羊水穿刺检查发现镶嵌型 18 三体与妊娠的有利胎儿结局相关。
Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy.
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 Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2022 Jul;61(4):690-694. doi: 10.1016/j.tjog.2022.05.006.
OBJECTIVE
We present prenatal diagnosis of mosaic trisomy 18 by amniocentesis associated with a favorable fetal outcome in a pregnancy.
CASE REPORT
A 42-year-old, gravida 4, para 2, woman underwent amniocentesis at 18 weeks of gestation because advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+18[6]/46,XX[17]. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes showed the result of 45% mosaicism for trisomy 18. At 25 weeks of gestation, the woman underwent repeat amniocentesis which revealed a karyotype of 47,XX,+18[10]/46,XX[24]. Simultaneous aCGH on uncultured amniocytes showed the result of arr 18p11.32q23 (148,963-78,012,829) × 2.3 [GRCh (hg19)] with a log ratio of 0.2-0.25 compatible with 30-38% mosaicism for trisomy 18. The parental karyotypes were normal. Prenatal ultrasound was unremarkable. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes showed 27% (27/100 cells) mosaicism for trisomy 18. Quantitative fluorescent polymerase chain reaction (QF-PCR) on uncultured amniocytes excluded uniparental disomy (UPD) 18. Non-invasive prenatal testing (NIPT) analysis at 34 weeks of gestation revealed a significant gene dosage increase of chromosome 18 (29.95; normal control: -3.0-3.0). At 39 weeks of gestation, a 2840-g phenotypically normal baby was delivered. The cord blood had a karyotype of 47,XX,+18[8]/46,XX[32]. The placenta was trisomy 18 of maternal origin. The umbilical cord had a karyotype of 47,XX,+18[2]/46,XX[38]. At age 1½ months, the peripheral blood had a karyotype of 47,XX,+18[5]/46,XX[35], and FISH analysis on buccal mucosal cells revealed 2% (2/102 cells) mosaicism for trisomy 18. When follow-up at age seven months, the neonate was phenotypically normal, and the peripheral blood had a karyotype of 47,XX,+18[1]/46,XX[39].
CONCLUSIONS
Mosaic trisomy 18 at amniocentesis without abnormal fetal ultrasound can be associated with a favorable outcome, and the abnormal trisomy 18 cell line may decrease progressively after birth.
目的
我们通过羊水穿刺术对一例妊娠合并嵌合体 18 三体进行产前诊断，并获得了良好的胎儿结局。
病例报告
一位 42 岁，孕 4 产 2 的女性因高龄接受了 18 周的羊水穿刺术。羊水穿刺结果显示核型为 47,XX,+18[6]/46,XX[17]。同时对未培养的羊水细胞进行了比较基因组杂交(array comparative genomic hybridization, aCGH)，结果显示 18 三体嵌合体率为 45%。25 周时，该女性再次接受了羊水穿刺，核型为 47,XX,+18[10]/46,XX[24]。同时对未培养的羊水细胞进行了 aCGH，结果显示 arr 18p11.32q23（148,963-78,012,829）×2.3[GRCh (hg19)]，log 比值为 0.2-0.25，提示 18 三体嵌合体率为 30%-38%。父母的核型均正常。产前超声无异常。未培养的羊水细胞间期荧光原位杂交（fluorescence in situ hybridization, FISH）显示 18 三体嵌合体率为 27%（27/100 个细胞）。未培养的羊水细胞定量荧光聚合酶链反应（quantitative fluorescent polymerase chain reaction, QF-PCR）排除了 18 三体单亲二体（uniparental disomy, UPD）。34 周时，非侵入性产前检测（non-invasive prenatal testing, NIPT）显示 18 号染色体基因剂量显著增加（29.95；正常对照：-3.0-3.0）。39 周时，分娩出一名 2840g 的表型正常婴儿。脐带血核型为 47,XX,+18[8]/46,XX[32]。胎盘来源于母体的 18 三体。脐带核型为 47,XX,+18[2]/46,XX[38]。1 个半月时，外周血核型为 47,XX,+18[5]/46,XX[35]，颊黏膜细胞 FISH 分析显示 18 三体嵌合体率为 2%（2/102 个细胞）。7 个月随访时，新生儿表型正常，外周血核型为 47,XX,+18[1]/46,XX[39]。
结论
无异常胎儿超声的羊水穿刺术发现嵌合体 18 三体可获得良好的妊娠结局，异常的 18 三体细胞系可能会在出生后逐渐减少。
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