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.
Taiwan J Obstet Gynecol. 2024 May;63(3):398-401. doi: 10.1016/j.tjog.2024.03.008.
We present mosaic distal 10q deletion at prenatal diagnosis in a pregnancy associated with a favorable fetal outcome.
A 40-year-old, gravida 2, para 0, woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY, del(10) (q26.13)[6]/46,XY[17]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed 35% mosaicism for the 10q26.13q26.3 deletion. At 22 weeks of gestation, she underwent cordocentesis which revealed a karyotype of 46,XY,del(10) (q26.13)[16]/46,XY[24]. Prenatal ultrasound findings were normal. At 24 weeks of gestation, she was referred for genetic counseling, and repeat amniocentesis revealed a karyotype of 46,XY,del(10) (q26.13)[4]/46,XY[22]. The parental karyotypes were normal. Molecular genetic analysis on uncultured amniocytes revealed no uniparental disomy (UPD) 10 by quantitative fluorescence polymerase chain reaction (QF-PCR), arr 10q26.13q26.3 × 1.6 (40% mosaicism) by aCGH, and 29.8% (31/104 cells) mosaicism for the distal 10q deletion by interphase fluorescence in situ hybridization (FISH). The woman was advised to continue the pregnancy, and a phenotypically normal 2,900-g male baby was delivered at 39 weeks of gestation. The cord blood had a karyotype of 46,XY,del(10) (q26.13)[6]/46,XY[34], and both the umbilical cord and the placenta had the karyotype of 46,XY. When follow-up at age four months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XY,del(10) (q26.13)[5]/46,XY[35], and interphase FISH analysis on buccal mucosal cells showed 8% (8/102 cells) mosaicism for distal 10q deletion.
Mosaic distal 10q deletion with a normal cell line at prenatal diagnosis can be associated with a favorable fetal outcome and perinatal progressive decrease of the aneuploid cell line.
我们在产前诊断中呈现镶嵌性远端 10q 缺失，与有利的胎儿结局相关。
一位 40 岁、孕 2 产 0 的女性，因高龄行羊膜穿刺术，妊娠 16 周。羊膜穿刺术显示核型为 46,XY，del(10)(q26.13)[6]/46,XY[17]。从未培养的羊膜细胞中提取的 DNA 进行的同时比较基因组杂交（aCGH）分析显示，10q26.13q26.3 缺失存在 35%的镶嵌性。在妊娠 22 周时，她进行了脐带穿刺术，显示核型为 46,XY，del(10)(q26.13)[16]/46,XY[24]。产前超声检查结果正常。妊娠 24 周时，她接受了遗传咨询，并再次进行了羊膜穿刺术，显示核型为 46,XY，del(10)(q26.13)[4]/46,XY[22]。父母的核型正常。未培养的羊膜细胞的分子遗传学分析显示，定量荧光聚合酶链反应（QF-PCR）未发现单亲二体性（UPD）10，aCGH 显示 10q26.13q26.3×1.6（40%镶嵌性），间期荧光原位杂交（FISH）显示远端 10q 缺失的镶嵌性为 29.8%（31/104 个细胞）。建议该女性继续妊娠，并于妊娠 39 周分娩出一名表型正常的 2900g 男婴。脐带血核型为 46,XY，del(10)(q26.13)[6]/46,XY[34]，脐带和胎盘核型均为 46,XY。在 4 个月大时进行随访时，新生儿表型和发育正常。外周血核型为 46,XY，del(10)(q26.13)[5]/46,XY[35]，颊黏膜细胞的间期 FISH 分析显示，远端 10q 缺失的镶嵌性为 8%（8/102 个细胞）。
产前诊断中存在镶嵌性远端 10q 缺失和正常细胞系可能与有利的胎儿结局和围产期非整倍体细胞系的逐渐减少有关。
Zotero 插件