Liou J D, Chen C P, Breg W R, Hobbins J C, Mahoney M J, Yang-Feng T L
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Prenat Diagn. 1993 Jan;13(1):1-8. doi: 10.1002/pd.1970130102.
From September 1984 to April 1991, we performed cytogenetic analysis on fetal blood samples from 214 second- and third-trimester pregnancies. One hundred and thirty-four cases were referred to consider the possibility of chromosomal mosaicism following amniocyte studies. The confirmation rate of mosaicism is at 0 per cent (0/9), 1.4 per cent (1/70), and 40 per cent (22/55) for cases of level I, level II, and level III mosaicism, respectively. Four out of 17 cases were positive for the diagnosis of fragile X syndrome. Of 63 cases with abnormal ultrasound findings, blood disorders, or other genetically related clinical conditions, 11 were found to have a chromosome abnormality. Fetal blood sampling is a valuable adjunct to other methods in the prenatal diagnosis of chromosomal mosaicism or pseudomosaicism. It is also useful when rapid cytogenetic diagnosis is desired because of malformations detected in pregnancies at a late gestational age.
1984年9月至1991年4月，我们对214例孕中期和孕晚期妊娠的胎儿血样进行了细胞遗传学分析。134例病例是在羊水细胞研究后因考虑染色体嵌合体的可能性而被转诊的。对于I级、II级和III级嵌合体病例，嵌合体的确诊率分别为0%（0/9）、1.4%（1/70）和40%（22/55）。17例病例中有4例脆性X综合征诊断呈阳性。在63例有超声异常表现、血液疾病或其他遗传相关临床情况的病例中，有11例被发现存在染色体异常。胎儿血样采集是产前诊断染色体嵌合体或假嵌合体时其他方法的一种有价值的辅助手段。当因晚期妊娠中检测到的畸形而需要快速进行细胞遗传学诊断时，它也很有用。
