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Original Article

First trimester combined screening for Trisomy 21 in Hong Kong: outcome of the first 10,000 cases

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Pages 300-304 | Received 24 Jul 2008, Accepted 19 Aug 2008, Published online: 07 Jul 2009

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Tze Kin Lau, Mei Ki Chan, Pui Shan Salome Lo, Hon Yee Connie Chan, Wai Sze Kim Chan, Tik Yee Koo, Hoi Yan Joyce Ng & Ritsuko K. Pooh. (2012) Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience. The Journal of Maternal-Fetal & Neonatal Medicine 25:10, pages 1856-1859.
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Daljit Singh Sahota, Wing Cheong Leung, Wing Kee To, Wing Pan Chan, Tze Kin Lau & Tak Yeung Leung. (2012) Quality assurance of nuchal translucency for prenatal fetal Down syndrome screening. The Journal of Maternal-Fetal & Neonatal Medicine 25:7, pages 1039-1043.
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Daljit Singh Sahota, Ritsuko Kimata Pooh, Kwong Wai Choy, Tak Yeung Leung & Tze Kin Lau. (2012) First trimester serum markers stability during sample transportation from the obstetrical site to the screening laboratory. The Journal of Maternal-Fetal & Neonatal Medicine 25:7, pages 966-969.
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Daljit Singh Sahota, Min Chen, Tak Yeung Leung, Lin Wai Chan, Tak Yuen Fung, Yuen Ha Ting & Tze Kin Lau. (2011) Assessment of sonographer nuchal translucency measurement performance – central tendency and dispersion. The Journal of Maternal-Fetal & Neonatal Medicine 24:6, pages 812-816.
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Lai Wa Law, Daljit Singh Sahota, Lin Wai Chan, Min Chen, Tze Kin Lau & Tak Yeung Leung. (2010) Effect of long-term storage on placental growth factor and fms-like tyrosine kinase 1 measurements in samples from pregnant women. The Journal of Maternal-Fetal & Neonatal Medicine 23:12, pages 1475-1480.
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Louise D Bryant & Tom Shakespeare. 2022. Born Well: Prenatal Genetics and the Future of Having Children. Born Well: Prenatal Genetics and the Future of Having Children 45 56 .
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Aubrey Milunsky & Jeff M. MilunskyHoward Cuckle. 2021. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 240 300 .
Manuel Sánchez-Seiz. (2021) Screening for aneuploidies in twin gestation. Obstetrics & Gynecology International Journal 12:3, pages 160-178.
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Yan Wei, Lizheng Shi, Jian Ming, Luyang He, Yan Xu & Yingyao Chen. (2020) Physicians' perception toward non-invasive prenatal testing through the eye of the Rogers' diffusion of innovation theory in China. International Journal of Technology Assessment in Health Care 36:3, pages 239-244.
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S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson & Zarko Alfirevic. (2017) First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening. Cochrane Database of Systematic Reviews 2017:3.
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S Tu, M Rosenthal, D Wang, J Huang & Y Chen. (2016) Performance of prenatal screening using maternal serum and ultrasound markers for Down syndrome in Chinese women: a systematic review and meta-analysis. BJOG: An International Journal of Obstetrics & Gynaecology 123, pages 12-22.
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I Uzun, R Has, E Alici, M Ozdemir, C Inan & S Erzincan. (2016) Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion. Balkan Journal of Medical Genetics 19:1, pages 103-106.
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Howard Cuckle, Eugene Pergament & Peter Benn. 2015. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 483 540 .
SW Li, AN Barrett, L Gole, WC Tan, A Biswas, HK Tan & M Choolani. (2015) The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort. Singapore Medical Journal 56:01, pages 47-52.
