羊膜穿刺术诊断产前嵌合性三体 16 一例，该病例与异常早孕期筛查结果（低 PAPP-A 和低 PlGF）、胎儿宫内生长受限相关，结局良好。
Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable 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, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, BinKun Women and Children Hospital, Taoyuan, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2021 Nov;60(6):1107-1111. doi: 10.1016/j.tjog.2021.09.026.
OBJECTIVE
We present prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with an abnormal first-trimester screening result, intrauterine growth restriction (IUGR) and a favorable outcome.
CASE REPORT
A 27-year-old woman underwent amniocentesis at 18 weeks of gestation because of an abnormal first-trimester screening result with maternal serum free β-hCG of 1.474 multiples of the median (MoM), pregnancy associated plasma protein-A (PAPP-A) of 0.122 MoM and placental growth factor (PlGF) of 0.101 MoM, and a Down syndrome risk of 1/45. Amniocentesis revealed a karyotype of 47,XY,+16 [9]/46,XY [16] and an abnormal array comparative genomic hybridization (aCGH) result of arr (16) × 3 [0.54] compatible with 54% mosaicism for trisomy 16 in uncultured amniocytes. At 24 weeks of gestation, repeat amniocentesis revealed a karyotype of 47,XY,+16 [4]/46,XY [16] and an aCGH result of arr 16p13.3q24.3 (96,766-90,567,357) × 2.25 with a log ratio = 0.2 compatible with 20-30% mosaicism for trisomy 16 in uncultured amniocytes. Quantitative fluorescent polymerase chain reaction (QF-PCR) excluded uniparental disomy (UPD) 16. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed 19.4% (12/62 cells) mosaic trisomy 16. Prenatal ultrasound revealed IUGR. At 36 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 1900 g. The cord blood had a karyotype of 46,XY. QF-PCR analysis confirmed biparentally inherited disomy 16 in the cord blood and maternal-origin of trisomy 16 in the placenta. When follow-up at age two months, FISH analysis on 101 buccal mucosal cells and 32 urinary cells revealed no signal of trisomy 16.
CONCLUSION
Mosaic trisomy 16 at amniocentesis can be associated with IUGR and an abnormal first-trimester screening result with low PAPP-A and low PlGF. Mosaic trisomy 16 without UPD 16 at amniocentesis can have a favorable outcome, and the abnormal triosmy 16 cell line may disappear after birth.
目的
我们通过羊膜穿刺术对一例与异常早孕期筛查结果、宫内生长受限（IUGR）和良好结局相关的妊娠中的嵌合体 16 三体进行产前诊断。
病例报告
一名 27 岁女性因早孕期筛查异常，即母体血清游离β-hCG 为 1.474 中位数倍数（MoM）、妊娠相关血浆蛋白-A（PAPP-A）为 0.122 MoM 和胎盘生长因子（PlGF）为 0.101 MoM，唐氏综合征风险为 1/45，接受了羊膜穿刺术。羊膜穿刺术显示核型为 47,XY,+16 [9]/46,XY [16]，异常 array 比较基因组杂交（aCGH）结果为 arr（16）×3 [0.54]，提示未培养羊水中 16 三体的嵌合体率为 54%。24 周时，重复羊膜穿刺术显示核型为 47,XY,+16 [4]/46,XY [16]，aCGH 结果为 arr 16p13.3q24.3（96,766-90,567,357）×2.25，log 比值=0.2，提示未培养羊水中 16 三体的嵌合体率为 20-30%。定量荧光聚合酶链反应（QF-PCR）排除了 16 号单亲二体（UPD）。未培养羊水中的间期荧光原位杂交（FISH）分析显示 19.4%（12/62 个细胞）嵌合体 16 三体。产前超声显示 IUGR。36 周时，分娩出一表型正常的婴儿，体重 1900g。脐带血核型为 46,XY。QF-PCR 分析证实脐带血中存在双亲遗传的 16 号三体，胎盘为 16 号三体的母源来源。2 个月时随访时，101 个口腔黏膜细胞和 32 个尿样细胞的 FISH 分析未发现 16 三体信号。
结论
羊膜穿刺术时的嵌合体 16 三体可与 IUGR 和早孕期筛查异常相关，表现为低 PAPP-A 和低 PlGF。羊膜穿刺术时未发现 UPD 16 的嵌合体 16 三体可获得良好结局，异常的三体型 16 号细胞系可能在出生后消失。
Zotero 插件