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Assessment of multiple quantitative fluorescence PCR technique for common chromosome ;aneuploidies / 中华检验医学杂志
Chinese Journal of Laboratory Medicine ; (12): 50-54, 2017.
Article in Chinese | WPRIM | ID: wpr-506907
ABSTRACT
Objective To evaluate the effectiveness of multiple quantitative fluorescence PCR ( QF-PCR) as a rapid technique for prenatal diagnosis of common chromosome aneuploidies , in order to optimize the prenatal diagnosis and shorten the period of diagnosis.Methods Totally 731 amniotic fluid samples of pregnant subjects ,who were referred to the Women′s Hospital School of Medicine Zhejiang University during August 2013 and September 2015, were analyzed with conventional karyotype and the QF-PCR technique by short tandem repeat(STR) markers to detect chromosomes 13,18,21,X and Y aneuploidies.There were 558 samples detected by single blind method , 173 samples detected by double blind method.Results All of the 731 amniotic fluid samples were tested in this study by QF-PCR and the results were compared to the conventional cytogenetic analysis results of the same sample.Totally 558 samples with single blind method detected 5 trisomy 21, 2 trisomy 18, 1 trisomy 13, 1(45,X), 1(47,XXY), 1(47,XYY), 1(47,XXX) and 1(69,XXX), 173 samples with double blind method detected 1 trisomy 21 and 1 trisomy 18.The rapid QF-PCR assay was successful to detect all aneuploidies involving chromosomes 21, 18, 13, X and Y in prenatal diagnosis , which were verified by chromosome karyotype analysis.The results of QF-PCR method were compared with the results of chromosome karyotype analysis , the positive rate was 15/16, the negative rate was 100%(715/715).Non chimeric chromosome abnormality detection rate was 15/15.Conclusions The multiple QF-PCR was a reliable method of detecting common chromosome aneuploidies for rapid prenatal diagnosis.As an important supplement of karyotype analysis , it was of great significance to optimize and improve the prenatal diagnosis system , and might provide more appropriate diagnostic methods for pregnant women.

Full text: Available Index: WPRIM (Western Pacific) Type of study: Controlled clinical trial Language: Chinese Journal: Chinese Journal of Laboratory Medicine Year: 2017 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Controlled clinical trial Language: Chinese Journal: Chinese Journal of Laboratory Medicine Year: 2017 Type: Article