南方医科大学学报

南方医科大学学报 ›› 2023, Vol. 43 ›› Issue (12): 2071-2077.doi: 10.12122/j.issn.1673-4254.2023.12.11

• • 上一篇    下一篇

非侵入性产前检测对胎儿罕见染色体三体的检测价值

谢潇潇，赵青冬，胡凌云，姜淑芳，王晓萍，张文玲，李 珍，游艳琴，卢彦平   

  1. 解放军总医院第一医学中心妇产科，临检科，北京 100853
  • 出版日期:2023-12-20 发布日期:2023-12-29

Value of non-invasive prenatal testing for rare autosomal trisomies in fetuses

XIE Xiaoxiao, ZHAO Qingdong, HU Lingyun, JIANG Shufang, WANG Xiaoping, ZHANG Wenling, LI Zhen, YOU Yanqin, LU Yanping   

  1. Department of Gynecology and Obstetrics, Department of Clinical Laboratory, First Medical Center of Chinese PLA General Hospital, Beijing 100853, China
  • Online:2023-12-20 Published:2023-12-29

RichHTML

16

PDF

179

摘要： 目的 探讨非侵入性产前检测对罕见的染色体三体的检测价值。方法 收集2019年1月~2023年4月本院通过非侵入性产前检测检出罕见染色体三体高风险的病例，临床咨询后进行侵入性产前诊断，使用染色体核型分析、染色体微阵列分析、染色体拷贝数变异测序、间期荧光原位杂交等技术进行检测，分析结果并随访妊娠结局，以评价非侵入性产前检测对罕见染色体三体的检测价值。结果 25 282例进行非侵入性产前检测的病例中，血浆游离DNA检出罕见的染色体三体高风险56例（0.22%），以7号染色体病例数最多，占45%（25/56），仅1、4、17、19号染色体未检出病例。46例获得胎儿遗传学检测结果，其中10例为胎儿真性嵌合，总体阳性预测值为22%（10/46），7号染色体阳性预测值10%（2/20）。52例随访到妊娠结局，除胎儿真性嵌合之外，33例（63%）妊娠结局良好，10例发生不良妊娠结局，包括胎儿生长受限、早产以及母体的妊娠期合并症及并发症，胎儿生长受限通常最早发生。随访完整的22例7号染色体非真性嵌合病例中，82%病例妊娠结局良好。结论 非侵入性产前检测在一定程度上增加了罕见染色体三体真性嵌合胎儿的检出，但阳性预测值不高；侵入性产前检测未提示胎儿存在嵌合细胞系的病例大部分预后良好，尤其是7号染色体，咨询时可告知孕妇以缓解焦虑，但仍有发生母儿不良妊娠结局的风险，加强妊娠期监测和管理能够使这部分孕妇获益。未行非侵入性产前检测的孕妇，孕中晚期发现胎儿生长受限，如侵入性产前检测未提示异常，可以补充非侵入性产前检测协助查找胎儿生长受限原因。

关键词: 罕见的染色体三体；非侵入性产前检测；胎儿真性嵌合；限制性胎盘嵌合

Abstract: Objective To evaluate the value of non-invasive prenatal testing (NIPT) for detecting rare autosomal trisomies in fetuses. Methods We retrospectively analyzed the data of cases with rare autosomal trisomies detected by NIPT in our hospital from January, 2019 to April, 2023. Invasive prenatal diagnostic tests including chromosome karyotype analysis, chromosome microarray analysis, copy number variation sequencing, and fluorescence in situ hybridization were performed in all the cases after clinical counseling, and their test results and pregnancy outcomes were analyzed. Results Among 25 282 women receiving NIPT, 56 (0.22%) were found to have high risks for rare autosomal trisomies in circulating plasma DNA. Trisomy 7 was the most frequently detected trisomy, accounting for 45% of the total cases (25/56), while trisomies 1, 4, 17, and 19 were not detected. Among the 46 cases with genetic results of the fetuses, 10 were identified to have true fetal mosaicism. The overall positive predictive value of NIPT was 22% (10/46) for rare autosomal trisomies, and 10% for trisomy 7 (2/20). Of the 52 cases followed up for pregnancy outcomes, 33 (63% ) cases without fetal mosaicism resulted in normal live births, while 10 had unfavorable outcomes including fetal growth restriction, preterm birth, and maternal complications, and among them fetal growth restriction was the most typical and the earliest condition observed in these cases. Among the 22 followed up cases of non-true mosaicism for trisomy 7, 82% resulted in normal live births. Conclusion NIPT increases the detection rate of true fetal mosaicism but with a low positive predictive value. Most of the cases with non- true mosaicism, particularly trisomy 7, can have favorable outcomes. NIPT can also be useful in identifying causes of fetal growth restriction in the second and third trimesters when invasive prenatal testing does not reveal abnormalities.

Key words: rare autosomal trisomies; noninvasive prenatal testing; true fetal mosaicism; confined placental mosaicism