Prenatal diagnosis of common chromosomal aneuploidies on uncultured amniotic fluid cells by fluorescence in situ hybridization.
- Author:
Hong-mei XIAO
1
;
Yue-qiu TAN
;
Lu-yun LI
;
Guang-xiu LU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amniocentesis; Amniotic Fluid; cytology; Aneuploidy; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 21; Chromosomes, Human, X; Chromosomes, Human, Y; Down Syndrome; diagnosis; genetics; Female; Humans; In Situ Hybridization, Fluorescence; Pregnancy; Prenatal Diagnosis; methods; Trisomy
- From: Chinese Journal of Medical Genetics 2004;21(6):608-610
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSAmniotic 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.
RESULTSEach 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).
CONCLUSIONInterphase FISH analysis of uncultured amniotic fluid cells is a rapid, accurate and very sensitive method. It could be used in the prenatal cytogenetic laboratory.
