Optimized procedure for fluorescence in situ hybridization in rapid prenatal diagnosis of common aneuploidy.
- Author:
Jing WU
1
;
Mei ZHONG
;
Jian LU
;
Xiao-ying PAN
;
Li GUO
;
Ting WANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amniotic Fluid; cytology; Aneuploidy; Female; Humans; In Situ Hybridization, Fluorescence; methods; Karyotyping; Pregnancy; Prenatal Diagnosis; methods; Young Adult
- From: Chinese Journal of Medical Genetics 2011;28(6):658-660
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo optimize the procedure of fluorescence in situ hybridization (FISH), and evaluate it in rapid prenatal diagnosis of common aneuploidy.
METHODSAmniotic fluid samples from 300 pregnant women were tested by both interphase FISH and conventional cell culture for karyotyping from September 2009 and September 2010.
RESULTSSeven cases of trisomy 21, 4 of trisomy 18, 2 of monosomy X, 1 of XXY, 1 of XXX, and 1 of triploidy were detected by FISH in the 300 amniotic fluid samples. It was concordant with the results from conventional karyotype analysis. The concordance rate was 100%.
CONCLUSIONThrough a technical modification of FISH procedure, the detection accuracy and specificity was not affected but testing cost reduced greatly. It can be used in rapid prenatal diagnosis of common aneuploidy.
