羊膜穿刺术结果显示为45,X/46,XX嵌合体，45,X细胞系呈高比例嵌合，此次妊娠胎儿结局良好，产后45,X细胞系比例下降。
Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line.
作者信息
Chen Chih-Ping, Chen Shin-Wen, Wang Liang-Kai, Wu Fang-Tzu, Pan Yen-Ting, Lee Chen-Chi, Lee Meng-Shan, Pan Chen-Wen, Chen Yun-Yi, Wang Wayseen
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 & 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 Mar;62(2):348-350. doi: 10.1016/j.tjog.2022.12.004.
OBJECTIVE
We present mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line.
CASE REPORT
A 20-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of the non-invasive prenatal testing (NIPT) result of -4.82 Z score in sex chromosome at 12 weeks of gestation suggestive of Turner syndrome in the fetus. Amniocentesis revealed a karyotype of 45,X [18]/46,XX [15], and simultaneous multiplex ligation-dependent probe amplification (MLPA) on the DNA extracted from uncultured amniocytes showed mosaic Turner syndrome. Prenatal ultrasound and parental karyotypes were normal. She was referred for genetic counseling at 24 weeks of gestation, and continuing pregnancy was encouraged. At 39 weeks of gestation, a 2550-g phenotypically normal female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 45,X [24]/46,XX [16], 45,X [23]/46,XX [17] and 45,X [28]/46,X,del(X) (q23)[12], respectively. When follow-up at age two months, the neonate was phenotypically normal in development. The peripheral blood had a karyotypes of 45,X [16]/46,XX [24]. Interphase fluorescence in situ hybridization (FISH) analysis on 103 buccal mucosal cells showed normal disomy X signals in all cells.
CONCLUSION
High-level mosaicism for 45,X in 45,X/46, XX at amniocentesis can be associated with a favorable fetal outcome, cytogenetic discrepancy in various tissues, and postnatal decrease of the 45,X cell line.
目的
我们报告了一例羊膜腔穿刺结果为45,X/46,XX嵌合体，其中45,X为高比例嵌合，该妊娠胎儿结局良好，产后45,X细胞系比例下降。
病例报告
一名20岁初产妇，因孕12周无创产前检测（NIPT）性染色体Z值为-4.82，提示胎儿可能患有特纳综合征，于孕17周接受羊膜腔穿刺。羊膜腔穿刺结果显示核型为45,X[18]/46,XX[15]，同时对未培养羊膜细胞提取的DNA进行多重连接依赖探针扩增（MLPA）检测，结果显示为嵌合型特纳综合征。产前超声及父母核型均正常。孕24周时她接受了遗传咨询，医生鼓励她继续妊娠。孕39周时，分娩出一名体重2550克、表型正常的女婴。脐带血、脐带和胎盘的核型分别为45,X[24]/46,XX[16]、45,X[23]/46,XX[17]和45,X[28]/46,X,del(X)(q23)[12]。婴儿出生两个月随访时，发育表型正常。外周血核型为45,X[16]/46,XX[24]。对103个颊黏膜细胞进行间期荧光原位杂交（FISH）分析，所有细胞均显示正常的X染色体双体信号。
结论
羊膜腔穿刺结果为45,X/46,XX且45,X为高比例嵌合时，可能与良好的胎儿结局、不同组织的细胞遗传学差异以及产后45,X细胞系比例下降有关。
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