国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2022, Vol. 41 ›› Issue (3): 207-209.doi: 10.12280/gjszjk.20220014

• 病例报告 • 上一篇    下一篇

胎盘嵌合型16三体合并胎儿生长受限一例

李姗姗, 申永梅, 卫卓, 陈凌, 姚立英, 张蕾, 李雯, 曹家松, 常颖()   

  1. 300100 天津市中心妇产科医院天津市人类发育与生殖调控重点实验室（李姗姗,申永梅,卫卓,李雯,曹家松,常颖）,病理科（陈凌）,产前诊断中心（姚立英,张蕾,常颖）
  • 收稿日期:2022-01-07 出版日期:2022-05-15 发布日期:2022-05-30
  • 通讯作者: 常颖 E-mail:changying4470@sina.com
  • 基金资助:
    天津市科技计划项目(20JCYBJC01400)

A Case of Confined Placental Mosaicism of Trisomy 16 Combined with Fetal Growth Restriction

LI Shan-shan, SHEN Yong-mei, WEI Zhuo, CHEN Ling, YAO Li-ying, ZHANG Lei, LI Wen, CAO Jia-song, CHANG Ying()   

  1. Tianjin Key Laboratory of Human Development and Reproductive Regulation (LI Shan-shan, SHEN Yong-mei, WEI Zhuo, LI Wen, CAO Jia-song, CHANG Ying), Department of Pathology (CHEN Ling), Prenatal Diagnosis Center (YAO Li-ying, ZHANG Lei, CHANG Ying), Tianjin Central Hospital of Gynecology Obstetrics, Tianjin 300100, China
  • Received:2022-01-07 Published:2022-05-15 Online:2022-05-30
  • Contact: CHANG Ying E-mail:changying4470@sina.com

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摘要：

报告1例胎儿生长受限（fetal growth restriction,FGR）孕妇,该孕妇因无创产前筛查提示16号染色体偏多行产前诊断,羊水基因组拷贝数变异测序（copy number variants sequencing,CNV-Seq）结果显示16三体嵌合体（16%）。孕37+2周因胎儿小于孕周3周于天津市中心妇产科医院就诊,因胎儿宫内窘迫行急诊剖宫产,新生儿为足月小样低体质量儿。对新生儿外周血及胎盘多位点取样分别进行核型分析和高通量测序,结果显示新生儿核型为46, XX, 16qh+,胎盘检测结果为16三体嵌合体。随访至出生5个月,生长发育正常。该病例及文献复习提示羊水穿刺仅CNV-Seq一项检测显示染色体嵌合体者,有必要结合荧光原位杂交技术或单核苷酸多态性-微阵列比较基因组杂交技术验证,并密切监测超声,给予合理的遗传咨询;限制性胎盘嵌合型16三体引起胎盘功能障碍可导致FGR。

关键词: 胎儿生长迟缓, 胎儿窘迫, 羊膜腔穿刺术, 产前诊断, 局限性胎盘嵌合体, 高通量测序

Abstract:

We report a case of pregnant woman with fetal growth restriction (FGR). In this case, non-invasive prenatal testing showed the excessive chromosome 16, and the amniotic fluid genome copy number variants sequencing showed 16 trisomy mosaicism (16%). The pregnant woman came to our hospital at 37+2 weeks of gestation because the fetus was less than 3 weeks of gestational weeks. Emergency cesarean section was operated due to fetal distress. The newborn was a full-term low birth weight infant. The karyotype analysis and high-throughput sequencing of neonatal peripheral blood and placenta samples at multiple sites showed that the neonatal karyotype was 46, XX, 16qh+, and that the placenta tests were trisomy 16 mosaicism. Follow-up to five months after birth, the child was currently growing and developing normally. This case and literature suggest that it is necessary to combine FISH or SNP array when only CNV-Seq test showed chromosomal mosaicism by amniocentesis, to monitor ultrasound closely and give reasonable genetic counseling. The confined placental mosaicism of trisomy 16 can cause placental dysfunction and FGR.

Key words: Fetal growth retardation, Fetal distress, Amniocentesis, Prenatal diagnosis, Confined placental mosaicism, High-throughput sequencing