Center for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Prenat Diagn. 2021 Mar;41(4):409-421. doi: 10.1002/pd.5875. Epub 2020 Dec 18.
To evaluate the risk of fetal involvement when trisomy 8 mosaicism (T8M) is detected in chorionic villus samples (CVS).
A retrospective descriptive study of registered pregnancies in Denmark with T8M in CVS identified through a database search and a review of published cases of T8M found through a systematic literature search and inclusion of cross references. Pregnancies with T8M in CVS and no additional numerical chromosomal aberrations were included.
A total of 37 Danish cases and 60 published cases were included. T8M detected in a CVS was associated with fetal involvement in 18 out of 97 pregnancies (18.6% [95%CI: 11.4-27.7]). Eight out of 70 (11.4% [95%CI: 5.1-21.3]) interpreted prenatally to be confined placental mosaicism (CPM) were subsequently found to be true fetal mosaicisms (TFM).
T8M detected in CVS poses a significant risk of fetal involvement, and examination of amniotic fluid (AF) and/or fetal tissue should be offered. However, a normal result of AF still has a considerable residual risk of fetal involvement. Genetic counselling at an early gestational age is essential, and follow-up ultrasonography should be performed to predict fetal involvement if possible.
评估在绒毛膜绒毛样本（CVS）中检测到 8 三体嵌合体（T8M）时胎儿受累的风险。
通过数据库搜索和系统文献检索并纳入交叉引用，对丹麦登记的 T8M 在 CVS 中的妊娠进行回顾性描述性研究。纳入的妊娠均为 CVS 中存在 T8M 且无其他额外的染色体数目异常。
共纳入 37 例丹麦病例和 60 例已发表病例。CVS 中检测到的 T8M 与 97 例妊娠中的 18 例（18.6% [95%CI：11.4-27.7]）胎儿受累相关。70 例产前诊断为局限性胎盘嵌合体（CPM）中有 8 例（11.4% [95%CI：5.1-21.3]）随后被发现为真正的胎儿嵌合体（TFM）。
CVS 中检测到的 T8M 存在胎儿受累的显著风险，应提供羊水（AF）和/或胎儿组织检查。然而，AF 的正常结果仍有相当大的胎儿受累残余风险。早期进行遗传咨询至关重要，如果可能，应进行后续超声检查以预测胎儿受累。
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