Pettenati Mark J, Von Kap-Herr Chris, Jackle Bethy, Bobby Peggy, Mowrey Philip, Schwartz Stuart, Rao P Nagesh, Rosnes Jon
Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.
Prenat Diagn. 2002 Mar;22(3):193-7. doi: 10.1002/pd.282.
Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular-cytogenetic analysis of terminal chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian chromosome translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced chromosome anomalies of a fetus that could result from parental translocations.
间期荧光原位杂交（FISH）已成为一种公认的实验室技术，用于对染色体非整倍体进行快速初步的产前评估。亚端粒FISH探针的引入，现在可以对末端染色体重排进行分子细胞遗传学分析。在一项前瞻性研究中，当父母一方携带已知的相互易位或罗伯逊易位时，我们检测了亚端粒探针在间期细胞上的产前应用，以快速检测胎儿的携带者状态。其中3例被鉴定为异常。所有病例均通过常规细胞遗传学分析得到证实。这些发现清楚地证明了该技术和这些探针在快速、正确识别胎儿因父母易位可能导致的平衡和不平衡染色体异常方面的效用。
