在一项与围产期非整倍体细胞系逐渐减少和良好胎儿结局相关的妊娠中，羊膜穿刺术发现马赛克远端 9p 缺失或 46,XY,del(9)(p23)/46,XY。
Mosaic distal 9p deletion or 46,XY,del(9)(p23)/46,XY at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.
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 and Health Science, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2024 Jul;63(4):540-544. doi: 10.1016/j.tjog.2024.05.007.
OBJECTIVE
We present mosaic distal 9p deletion at prenatal diagnosis in a pregnancy associated with a favorable fetal outcome.
CASE REPORT
A 34-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY, del(9)(p23)[8]/46,XY[17]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed 43% mosaicism for the 9p24.3p23 deletion. Prenatal ultrasound suspected hypospadias and echogenic bowel. At 23 weeks of gestation, she was referred for genetic counseling, and repeat amniocentesis revealed a karyotype of 46,XY,del(9)(p23)[10]/46,XY[10]. The parental karyotypes were normal. Molecular genetic analysis on uncultured amniocytes revealed no uniparental disomy (UPD) 9 by quantitative fluorescence polymerase chain reaction (QF-PCR) and arr 9p24.3p23 × 1.55 (40%-50% mosaicism) by aCGH. At 27 weeks of gestation, she underwent the third amniocentesis which revealed a karyotype of 46,XY,del(9)(p23)[6]/46,XY[14]. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 9p24.3p23 (35% mosaicism). Prenatal ultrasound was normal. She was advised to continue the pregnancy, and a 3020-g phenotypically normal male baby was delivered at 41 weeks of gestation. At birth, the karyotypes of cord blood, umbilical cord and placenta were 46,XY,del(9)(p23)[7]/46,XY[37], 46,XY,del(9)(p23)[17]/46,XY[23] and 46,XY in 40/40 cells, respectively. When follow-up at age three months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XY,del(9)(p23)[3]/46,XY[37], and interphase fluorescence in situ hybridization (FISH) analysis on buccal mucosal cells showed 13% (13/102 cells) mosaicism for the distal 9p deletion.
CONCLUSION
Mosaic distal 9p 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.
目的
我们在产前诊断中报告了镶嵌性远端 9p 缺失，该缺失与胎儿预后良好相关。
病例报告
一位 34 岁初产妇因高龄接受了 17 周的羊膜穿刺术。羊膜穿刺术显示核型为 46,XY，del(9)(p23)[8]/46,XY[17]。对未培养的羊水细胞提取的 DNA 进行的同时(array comparative genomic hybridization，aCGH)分析显示 9p24.3p23 缺失的镶嵌率为 43%。产前超声怀疑尿道下裂和肠回声增强。在 23 周时，她接受了遗传咨询，再次进行羊膜穿刺术显示核型为 46,XY，del(9)(p23)[10]/46,XY[10]。父母的核型正常。对未培养的羊水细胞进行的分子遗传学分析通过定量荧光聚合酶链反应(QF-PCR)显示无单亲二体性(Uniparental disomy，UPD)9，通过 aCGH 显示 arr 9p24.3p23×1.55(40%-50%镶嵌率)。在 27 周时，她进行了第三次羊膜穿刺术，显示核型为 46,XY，del(9)(p23)[6]/46,XY[14]。对未培养的羊水细胞提取的 DNA 进行的同时 aCGH 分析显示 arr 9p24.3p23 的结果为(35%镶嵌率)。产前超声正常。她被建议继续妊娠，在 41 周时分娩出一名 3020 克表型正常的男性婴儿。出生时，脐带血、脐带和胎盘的核型分别为 46,XY，del(9)(p23)[7]/46,XY[37]、46,XY，del(9)(p23)[17]/46,XY[23]和 46,XY，40/40 细胞。在三个月时进行随访时，新生儿表型和发育正常。外周血核型为 46,XY，del(9)(p23)[3]/46,XY[37]，颊黏膜细胞的间期荧光原位杂交(fluorescence in situ hybridization，FISH)分析显示远端 9p 缺失的镶嵌率为 13%(13/102 细胞)。
结论
产前诊断中具有正常细胞系的镶嵌性远端 9p 缺失可与胎儿预后良好相关，并伴有围产期未培养细胞系的进行性减少。
Zotero 插件