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Niels Tørring, Olav Bjørn Petersen & Niels Uldbjerg. (2015) Ten Years of Experience with First-Trimester Screening for Fetal Aneuploidy Employing Biochemistry from Gestational Weeks 6+0 to 13+6. Fetal Diagnosis and Therapy 37:1, pages 51-57.
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Pilar Prats, Ignacio Rodríguez, Carmina Comas & Bienvenido Puerto. (2014) Systematic review of screening for trisomy 21 in twin pregnancies in first trimester combining nuchal translucency and biochemical markers: a meta-analysis. Prenatal Diagnosis 34:11, pages 1077-1083.
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Carla Davis, Howard Cuckle & Yuval Yaron. (2014) Screening for Down syndrome - incidental diagnosis of other aneuploidies. Prenatal Diagnosis 34:11, pages 1044-1048.
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KW Choy, YK Kwok, YKY Cheng, KM Wong, HK Wong, KO Leung, KW Suen, K Adler, CC Wang, TK Lau, MJ Schermer, TT Lao & TY Leung. (2014) Diagnostic accuracy of the BACs-on-Beads ™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series . BJOG: An International Journal of Obstetrics & Gynaecology 121:10, pages 1245-1252.
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Meredith Vanstone, Carol King, Barbra de Vrijer & Jeff Nisker. (2014) Non-Invasive Prenatal Testing: Ethics and Policy Considerations. Journal of Obstetrics and Gynaecology Canada 36:6, pages 515-526.
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P. W. Chen, M. Chen, T. Y. Leung & T. K. Lau. (2012) Effect of image settings on nuchal translucency thickness measurement by a semi‐automated system. Ultrasound in Obstetrics & Gynecology 39:2, pages 169-174.
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Xuan-Hong Tomai, Jean-Pierre Schaaps & Jean-Michel Foidart. (2011) Fetal nuchal translucency thickness in different cut-off points for aneuploidy screening in the south of Vietnam. Journal of Obstetrics and Gynaecology Research 37:10, pages 1327-1334.
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T. Y. Leung, I. Vogel, T. K. Lau, W. Chong, J. A. Hyett, O. B. Petersen & K. W. Choy. (2011) Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype. Ultrasound in Obstetrics & Gynecology 38:3, pages 314-319.
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JAANA MARTTALA, JENNI K. RANTA, MARJA KAIJOMAA, PENTTI NIEMINEN, PAIVI LAITINEN, HANNALEENA KOKKONEN, JARKKO ROMPPANEN, ESA HAMALAINEN, JOHANNA KULTTI, AYDIN TEKAY, VELI-MATTI ULANDER, TIMPPA HONKASALO & MARKKU RYYNANEN. (2011) More invasive procedures are done to detect each case of Down's syndrome in younger women. Acta Obstetricia et Gynecologica Scandinavica 90:6, pages 642-647.
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Kypros H. Nicolaides. (2011) Screening for fetal aneuploidies at 11 to 13 weeks. Prenatal Diagnosis 31:1, pages 7-15.
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D. S. Sahota, T. Y. Leung, M. Chen, L. W. Chan, T. Y. Fung & T. K. Lau. (2010) Comparison of likelihood ratios of first-trimester nuchal translucency measurements: multiples of median, delta or mixture. Ultrasound in Obstetrics and Gynecology 36:1, pages 15-19.
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. (2010) Current World Literature. Current Opinion in Obstetrics & Gynecology 22:2, pages 166-175.
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D. S. Sahota, T. Y. Leung, L. W. Chan, L. W. Law, T. Y. Fung, M. Chen & T. K. Lau. (2010) Comparison of first-trimester contingent screening strategies for Down syndrome. Ultrasound in Obstetrics and Gynecology 35:3, pages 286-291.
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Jason C. H. Tsang & Y. M. Dennis Lo. 2010. Extracellular Nucleic Acids. Extracellular Nucleic Acids 147 166 .
Nancy B. Y. Tsui, Blenda C. K. Wong, Tak Y. Leung, Tze K. Lau, Rossa W. K. Chiu & Y. M. Dennis Lo. (2009) Non‐invasive prenatal detection of fetal trisomy 18 by RNA–SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study . Prenatal Diagnosis 29:11, pages 1031-1037.
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