Baptiste Caitlin, Grati Francesca R, Levy Brynn
Departments of Obstetrics and Gynecology.
Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York.
Clin Obstet Gynecol. 2025 Mar 1;68(1):130-138. doi: 10.1097/GRF.0000000000000906. Epub 2024 Dec 23.
The clinical implications of placental chromosomal mosaicism can be challenging for patients and health care providers. Key considerations include the specific characteristics of the chromosomal abnormality (such as size, gene content, and copy number), the timing of the mosaicism's onset during embryogenesis or fetal development, the types of tissues involved, and the level of mosaicism (the ratio of normal to abnormal cells within those tissues). Genetic counseling can help inform patients about the chances of having a live-born child with a chromosomal abnormality. Each case requires individual assessment to provide accurate guidance. This chapter will explore the clinical implications of detecting mosaicism at 3 critical diagnostic stages: (1) chorionic villus sampling (CVS); (2) amniocentesis; and (3) cell-free DNA (cfDNA) testing.
胎盘染色体嵌合的临床意义对患者和医疗服务提供者而言可能具有挑战性。关键考虑因素包括染色体异常的具体特征（如大小、基因含量和拷贝数）、胚胎发生或胎儿发育过程中嵌合开始的时间、涉及的组织类型以及嵌合水平（这些组织中正常细胞与异常细胞的比例）。遗传咨询有助于告知患者生下患有染色体异常活产儿的几率。每个病例都需要进行个体评估以提供准确的指导。本章将探讨在3个关键诊断阶段检测到嵌合的临床意义：（1）绒毛取样（CVS）；（2）羊膜穿刺术；以及（3）游离DNA（cfDNA）检测。
