The application and significance in prenatal diagnosis using G-banding, fluorescence in situ hybridization and comparative genomic hybridization.
- VernacularTitle:G-显带技术、荧光原位杂交和比较基因组杂交技术在产前诊断中的应用
- Author:
Wei-she ZHANG
1
;
Qi-neng CHEN
;
Xin-hua WU
;
Qing-hua LIANG
Author Information
- Publication Type:Journal Article
- MeSH: Chromosome Aberrations; statistics & numerical data; Chromosome Banding; methods; Chromosome Disorders; diagnosis; genetics; Chromosomes, Human, Pair 18; Comparative Genomic Hybridization; methods; Female; Fetus; Gestational Age; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability; genetics; Karyotyping; methods; Male; Nucleic Acid Hybridization; methods; Pregnancy; Prenatal Diagnosis; statistics & numerical data; Risk Factors; Ultrasonography, Prenatal; methods
- From: Chinese Journal of Medical Genetics 2009;26(2):156-160
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the procedure and the value of G-banding, fluorescence in sit hybridization (FISH) and comparative genomic hybridization (CGH) techniques in prenatal diagnosis.
METHODSKaryotype analyses with three diagnostic procedures, G-banding, G-banding and FISH, G-banding, FISH and CGH, were performed in the amniotic fluid samples taken from 102 fetuses at gestational ages 16-24 weeks. And the significance was valued in prenatal diagnosis.
RESULTSIn the first procedure of karyotype analysis, 98 cases were diagnosed, 2 cases were not conformed while 2 cases were failed in all 102 cases. In the second procedure, 2 cases were determined, 1 case was not conformed and 1 case was still failed. In the third step, 2 cases were diagnosed. The diagnostic rate of the karyotype reached to 100% (102/102 cases) using all the three procedures. In total, seven cases with chromosomal abnormality were diagnosed. Four cases, 1 case and 2 cases were identified in the first step (4/7, 57.1%), the second (1/7, 14.3%) and the third (2/7, 28.5%), respectively.
CONCLUSIONIt can help improve the diagnostic rate of chromosomal aberrations and standardize diagnostic procedure to perform the three detecting steps in prenatal diagnosis.