1例6 q三体嵌合胎儿的产前诊断

doi:10.6040/j.issn.1671-7554.0.2021.1081

摘要/Abstract

摘要： 目的探讨产前染色体嵌合的适宜诊断策略。方法回顾分析1例因超声显示胎儿心脏室间隔缺损伴单脐动脉而就诊的孕妇病例。该孕妇因中孕期血清学筛查提示21三体高危,孕17⁺²周于外院行无创DNA产前检测。孕25⁺⁵周因超声异常于山东省妇幼保健院医学遗传与产前诊断中心接受羊膜腔穿刺及胎儿染色体核型分析与染色体微阵列检测(CMA)、未培养羊水细胞6pter/6qter定制探针荧光原位杂交(FISH)检测以及引产胎儿胎盘和皮肤组织的CMA检测。羊水细胞核型计数82个细胞,核型分析5个。结果外院无创检测提示,胎儿21三体综合征、18三体综合征及13三体综合征均为低风险。本院报告羊水细胞核型为47,XN,+del(6)(p21.1)［24］/46,XN［58］。两次直接羊水细胞CMA均未发现异常,但传代培养的羊水细胞CMA检测提示6q三体嵌合。直接羊水细胞FISH检测计数100个细胞,89个为正常二倍体,6个为6q三体,FISH结果判读无异常。引产胎儿胎盘和皮肤组织的CMA检测均未发现异常。结论结合胎儿B超、核型分析和不同原理的分子遗传检测结果,判定胎儿可能为6q三体极低比例嵌合胎儿,减少了假阴性风险。

关键词: 染色体嵌合, 产前诊断, 核型分析, 染色体微阵列, 荧光原位杂交

Abstract: Objective To explore the prenatal diagnosis of chromosome moasic. Methods The clinical data of a pregnant woman whose ultrasound scans suggested fetal ventricular septal defect and single umbilical artery were retrospectively analyzed. As peripheral venous blood for serological screening indicated high risk of trisomy 21, the woman received non-invasive prenatal testing(NIPT)in another hospital at 17⁺² weeks of gestation. For further prenatal diagnosis, she received amniocentesis, karyotype analysis, chromosome microarray analysis(CMA), 6pter/6qter probe fluorescence in situ hybridization(FISH), and CMA of fetus placenta and skin tissue at 25⁺⁵ weeks of gestation. A total of 82 cells were counted and 5 cells were analyzed in karyotype analysis of amniotic fluid cells. Results NIPT suggested a low risk of trisomy 21, 18 and 13 syndromes. The karyotype of amniotic fluid was 47,XN,+del(6)(p21.1)［24］/46,XN［58］. CMA indicated normal in the uncultured amniotic fluid cells, but 6q trisomy moasic in the cultured cells. FISH analyzed 100 uncultured cells, among which 89 were normal, and 6 were 6q trisomy. FISH test was normal. No abnormality was found in CMA of the placenta and skin tissue of the induced fetus. Conclusion Based on the results of fetal ultrasound, karyotype analysis and molecular genetic testing, the fetus was determined to be moasic with a very low proportion of trisomy 6q, and the risk of false negative was reduced.

Key words: Chromosome moasic, Prenatal diagnosis, Karyotype analysis, Chromosome Microarray, Fluorescence in situ hybridization

中图分类号:

R715

宋敏,周玉侠,高璐,刘娜,王菊,古晋,张艳萍. 1例6 q三体嵌合胎儿的产前诊断[J]. 山东大学学报 (医学版), 2022, 60(5): 109-113.

SONG Min, ZHOU Yuxia, GAO Lu, LIU Na, WANG Ju, GU Jin, ZHANG Yanping. Prenatal diagnosis for a fetus of mosaic trisomy 6q[J]. Journal of Shandong University (Health Sciences), 2022, 60(5): 109-113.

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