Simpson J L, Elias S
Department of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Prenat Diagn. 1994 Dec;14(13):1229-42. doi: 10.1002/pd.1970141308.
Fetal cells unequivocally exist in and can be isolated from maternal blood. Erythroblasts, trophoblasts, granulocytes and lymphocytes have all been isolated by various density gradient and flow sorting techniques. Chromosomal abnormalities detected on isolated fetal cells include trisomy 21, trisomy 18, Klinefelter syndrome (47,XXY) and 47,XYY. Polymerase chain reaction (PCR) technology has enabled the detection of fetal sex, Mendelian disorders (e.g. beta-globin mutations), HLA polymorphisms, and fetal Rhesus (D) blood type. The fetal cell type that has generated the most success is the nucleated erythrocyte; however, trophoblasts, lymphocytes and granulocytes are also considered to be present in maternal blood. Fetal cells circulate in maternal blood during the first and second trimesters, and their detection is probably not affected by Rh or ABO maternal-fetal incompatibilities. Emphasis is now directed toward determining the most practical and efficacious manner for this technique to be applied to prenatal genetic diagnosis. Only upon completion of clinical evaluations could it be considered appropriate to offer this technology as an alternative to conventional invasive and non-invasive methods of prenatal cytogenetic diagnosis.
胎儿细胞确实存在于母血中，并且可以从母血中分离出来。通过各种密度梯度和流式分选技术已分离出成红细胞、滋养层细胞、粒细胞和淋巴细胞。在分离出的胎儿细胞上检测到的染色体异常包括21三体、18三体、克兰费尔特综合征（47,XXY）和47,XYY。聚合酶链反应（PCR）技术已能够检测胎儿性别、孟德尔疾病（如β-珠蛋白突变）、HLA多态性以及胎儿恒河猴（D）血型。取得最大成功的胎儿细胞类型是有核红细胞；然而，滋养层细胞、淋巴细胞和粒细胞也被认为存在于母血中。胎儿细胞在妊娠前三个月和第二个三个月期间在母血中循环，其检测可能不受Rh或ABO母胎血型不合的影响。现在的重点是确定将该技术应用于产前基因诊断的最实用和有效的方式。只有在完成临床评估后，才可以认为将该技术作为传统侵入性和非侵入性产前细胞遗传学诊断方法的替代方法是合适的。
