Overwhelming maternal cell contamination in amniotic fluid samples from patients with oligohydramnios can lead to false prenatal interphase FISH results

Rapid prenatal diagnosis in translocation carriers by interphase FISH with chromosome‐specific subtelomere probes

“…However, this should only be necessary where any of the translocation breakpoints are very distal, such the t(19;22)(q13.4;q13.3) in cases 2 and 11 (Table I). As with all interphase FISH analyses, maternal cell contamination may lead to difficulties in interpretation, so should be considered when faced with apparent mosaicism or discordant signal patterns [Ward et al, 1993; Estabrooks et al, 1999].…”

Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier

“…A full karyotype also has the advantage of identifying other chromosomal aneusomies not tested for by the interphase FISH analysis. As with all interphase FISH analyses, maternal cell contamination may lead to dif®culties in interpretation, so should be considered when faced with apparent mosaicism or discordant signal patterns (Ward et al, 1993;Estabrooks et al, 1999). Nevertheless, the use of interphase FISH analysis on prenatal samples from translocation carrier parents allows rapid exclusion of unbalanced segregants that present the highest risk of abnormal offspring.…”

False-negative finding in rapid interphase FISH analysis of uncultured amniotic cells

“…According to the Vysis company 99.9 per cent of analysable aberrations can be detected (www.Vysis.com). Apart from four cases of sex-discrepancy results, because of maternal cell contamination in oligohydramnios (Estabrooks et al, 1999), up to now no false-positive or false-negative findings for the analysable chromosomal aberrations have been reported with this system in a large study (Eiben et al, 1998a). Because prenatal diagnosis is a highly sensitive field high diagnostic reliability is expected.…”