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Prenatal Diagnosis Center

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The total genetic counseling cases for 2013 were 26,000. We completed 13,996 first trimester combined Down screening tests, with 90% detection rate of and 2.8% false positive rate, and 3,116 prenatal invasive tests including 374 CVS. Chromosome microarray analysis (CMA) has been widely used in 378 clinical detection cases, including 63 cases of known syndromes and 28 cases of likely pathogenic microdeletion/microduplication involved in all 23 chromosomes. By using CMA technology, we first identified DPP6 gene causing congenital microcephaly and NDUFA4 gene causing congenital Dandy-Walker malformations. Prof.Can Liao was invited to give lecture on Common benign variants in fetuses with congenital malformation— Five years of clinical experience on the 17th ISPD conference. Three SCI articles on CMA research were published this year. In the research field of thalassemia, we first reported the experience of prenatal control of nondeletional α-thalassemia in mainland China. We also first reported the prevalence of γ-thalassemia in Chinese population. A novel α gene mutation, codon 62(GTG>GCG,Val→Ala, was found in a case. In 2013, our department was awarded the Guangzhou key medical specialty, published 12 SCI papers,and won one national invention patent. One key program was granted by Guangzhou Municipal Science and Technology Bureau, and another key program was granted by Guangzhou City Health Bureau

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