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Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes
Author(s) -
Pettenati Mark J.,
Von KapHerr Chris,
Jackle Bethy,
Bobby Peggy,
Mowrey Philip,
Schwartz Stuart,
Nagesh Rao P.,
Rosnes Jon
Publication year - 2002
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.282
Subject(s) - chromosomal translocation , subtelomere , interphase , fluorescence in situ hybridization , aneuploidy , prenatal diagnosis , chromosome , biology , karyotype , chromosome analysis , cytogenetics , trisomy , robertsonian translocation , genetics , fetus , fish <actinopterygii> , pregnancy , gene , fishery
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.