Watson M S, Breg W R, Hobbins J C, Mahoney M J
Am J Med Genet. 1984 Dec;19(4):805-13. doi: 10.1002/ajmg.1320190422.
Cytogenetic studies on fetal blood cells obtained at 18-25 weeks gestation have provided information for decision making in 25 cases identified as being at high risk of having an abnormal fetus. In particular, in the 21 cases studied to consider the possibility of true mosaicism, confirmation in fetal blood was obtained in three, one of which presented as a pseudomosaic on the original amniotic fluid cell study. Fetal blood was also informative in two cases (one positive and the other negative) in which a diagnosis of the fragile X syndrome was being considered. Furthermore, when high risk pregnancies presented late in gestation (21-24 weeks), these methods allowed for a rapid cytogenetic diagnosis. The procedure has proved useful in most of these cases since the couples involved had indicated that they would probably have terminated the pregnancy without the reassurance of normal fetal lymphocyte studies. Since the technique carries a much higher risk of pregnancy loss than does amniocentesis, its use should only be considered when there are compelling indications.
对妊娠18 - 25周时获取的胎儿血细胞进行的细胞遗传学研究，为25例被确定为胎儿异常高危的病例提供了决策信息。特别是，在研究的21例考虑真性嵌合体可能性的病例中，有3例在胎儿血液中得到证实，其中1例在最初的羊水细胞研究中表现为假嵌合体。在考虑脆性X综合征诊断的2例病例（1例阳性，1例阴性）中，胎儿血液检测也提供了信息。此外，当高危妊娠发生在妊娠晚期（21 - 24周）时，这些方法可实现快速细胞遗传学诊断。该方法在大多数此类病例中已证明是有用的，因为相关夫妇表示，如果没有正常胎儿淋巴细胞研究的结果让他们放心，他们可能会终止妊娠。由于该技术导致妊娠丢失的风险比羊膜穿刺术高得多，因此只有在有令人信服的指征时才应考虑使用。
