产前检测后表型正常胎儿中的12号染色体三体嵌合现象。

Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection.

作者信息

Wyandt H E, Maher T, Fisher N L, Patil S R, Osella P, Luthardt F W, Kawada C, Williamson R, Milunsky A

机构信息

Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118.

出版信息

Prenat Diagn. 1990 Sep;10(9):569-74. doi: 10.1002/pd.1970100904.

DOI:10.1002/pd.1970100904

PMID:2267235

Abstract

We report three cases of amniocentesis in which mosaicism for trisomy 12 was detected in two or more independent cultures. The parents elected to terminate the pregnancy in all three cases. Follow-up studies in two of the cases confirmed the mosaicism in fetal tissues (in subcutaneous tissue in one case; in fetal lung in the other), but not in blood. No fetal anomalies were evident by ultrasound or at autopsy. These results along with other reported cases demonstrate the difficulty in counselling for mosaic trisomy 12.

摘要

我们报告了三例羊膜穿刺术病例，在两个或更多独立培养物中检测到12三体嵌合体。三例中父母均选择终止妊娠。其中两例的后续研究证实胎儿组织中存在嵌合体（一例存在于皮下组织；另一例存在于胎儿肺中），但血液中未检测到。超声检查或尸检均未发现明显的胎儿异常。这些结果以及其他报告的病例表明，对12三体嵌合体进行咨询存在困难。