Korean J Fertil Steril.  2003 Sep;30(3):223-232.

Prenatal Aneuploidy Detection in Uncultured Amniotic Fluid Interphase Cells by Fluorescence in situ Hybridization (FISH)

• Seol HW
• Ko HJ
• Song NH
• Kim SR
• Lee HJ
• Oh SK
• Park JS
• Jun JK
• Yoon BH
• Syn HC
• Moon SY

Abstract

OBJECTIVE
The aim of the present study was to evaluate the clinical efficiency of fluorescent in situ hybridization (FISH) in the prenatal diagnosis of chromosomal aneuploidy.
METHODS
We reviewed data of 268 cases to identify women undergoing genetic amniocentesis at cytogenetic laboratory, from January 2000 to December 2002. Amniotic fluid was submitted for both rapid FISH on uncultured interphase amniocytes using a commercially available DNA probe for chromosome 13, 18, 21, X, Y and standard karyotyping on cultured metaphase amniocytes. Results from FISH and full karyotype were compared.
RESULTS
There were 251 cases (84%) normal and 17 cases (16%) abnormal in FISH results. All 17 cases of trisomy 13, 18, 21 including two cases of mosaicism and sex chromosome aneuploidies which are detected by FISH were confirmed with conventional cytogenetics and there was no false positive result. Twenty two cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH.
CONCLUSION
Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be an effective and reliable technique for rapid fetal aneuploidy screening during pregnancy as an adjunctive test to conventional cytogenetics.

Keyword

Prenatal genetic diagnosis; Aneuploidy; FISH

MeSH Terms

Amniocentesis
Amniotic Fluid*
Aneuploidy*
Chromosomes, Human, Pair 13
Cytogenetics
DNA
Female
Fluorescence*
Humans
In Situ Hybridization*
In Situ Hybridization, Fluorescence
Interphase*
Karyotype
Karyotyping
Mass Screening
Metaphase
Mosaicism
Pregnancy
Prenatal Diagnosis
Sex Chromosomes
Trisomy
DNA