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.
Taiwan J Obstet Gynecol. 2019 Sep;58(5):692-697. doi: 10.1016/j.tjog.2019.07.020.
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.
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].
Fetuses with high level mosaicism for trisomy 22 at amniocentesis may present IUGR, facial cleft and oligohydramnios on prenatal ultrasound.
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。
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]。
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。
