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Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes |
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| Authors: | Mark J Pettenati Chris Von Kap-Herr Bethy Jackle Peggy Bobby Philip Mowrey Stuart Schwartz P Nagesh Rao Jon Rosnes |
| Institution: | 1. Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC, USA;2. Laboratory Corporation of America, Research Triangle Park, NC, USA;3. Department of Genetics and Center for Human Genetics, Case Western Reserve University and University Hospital of Cleveland, Cleveland, OH, USA;4. Department of Pathology, University of California at Los Angles, Los Angles, CA, USA;5. Department of Obstetrics and Gynecology, Wake Forest University School of Medicine, Winston-Salem, NC, USA |
| Abstract: | 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. Copyright © 2002 John Wiley & Sons, Ltd. |
| Keywords: | prenatal diagnosis interphase reciprocal translocations |