羊水穿刺检查中 22 号染色体三体嵌合体：产前诊断及文献复习。
Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review.
机构信息
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, 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.
Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan; Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, Hsinchu, Taiwan; MacKay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2019 Sep;58(5):692-697. doi: 10.1016/j.tjog.2019.07.020.
OBJECTIVE
We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature.
CASE REPORT
A 37-year-old woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+22[9]/46,XX[9]. Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes showed a result of arr(22) × 3 [0.8]. Prenatal ultrasound revealed fetal median facial cleft, oligohydramnios and IUGR. Repeat amniocentesis at 22 weeks of gestation using uncultured amniocytes revealed an aCGH result of arr 22q11.1q13.33 (17,397,498-51,178,264) × 2.8 compatible with 80% mosaicism for trisomy 22, and a fluorescence in situ hybridization (FISH) result of mosaic trisomy 22 with trisomy 22 in 54/100 interphase cells. The cultured amniocytes at repeat amniocentesis had a karyotype of 47,XX,+22[12]/46,XX[8]. The parental karyotypes were normal. Polymorphic DNA marker analysis confirmed a maternal origin of the extra chromosome 22. The pregnancy was terminated, and a 256-g female fetus was delivered with facial dysmorphism and median facial cleft. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+22[33]/46,XX[7].
CONCLUSION
Fetuses with high level mosaicism for trisomy 22 at amniocentesis may present IUGR, facial cleft and oligohydramnios on prenatal ultrasound.
目的
我们报告了一例在羊水穿刺检查中发现的嵌合体 22 三体产前诊断病例，该病例妊娠合并面部裂、羊水过少和宫内生长受限（IUGR），并对相关文献进行了回顾。
病例报告
一位 37 岁的女性因高龄行羊水穿刺术，穿刺时孕周为 19 周。羊水穿刺的核型分析结果为 47,XX,+22[9]/46,XX[9]。未培养羊水细胞的 array comparative genomic hybridization (aCGH) 分析结果显示为 arr(22)×3 [0.8]。产前超声显示胎儿存在正中面部裂、羊水过少和 IUGR。22 周时再次行未培养羊水细胞的羊水穿刺术，aCGH 分析结果为 arr 22q11.1q13.33（17,397,498-51,178,264）×2.8，提示 22 三体嵌合体的比例为 80%，荧光原位杂交（FISH）分析结果为 54/100 间期细胞中存在嵌合体 22 三体。再次羊水穿刺时培养的羊水细胞核型为 47,XX,+22[12]/46,XX[8]。父母双方的核型均正常。多态性 DNA 标记分析证实额外的 22 号染色体来源于母亲。妊娠终止，娩出一 256g 女婴，其存在面部畸形和正中面部裂。皮肤成纤维细胞的细胞遗传学分析显示核型为 47,XX,+22[33]/46,XX[7]。
结论
在羊水穿刺检查中发现的高水平嵌合体 22 三体胎儿，其产前超声可能会显示出 IUGR、面部裂和羊水过少。
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