后三天的口腔黏膜细胞和尿液细胞的间期 FISH 分析显示，口腔黏膜细胞中有 3.8%（4/106）和尿液细胞中有 6.5%（7/107）存在 16 三体信号，而正常对照组为 1%。胎盘多态性 DNA 标记分析证实了胎盘和额外的 16 号染色体的母源性三体 16。
结论
在羊水穿刺中，培养的羊水细胞与未培养的羊水细胞之间可能存在染色体核型差异，导致嵌合体 16 三体。低水平的 16 三体嵌合体在羊水穿刺中没有母体 UPD 16 时，尽管存在 IUGR，但仍可能有良好的结局。
Zotero 插件