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Dan S.,BGI Shenzhen | Dan S.,Capital Medical University | Wang W.,BGI Shenzhen | Ren J.,University of Jinan | And 32 more authors.
Prenatal Diagnosis | Year: 2012

Objective: To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China. Method: The MPS-based test was offered as a prenatal screening test for trisomies 21 and 18 to pregnant women in 49 medical centers over 2years. A total of 11263 participants were recruited and the MPS-based test was performed in 11105 pregnancies. Fetal outcome data were obtained after the expected date of confinement. Results: One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18. With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18. Conclusion: Our large-scale multicenter study proved that the MPS-based test is of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The introduction of this screening test into a routine clinical setting could avoid about 98% of invasive prenatal diagnostic procedures. © 2012 John Wiley & Sons, Ltd.

Wu Q.,Xiamen Prenatal Diagnosis Center | Zhou Y.-L.,Xiamen Prenatal Diagnosis Center | Kong H.,Xiamen Prenatal Diagnosis Center | Zeng H.,Xiamen Prenatal Diagnosis Center | And 10 more authors.
Chinese Journal of Medical Genetics | Year: 2013

Objective: To assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes. Methods: Sixteen patients with marker chromosomes were analyzed with technologies including GTG-banding, Q-banding. multiplex FISH and BAC-FISH. Results: The marker chromosomes in the 16 patients were verified as der(Y) (2 cases), psu dic(Y) (1 case), psu dic(15) (1 case), dic(15) (1 case), del(Y) (1 case), r(X) (5 cases), i(14 or 22) (2 cases), i(18) (1 case). Conclusion: FISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.

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