[Interphase FISH test as a rapid test for trisomies in amniotic fluid--results of a prospective study].

Abstract

BACKGROUND:

Specific DNA probes allow rapid prenatal diagnosis of numerical chromosome disorders (chromosomes 13, 18, 21, X, Y) by FISH on interphase nuclei. The diagnostic reliability is presently under evaluation.

STUDY GROUP:

In a period of 1.5 years a total 1126 amniotic fluid samples was investigated by FISH compared to standard cytogenetic analysis.

RESULTS:

The success rate was 93 percent (< or = 30 nuclei) and 84% (< or = 50 nuclei). An abnormal karyotype was detected by FISH in 27 of 28 successfully hybridised samples, including trisomy 21 [16], trisomy 13 [4], trisomy 18 [4], aberrations of sex chromosomes [4]. Two cases with clinically relevant cytogenetic abnormalities were in principle not detectable by FISH. One false-negative finding was observed, possibly arising from maternal cell contamination of the sample. 6% of all samples, respectively 23% of the bloody samples were contaminated by maternal cells (more than 10%).

CONCLUSION:

Maternal contamination represents the most important limitation of the diagnostic reliability in routine practice.

• Authors: K Bink, H U Pauer, I Bartels
• Journal: Zeitschrift fur Geburtshilfe und Neonatologie (Z Geburtshilfe Neonatol) 2000 Jan-Feb Vol. 204 Issue 1 Pg. 8-13 ISSN: 0948-2393 [Print] Germany
• Vernacular Title: Interphase-FISH-Test als Schnelltest für Trisomien im Fruchtwasser--Ergebnisse einer prospektiven Untersuchung.
• PMID: 10721180 (Publication Type: English Abstract, Journal Article, Review)

Topics

• Amniocentesis
• Chromosome Aberrations (diagnosis, genetics)
• Chromosome Disorders
• Down Syndrome (diagnosis, genetics)
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Infant, Newborn
• Interphase (genetics)
• Karyotyping
• Pregnancy
• Prospective Studies
• Trisomy (genetics)