Publications
BGI Research Papers on Methodology
Chen F., et al. (2017). Isolation and whole genome sequencing of fetal cells from maternal blood towards the ultimate non-invasive prenatal testing. WILEY
Chen, E. Z., et al. (2011). Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing. PLoS ONE. 2011_ 6(7) e217
Chiu, R.W., et al. (2011). Non-invasive prenatal assessment of trisomy 21 by multiplexed maternalplasma DNA sequencing large scale validity study. BMJ. 20
Jiang H., et al. (2016) Noninvasive Prenatal Paternity Testing (NIPAT) through Maternal Plasma DNA Sequencing A Pilot Study. PLOS ONE 11(9) e0159385. http
Jiang, F., et al. (2012). Non-invasive Fetal Trisomy (NIFTY) test an advanced non-invasive prenatal diagnosis methodology for fetal autosomal and sex chro
Kang, X.,et al. (2016). An Advanced Model to Precisely Estimate the Cell-Free Fetal DNA Concentration in Maternal Plasma. PLoS One, 11(9), e0161928. doi 1
Lau, T. K., et al. (2012). Non-invasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neon
Pan, X., et al. (2014). Non-invasive fetal sex determination by maternal plasma sequencing and application in X-linked disorder counseling. The Journal of
Yuan, Y., et al. (2013). Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy. Clinical Chemistry 2013 May
Zhou, Y., et al. (2015). Effects of Maternal and Fetal Characteristics on Cell-Free Fetal DNA Fraction in Maternal Plasma. Reprod Sci, 22(11), 1429-1435.
BGI Research Papers on Clinical Validation & Application
Choi, H., et al. (2013). Fetal aneuploidy screening by maternal plasma DNA sequencing _false positive_ due to confined placental mosaicism
Gao, Y., et al. (2013). A T18 false negative result by NIPT in a XXX, T18 case due to placental mosaicis. Ultrasound Obstetrics Gynecol. 2
Hong, Y., et al. (2012). Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X. Prenatal Diagnosis 2012(32)
Ji, X., et al. (2016). Incidental identification of maternal malignancies in two Asian women underwent noninvasive prenatal test. bioRxiv
Lau, T.K., et al. (2013). Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing a
Pan, M., et al. (2013). Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a
Pan, Q., et al. (2014). A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings. Mol Cyt
Xiong, W., et al. (2015). Reproductive management through integration of PGD and MPS-based noninvasive prenatal screeningdiagnosis for a f
BGI Research Papers on Clinical Case
Hong, Y., et al. (2012). Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X. Prenatal Diagnosis 2012(32), 1114-1116
Choi, H., el at. (2013). Fetal aneuploidy screening by maternal plasma DNA sequencing 'false positive' due to confined placental mosaicism. Prenatal Diagnosis 2013 Feb;33(2):198-200
Xiong, W., et al. (2015). Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment. Sci China Life Sci, 58(9), 829-838. doi: 10.1007/s11427-015-4936-y
Pan, M., Li, F.T., Li, Y., et al. (2013). Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenatal Diagnosis 2013 Jun;33(6):598-601.
Gao, Y., el at. (2013). A T18 false negative result by NIPT in a XXX, T18 case due to placental mosaicis. Ultrasound Obstetrics Gynecol. 2013 Nov;43(4)
Pan, Q., Sun, B., Huang, X., Jing, X., Liu, H., Jiang, F., . . . Ning, Y. (2014). A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings. Mol Cytogenet, 7, 48. doi: 10.1186/1755-8166-7-48
Lau, T.K., et al. (2013). Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenatal Diagnosis 2013 Jun;33(6):602-8
BGI Research Papers on Twin
Huang, H., et al. (2014). Non-invasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin preg
Lau, T. K., et al. (2013). Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies. The Journa
Tan, Y., et al. (2016). Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a singl
Zheng, J., et al. (2013). Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing. PLoS One 2013 Jun 10_8(6)e65050
BGI Research Papers on Non-Invasive Chromosome Deletion/Repetition
Chen, S., et al. (2013). A method for noninvasive detection of fetal large deletions duplications by low coverage massively parall
Liu, H., et al. (2016). Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Ge
Zhang, C., et al. (2013). A single cell level based method for copy number variation analysis by low coverage massively parallel se
BGI Research Papers on Non-Invasive Single Gene & Whole Genome
Chen, M., et al. (2016). Targeted Sequencing of Maternal Plasma for HaplotypeBased Non-Invasive Prenatal Testing of Spinal Muscular Atroph
Chen, S., et al. (2013). Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing. Genetics
Ge, H., et al. (2013). Noninvasive Prenatal Detection for Pathogenic CNVs- The Application in α Thalassemia. PLoS ONE 8(6)e67464.
Liu, S., et al. (2015). Primer-Introduced Restriction Analysis Polymerase Chain Reaction Method for Non-Invasive Prenatal Testing of β-Tha
Ma, D., et al. (2014). Haplotype-Based Approach for Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia by Maternal Plasma DN
Meng, M., et al. (2014). Noninvasive Prenatal Testing for Autosomal Recessive Disease by Maternal Plasma Sequencing in a Case of Congenita
Xu, Y., et al. (2015). Haplotype-Based Approach for Noninvasive Prenatal Tests of Duchenne Muscular Dystrophy Using Cell-Free Fetal DNA in Materna
You, Y., et al. (2014). Integration of Targeted Sequencing and NIPT into Clinical Practice in a Chinese Family with Maple Syrup Urine Dise
BGI Research Papers on Chinese Literature Articles
