Building Reproductive Genetic Services from Bottom Up: Over 30-year Experience of a Major Prenatal Diagnostic Center in Guangdong Province

Aihua Yin, MD, PhD, Xiaozhuang Zhang, MD, PhD, Ning Ye, MD, MBA, Jing Wu, MD, Xiaoying Pan, MS, Li Guo, MS


Prenatal diagnosis plays an important role in preventing birth defects and improving birth quality. Through continuous efforts from the past three decades, the Guangdong Women and Children’s Hospital has transform a small department of medical genetics into a prenatal center for genetic disease diagnosis and treatment (PCGDDT). A wide spectrum of genetic tests including clinical cytogentics, biochemical screening and molecular genetics has been performed. A biobank of patient specimens for translational research has been established. PCGDDT has been one of the key disciplines of Guangdong Women and Children Hospital and master degree training hospital for Guangzhou Medical University, state-level professional training base in clinical and laboratory technology, and priority specialty of Guangdong Province. Our experience represents a bottom up approach to build sustainable hospital-based and institute-affiliated genetic services in China.

[N A J Med Sci. 2013;6(4):216-218.   DOI:  10.7156/najms.2013.0604216]


bottom-up approach, genetic screening, prenatal diagnosis, biobanking

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Aihua Yin, Bing Li, Mingyong Luo, et al. The prevalence and molecular spectrum of α- and β-globin gene mutations in 14332 families of Guangdong Province, China. PLOS ONE. [in revising]

Aihua Yin, Chang Liu, Yan Zhang, et al. The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age. BMC Med Genet. 2013;29;14:57.

Aihua Yin, Xiangzhong Zhang,Jing Wu, Li Du, Tianwen He, Xiaozhuang Zhang. Screening significantly hypermethylated genes in fetal tissues compared with maternal blood using a methylated-CpG island recovery assay-based microarray. BMC Med Genomics. 2012;5(1):26.

Deng YH, Yin AH, He Q, et al. Non-invasive Prenatal diagnosis of Trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification. Clin Chem Lab Med. 2011;49(4):641–646.

Tang YP, Wu YS, Yin AH, Xu WW, Yuan PH, Li M. Determination of median levels of the free beta subunit of human chorionic gonadotropin in women from Mainland China using a new time-resolved fluoroimmunoassay. Clinical Chemistry and Laboratory. 2010;48(1):1437-1433.

Yin A, Ng H, Yu E, et al. Correlation of maternal plasma total cell-free DNA and fetal DNA levels with outcome of first-trimester vaginal bleeding. Hum Reprod. 2007;22(6):1736-1743.

Lu J, Li H, He T, et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR: a retrospective analysis on 3075 clinical samples. Journal of Tropical Medicine (in Chinese). 2012;12(9):1083-1085.

Guo L, Wu J, Fu W, Wang T, Pan X. Karyotype analysis of chorionic villus chromosome in early spontaneous abortion. Zhong Hua Yi Xue Yi Chuan Xue Za Zhi (in Chinese). 2010;27(6):720-721.

Zhong Y, Wu J, Guo L, et al. Comment the prenatal diagnosis methods of congenital parvoirus B19 infection. Chinese Journal of Birth Health & Heredity (in Chinese). 2006;14(6):77-78.

Du L, Yin A, Liang J, et al. Study on gene mutation of 2324 cases with β-thalassemia. Journal of Molecular Diagnosis and Therapy (in Chinese). 2010;2(1):364-366.


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