Down syndrome ► Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)

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Publication	Product Type
Factors associated with utilization of maternal serum screening for Down syndrome in mainland China: a cross-sectional study. Li Chuanlin, et al. BMC health services research 2016 0 0. (1) 8	Original Studies [A]
First trimester screening cut-offs for noninvasive prenatal testing as a contingent screen: Balancing detection and screen-positive rates for trisomy 21. Maxwell Susannah, et al. The Australian & New Zealand journal of obstetrics & gynaecology 2016 1 0.	Original Studies [A]
CELL FREE DNA TESTING AFTER COMBINED TEST: FACTORS AFFECTING THE UPTAKE. Maiz Nerea, et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 1 0. 1-16	Original Studies [A]
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. Hill Melissa, et al. European journal of human genetics : EJHG 2015 11 0.	Original Studies [A]
Genetic testing of etiology of intellectual disability in a dedicated physical healthcare outpatient clinic for adults with intellectual disability. Wallace R A, et al. Internal medicine journal 2015 11 0.	Original Studies [A]
Non-invasive prenatal screening for trisomy 21: Consumers' perspectives. Higuchi Emily C, et al. American journal of medical genetics. Part A 2015 11 0.	Original Studies [A]
Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013. Maxwell Susannah, et al. Prenatal diagnosis 2015 9 0.	Original Studies [A]
Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study. Hayeems Robin Z, et al. CMAJ Open 0 0 0. (2) E236-43	Original Studies [A]
Informed choice about Down syndrome screening - Effect of an eHealth tool: A randomized controlled trial. Skjøth Mette Maria, et al. Acta Obstet Gynecol Scand 2015 8 31.	Original Studies [A]
Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection. Wax Joseph R, et al. J Clin Ultrasound 2015 1 0. (1) 1-6	Original Studies [A]
National down syndrome patient database: Insights from the development of a multi-center registry study. Lavigne Jenifer, et al. Am. J. Med. Genet. A 2015 8 6.	Original Studies [A]
Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome. Viuff Mette Hansen, et al. Hum. Reprod. 2015 8 6.	Original Studies [A]
Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience. Zhou Qiyin, et al. Prenat. Diagn. 2014 11 0. (11) 1061-5	Original Studies [A]
Neonatal diagnosis of Down syndrome in The Netherlands: suspicion and communication with parents. de Groot-van der Mooren M D, et al. J Intellect Disabil Res 2014 10 0. (10) 953-61	Original Studies [A]
Predictive performance of a seven-plex antibody array in prenatal screening for down syndrome. Pennings Jeroen L A, et al. Dis. Markers 2015 0 0. 519851	Original Studies [A]
Noninvasive prenatal testing for fetal trisomy in a mixed risk factors pregnancy population. Li Wai-Hou, et al. Taiwan J Obstet Gynecol 2015 4 0. (2) 122-5	Original Studies [A]
Non-Invasive Prenatal Screening for Aneuploidy: Positive Predictive Values Based on Cytogenetic Findings. Meck Jeanne M, et al. Am. J. Obstet. Gynecol. 2015 4 3.	Original Studies [A]
Cell-free DNA Analysis for Noninvasive Examination of Trisomy. Norton Mary E, et al. N. Engl. J. Med. 2015 4 1.	Original Studies [A]
Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center. Manegold-Brauer Gwendolin, et al. Arch. Gynecol. Obstet. 2015 2 26.	Original Studies [A]
A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders. Goodwin J, et al. Journal of intellectual disability research : JIDR 2014 7	Original Studies [A]
Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting. Comas C, et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2014 8	Original Studies [A]
The first 3,000 Non-Invasive Prenatal Tests?(NIPT) with the Harmony test in Belgium and the Netherlands. Willems PJ, et al. Facts, views & vision in ObGyn 2014 7 (1) 1	Original Studies [A]
Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Pergament E, et al. Obstetrics and gynecology 2014 8 (2 Pt 1) 2 Pt 1	Original Studies [A]
Mothers' Experiences of Genetic Counselling in Johannesburg, South Africa. Morris M, et al. Journal of genetic counseling 2014 8	Original Studies [A]
Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Wang JC, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2014 8	Original Studies [A]
Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Dar P, et al. American journal of obstetrics and gynecology 2014 11 (5) 5	Original Studies [A]
From policy making to service use. Down's syndrome antenatal screening in England, France and the Netherlands. Vassy C, et al. Social science & medicine (1982) 2014 4	Original Studies [A]
Non-invasive prenatal testing for trisomy 21: a cross-sectional survey of service users' views and likely uptake. Lewis C, et al. BJOG : an international journal of obstetrics and gynaecology 2014 4 (5) 5	Original Studies [A]
From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan. Shaw SW, et al. Taiwanese journal of obstetrics & gynecology 2013 12 (4) 4	Original Studies [A]
Evaluation of the introduction of the national Down syndrome screening program in the Netherlands: age-related uptake of prenatal screening and invasive diagnostic testing. Engels MA, et al. European journal of obstetrics, gynecology, and reproductive biology 2014 3	Original Studies [A]
Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis. Hill M, et al. Journal of genetic counseling 2014 12 (6) 6	Original Studies [A]
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Porreco RP, et al. American journal of obstetrics and gynecology 2014 10 (4) 4	Original Studies [A]
DNA sequencing versus standard prenatal aneuploidy screening. Bianchi DW, et al. The New England journal of medicine 2014 2 (9) 9	Original Studies [A]
Screening for down syndrome in the United States: results of surveys in 2011 and 2012. Palomaki GE, et al. Archives of pathology & laboratory medicine 2013 7 (7) 7	Original Studies [A]
Development of noninvasive prenatal diagnosis of trisomy 21 by RT-MLPA with a new set of SNP markers. Li PQ, et al. Archives of gynecology and obstetrics 2014 1 (1) 1	Original Studies [A]
Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study. Qi QW, et al. Chinese medical journal 2013 6 (11) 11	Original Studies [A]
First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Nicolaides KH, et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2013 7 (1) 1	Original Studies [A]
New contingent sequential screening model for Down syndrome based on the combined test associated with modified genetic sonography. Bueno JA, et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2013 12 (18) 18	Original Studies [A]
Efficacy of the genetic sonogram in a stepwise sequential protocol for down syndrome screening. Shamshirsaz AA, et al. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2013 9 (9) 9	Original Studies [A]
Non-invasive prenatal testing for Down's syndrome: pregnant women's views and likely uptake. Lewis C, et al. Public health genomics 2013 10 (5) 5	Original Studies [A]
Chromosomal microarray versus karyotyping for prenatal diagnosis. Wapner RJ, et al. The New England journal of medicine 2012 12 (23) 23	Original Studies [A]
An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. Gruber TA, et al. Cancer cell 2012 11 (5) 5	Original Studies [A]
Noninvasive prenatal testing for whole fetal chromosomal aneuploidies: a multicenter prospective cohort trial in Taiwan. Shaw SW, et al. Fetal diagnosis and therapy 2014 2 (1) 1	Original Studies [A]
Patient's choice between a non-invasive prenatal test and invasive prenatal diagnosis based on test accuracy. Chan YM, et al. Fetal diagnosis and therapy 2014 6 (3) 3	Original Studies [A]
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Nicolaides KH, et al. American journal of obstetrics and gynecology 2012 11 (5) 5	Original Studies [A]
Women's and health professionals' preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Hill M, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2012 11 (11) 11	Original Studies [A]
Noninvasive prenatal diagnosis of Down syndrome in samples from Southwest Chinese gravidas using pregnant plasma placental RNA allelic ratio. Zhang Y, et al. Genetic testing and molecular biomarkers 2012 9 (9) 9	Original Studies [A]
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Norton ME, et al. American journal of obstetrics and gynecology 2012 8 (2) 2	Original Studies [A]
The views of Pakistani doctors regarding genetic counseling services - is there a future? Ashfaq M, et al. Journal of genetic counseling 2013 12 (6) 6	Original Studies [A]
Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. Song K, et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2013 8 (12) 12