Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence <i>in situ</i> hybridization (FISH)

Pettenati, Mark J.; Hayworth, R.; Cox, Kelly; Rao, P. Nagesh

doi:10.1111/j.1399-0004.1994.tb03983.x

Cited by 9 publications

References 7 publications

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Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (Fish)

1994

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FISH is a quick, inexpensive, accurate, sensitive and relatively specific method for aneuploidy detection in samples of uncultured chorionic villus cells and amniotic fluid cells. FISH allows detection of the autosomal trisomies 13, 18 and 21 and X and Y abnormalities and any other chromosome abnormality for which a specific probe is available. The detection rate of these abnormalities is high in informative samples which have a concordance of > 99.5% with cytogenetic results. A relatively high number of abnormal cases are found in uninformative samples. However, such samples should be regarded as samples to be investigated further. Clinical experience with the use of FISH for prenatal diagnosis is now beyond 10,000 cases; a number of clinical protocols and smaller trials have also been carried out, resulting in 90% of attempted analyses giving informative results with a high detection rate and extraordinarily low false-positive and false-negative rates. Unsolved problems remain, such as occasional technical failures, admixtures of maternal blood and up to 20% uninformative scoring results, especially for abnormal specimens. FISH is at present used as an adjunct to classical cytogenetic analysis. However, this should not be interpreted as meaning that FISH could not be used as a methodology in its own right. If FISH were to be considered a diagnostic test then this might be the case, due to the risk of false-negative and false-positive results and the fact that FISH does not allow a diagnosis of certain structural abnormalities. If, on the other hand, FISH is considered a screening test, which means that in all abnormal (or indeterminate) cases, classical cytogenetic analysis would follow the abnormal screening test, the accuracy which is potentially higher than for other screening methods, for example in cases of trisomy 21, justifies FISH as a prenatal screening test in its own right.

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Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (Fish)

1994

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Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes

et al. 2002

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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.

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Prenatal diagnosis of mosaic distal 5p deletion and review of the literature

et al. 2004

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The cri-du-chat syndrome can be identified prenatally because of advanced maternal age, familial cri-du-chat syndrome, parental balanced translocations involving chromosome 5, sonographically detected fetal structural abnormalities, and/or an abnormal maternal serum test. Fetuses with the mosaic distal 5p deletion may be associated with the sonographic findings of microcephaly and cerebellar hypoplasia, and fetoplacental and fetoamnionic chromosomal discrepancies.

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Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH)

Cited by 9 publications

References 7 publications

Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (Fish)

Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (Fish)

Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes

Prenatal diagnosis of mosaic distal 5p deletion and review of the literature

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