羊膜穿刺术时发现镶嵌型 21 三体与有利的胎儿结局及围产期三体 21 细胞系进行性减少有关。
Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
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. 2023 Jan;62(1):132-136. doi: 10.1016/j.tjog.2022.01.011.
OBJECTIVE
We present mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
CASE REPORT
A 33-year-old woman underwent elective amniocentesis at 17 weeks of gestation because of anxiety, and the karyotype of cultured amniocytes was 47,XX,+21[4]/46,XX[13]. In 17 colonies of cultured amniocytes, four colonies had 47,XX,+21, while the other 13 colonies had 46,XX. Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed the result of arr (21) × 3 [0.32] consistent with 32% mosaicism for trisomy 21. Repeat amniocentesis performed at 25 weeks of gestation revealed 47,XX,+21[4]/46,XX[24] with four colonies of 47,XX,+21 and 24 colonies of 46, XX on cultured amniocytes, and arr 21q11.2q22.3 × 2.25 by aCGH, 19.2% mosaicism for trisomy 21 (20/104 cells) by interphase fluorescence in situ hybridization (FISH), and no uniparental disomy (UPD) 21 by quantitative fluorescence polymerase chain reaction (QF-PCR) on uncultured amniocytes. The parental karyotypes were normal, and prenatal ultrasound was unremarkable. A phenotypically normal 2815-g female baby was delivered at 38 weeks of gestation. Cytogenetic analysis on the cord blood, umbilical cord and placenta revealed the karyotype of 47,XX,+21[10]/46,XX[30]. 47,XX,+21[5]/46,XX[35] and 47,XX,+21[38]/46,XX[2], respectively. QF-PCR analysis on the DNA extracted from parental bloods, uncultured amniocytes, cord blood, umbilical cord and placenta confirmed a paternal origin of trisomy 21. When follow-up at age two months, the neonate was phenotypically normal, the peripheral blood had a karyotype of 47,XX,+21[6]/46,XX[34], and no trisomy 21 signals by interphase FISH was found on 100 buccal mucosal cells. When follow-up at age 13 months, the neonate was phenotypically normal, and the peripheral blood had a karyotype of 47,XX,+21[3]/46,XX[37].
CONCLUSION
Mosaic trisomy 21 at amniocentesis can be a transient and benign condition, and the abnormal trisomy 21 cell line may decrease and disappear after birth.
目的
我们报告了一例在羊膜穿刺术时发现的镶嵌性 21 三体，并伴有有利的胎儿结局和围产期三体 21 细胞系逐渐减少。
病例报告
一名 33 岁的女性因焦虑在 17 周时进行了选择性羊膜穿刺术，培养的羊水细胞的核型为 47,XX,+21[4]/46,XX[13]。在培养的 17 个羊水细胞菌落中，有 4 个菌落具有 47,XX,+21，而其他 13 个菌落具有 46,XX。对未培养的羊水细胞进行同时的 array comparative genomic hybridization (aCGH) 分析显示，arr (21) × 3 [0.32] 的结果与 21 三体的 32%镶嵌性一致。在 25 周妊娠时重复进行羊膜穿刺术，显示 47,XX,+21[4]/46,XX[24]，培养的羊水细胞中有 4 个菌落为 47,XX,+21，24 个菌落为 46,XX，aCGH 显示 21q11.2q22.3×2.25，21 三体的嵌合体率为 19.2%（20/104 个细胞），间期荧光原位杂交（FISH）显示无单亲二体性（UPD）21，QF-PCR 分析未培养的羊水细胞也显示无 UPD21。父母的核型均正常，产前超声未见异常。一名表型正常的 2815 克女性婴儿于 38 周妊娠时分娩。脐带血、脐带和胎盘的细胞遗传学分析显示核型为 47,XX,+21[10]/46,XX[30]。分别为 47,XX,+21[5]/46,XX[35]和 47,XX,+21[38]/46,XX[2]。对来自父母血液、未培养的羊水细胞、脐带血、脐带和胎盘的 DNA 进行 QF-PCR 分析证实了三体 21 的父源性起源。在两个月大时进行随访时，新生儿表型正常，外周血核型为 47,XX,+21[6]/46,XX[34]，100 个口腔黏膜细胞的间期 FISH 未发现三体 21 信号。在 13 个月大时进行随访时，新生儿表型正常，外周血核型为 47,XX,+21[3]/46,XX[37]。
结论
羊膜穿刺术时发现的镶嵌性 21 三体可能是一种短暂而良性的情况，异常的三体 21 细胞系可能在出生后减少并消失。
Zotero 插件