Tharapel S A, Dev V G, Shulman L P, Tharapel A T
Cytogenetics Reference Laboratory, Pathology and Laboratory Medicine Services, Veterans Affairs Medical Center, Memphis, TN 38104, USA.
Ann Genet. 1998;41(2):69-72.
Spontaneously-dividing nucleated erythrocytes present in prenatal cordocentesis samples can be used to obtain fetal karyotype information within 24 hours. Following a modified protocol we performed rapid chromosome analysis on fetal blood from 70 second- and third-trimester fetuses. In all cases cordocentesis was performed following detection of ultrasound abnormalities. Cytogenetic diagnoses were obtained within 24 hours from 59 (84.3%) of the 70 samples. Follow-up chromosome analysis from mitogen-stimulated cultures showed concordant results in 57 of the 59 successful cases. In one case a mosaicism for 45, X[4]/46,X,i(X)(q10)[4] was detected in unstimulated harvest while mitogen-stimulated preparations showed only the 46,X,i(X)(q10) line. In the second case, a marker chromosome was identified in all 5 cells analyzed from the unstimulated harvest while mitogen-stimulated cultures showed only 4 out of 100 cells with the marker.
产前脐带穿刺样本中存在的自发分裂有核红细胞可用于在24小时内获取胎儿核型信息。按照改良方案，我们对70例孕中期和孕晚期胎儿的胎儿血液进行了快速染色体分析。在所有病例中，均在检测到超声异常后进行脐带穿刺。70个样本中有59个（84.3%）在24小时内获得了细胞遗传学诊断结果。对有丝分裂原刺激培养物进行的后续染色体分析显示，59例成功病例中有57例结果一致。在1例病例中，未刺激收获物中检测到45,X[4]/46,X,i(X)(q10)[4]的嵌合体，而有丝分裂原刺激制备物仅显示46,X,i(X)(q10)细胞系。在第2例病例中，未刺激收获物分析的所有5个细胞中均鉴定出一条标记染色体，而有丝分裂原刺激培养物在100个细胞中仅显示4个带有该标记的细胞。
