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 Obstetrics and Gynecology, Shin-Kong Wu-Ho-SU Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2022 Jan;61(1):146-149. doi: 10.1016/j.tjog.2021.11.025.
We present prenatal diagnosis of maternal uniparental disomy (UPD) 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR) and a favorable outcome.
A 42-year-old, gravida 2, para 0, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis initially revealed a karyotype of 46,XX in 20/20 colonies of cultured amniocytes. Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed a result of arr [GRCh37] (21) × 3 [0.16], (X) × 2, compatible with mosaic trisomy 21. After extensive investigation, the final result of conventional cytogenetic analysis of cultured amniocytes was 47,XX,+21[1]/46,XX[40]. The parental karyotypes were normal. Repeat amniocentesis was performed at 21 weeks of gestation. The cultured amniocytes had a karyotype of 47,XX,+21[3]/46,XX[27] and the uncultured amniocytes had a mosaic trisomy 21 level of 8.8% (10/114 cells) by interphase fluorescence in situ hybridization (FISH), a mosaic trisomy 21 level of 10% (log ratio = 0.08) by aCGH, and maternal UPD 21 by polymorphic DNA marker analysis. Prenatal ultrasound revealed IUGR. At 38 weeks of gestation, a phenotypically normal 2695-g baby was delivered. The cord blood and umbilical cord had the karyotype of 46,XX and maternal UPD 21. The placenta had a karyotype of 47,XX,+21[8]/46,XX[32] and a maternal origin of trisomy 21. Postnatal FISH analysis on 101 buccal mucosal cells showed 6.9% (7/101 cells) mosaicism compared with 2% (2/100 cells) in the normal control. The baby was doing well at age four months.
Pregnancy with low-level mosaic trisomy 21 and maternal UPD 21 at amniocentesis can be associated with IUGR and a favorable outcome. Fetuses with maternal UPD 21 can be associated with mosaic trisomy 21 at amniocentesis.
我们报告了一例产前诊断为母体单亲二体 21 号（UPD21），同时伴有低水平嵌合性三体 21 号在羊膜穿刺术时，与宫内生长受限（IUGR）和良好的结局相关联。
一位 42 岁，孕 2 产 0 的女性，因高龄行羊膜穿刺术，穿刺在妊娠 17 周进行。最初的羊膜穿刺细胞培养显示 20/20 个培养的羊膜细胞的核型为 46,XX。同时对未培养的羊膜细胞进行阵列比较基因组杂交（aCGH）分析，结果显示 arr [GRCh37]（21）×3 [0.16]，（X）×2，与嵌合性三体 21 相符。经过广泛的调查，最终的培养羊膜细胞的常规细胞遗传学分析结果为 47,XX,+21[1]/46,XX[40]。父母的核型正常。在妊娠 21 周时再次进行羊膜穿刺术。培养的羊膜细胞的核型为 47,XX,+21[3]/46,XX[27]，未培养的羊膜细胞的嵌合性三体 21 水平为 8.8%（10/114 个细胞），通过间期荧光原位杂交（FISH），嵌合性三体 21 水平为 10%（log 比值=0.08），通过 aCGH，以及多态性 DNA 标记分析显示母体 UPD21。产前超声显示 IUGR。在 38 周时，一个表型正常的 2695 克婴儿出生。脐带血和脐带的核型为 46,XX 和母体 UPD21。胎盘的核型为 47,XX,+21[8]/46,XX[32]，具有三体 21 号的母源来源。101 个口腔颊黏膜细胞的产后 FISH 分析显示，与正常对照组的 2%（2/100 个细胞）相比，嵌合性为 6.9%（7/101 个细胞）。婴儿在四个月大时表现良好。
在羊膜穿刺术时伴有低水平嵌合性三体 21 号和母体 UPD21 的妊娠可与 IUGR 和良好的结局相关联。具有母体 UPD21 的胎儿可与羊膜穿刺术时的嵌合性三体 21 号相关联。
