Korean J Obstet Gynecol.  1998 Nov;41(11):2859-2863.

Detection of Down Syndrome & Edward Syndrome in uncultured amniocytes using FISH ( Fluorescence In Situ Hybridization

• Moon SY
• Choi J
• Hwang DY
• Choi YM
• Chang EJ
• Cheong KS
• Kim KC
• Min EG
• Lee JY

Abstract

FISH is suggested as a possible method to detect the numerical and structural abnormalities of chromosomes in interphase nucleus. We performed this study to discuss the clinical usefulness of FISH in uncultured amniocytes and to set up the cut-off value for further study. We collected amniotic fluid samples from patients whose chromosome studies were recommended due to screen positive for Down and Edword syndrome in triple marker test using maternal serum. The centromeric probe for chromosome 18 and the locus-specific probe for chromosome 21 were used and the results were compared to their karyotypes. We could find 2 cases of trisony 21 and 2 cases of trisony 18 and the other cases represented normal karyotypes. The accuracies were 91% for disomy 18, 89% for trisomy 18, 92% for disomy 21 and 88% for trisomy 21. Therefore FISH technique is a possible method to detect the chromosomal abnormalities in uncultured amniocytes and the use of locus-specific probe for chromosome 21 would be more useful for detecting the aneuploidy of chromosome 21 than 13/21 centromeric probe.

Keyword

FISH; Uncultured amnioctes; Down syndrome; Edward syndrome

MeSH Terms

Amniotic Fluid
Aneuploidy
Chromosome Aberrations
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 21
Down Syndrome*
Female
Fluorescence*
Humans
In Situ Hybridization*
In Situ Hybridization, Fluorescence
Interphase
Karyotype
Trisomy