[Prenatal diagnosis of common chromosomal aneuploidies on uncultured amniotic fluid cells by fluorescence in situ hybridization].
OBJECTIVE
To evaluate the feasibility of using fluorescence in situ hybridization(FISH) for the detection of a few common chromosome aneuploidies on interphase nuclei of uncultured amniotic fluid cells.


METHODS
Amniotic fluid samples were taken from 55 women at 16-32 weeks of pregnancy; interphase FISH was performed for diagnosing Down syndrome and aneuploidies of other four chromosomes 13, 18, X and Y. Then the karyotypes from standard cytogenetic analysis after percutaneous umbilical blood sampling(PUBS) were compared to the FISH results.


RESULTS
Each of the 55 uncultured amniotic fluid samples tested with FISH was enumerated 200 nuclei. Fifty-three samples were normal. Two samples were found to have trisomy 21(one is a case of standard trisomy 21 with three signals in all 200 nuclei, the other is a mosaic trisomy 21).


CONCLUSIONS
Interphase FISH analysis of uncultured amniotic fluid cells is a rapid, accurate and very sensitive method. It could be used in the prenatal cytogenetic laboratory.
Xiao
Hong-mei
HM
Reproduction and Genetics Hospital of CITIC-XIANGYA, Institute of Reproduction and Stem Cell Engineering Xiangya School of Medicine, Central South University, Changsha, Hunan, 410078 P. R. China.
Tan
Yue-qiu
YQ
Li
Lu-yun
LY
Lu
Guang-xiu
GX
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology*; D000782:Aneuploidy; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy