B. Eiben et al., Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization - Evaluation of > 3,000 cases, FETAL DIAGN, 14(4), 1999, pp. 193-197
Objective: A new method in prenatal diagnostics allows to demonstrate certa
in numeric chromosomal aneuploidies in amniotic cells within 24 h in contra
st to conventional methods which take 1-3 weeks. Materials: The experience
with this rapid fluorescence in situ hybridization (FISH) method is compare
d to standard karyotyping and its clinical relevance is described in a larg
e clinical pilot study. FISH on uncultured amniocytes has been performed fr
om 12 weeks of gestation to the third trimester using commercially availabl
e chromosome-specific DNA probes for chromosomes 13, 18, 21, X and Y. Resul
ts: FISH was performed successfully in 3,150 prenatal cases. All trisomies
13, 18 and 21 and all cases with gonosomal aberrations were detected by FIS
H analysis. Neither false-positive nor false-negative results were obtained
using FISH. For all analyzable disorders the FISH results were in complete
agreement with standard cytogenetics. Conclusions: In our experience, FISH
is a valuable and reliable method for rapid diagnosis of numeric chromosom
al aneuploidies.