绒毛细胞遗传学的问题之一是存在染色体镶嵌性或罕见的非镶嵌性三体的存在没有表现在羊水细胞中。 病例1 39岁高龄孕妇,孕3产2,在孕10.4周时进行绒毛活检。在所有的细胞中发现了47.XX+16的核型。羊膜腔穿刺术显示了正常的46,XX核型。在37周时分娩了一个2300g女婴,此婴儿无畸形。 病例2 36岁的高龄孕妇在孕14.3周 One of the problems with villus cytogenetics is the presence of chromosomal mosaicism or rare non-mosaic trisomy that is not present in amniotic fluid cells. Case 1 39-year-old pregnant women, 3 pregnant 2, at 10.4 weeks pregnant when the villus biopsy. 47.XX + 16 karyotype was found in all cells. Amniocentesis shows normal 46, XX karyotypes. A 3700g baby girl was delivered at 37 weeks without any deformity. Case 2 A 36-year-old pregnant woman is 14.3 weeks pregnant