Down syndrome || Updates on Specific Diseases

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Last Posted: Nov 11, 2017

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• New DNA antenatal screening for Down's syndrome shown to be a 'transformational advance'  
  Science Daily, Nov 8, 2017
• Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma.  
  Yang H et al. Genetics and molecular research : GMR 2015 Sep 14(3) 10603-8
• Women's Understanding and Attitudes towards Down Syndrome and Other Genetic Conditions in the Context of Prenatal Screening.  
  Long Sarah et al. Journal of genetic counseling 2017 Oct
• Introduction of non-invasive prenatal testing as a first-tier aneuploidy screening test: A survey among Dutch midwives about their role as counsellors. 
  Martin Linda et al. Midwifery 2017 Sep 561-8
• Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand.  
  Filoche Sara et al. BMC pregnancy and childbirth 2017 Oct 17(1) 344
• Down Syndrome Awareness Month
  NCBDDD, October 2, 2017
• Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing.  
  Qiang Rong et al. Experimental and therapeutic medicine 2017 May 13(5) 2304-2310
• Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?  
  Lewis Celine et al. Prenatal diagnosis 2017 Sep
• Obstetric professionals' perceptions of non-invasive prenatal testing for Down syndrome: clinical usefulness compared with existing tests and ethical implications.  
  Ngan Olivia Miu Yung et al. BMC pregnancy and childbirth 2017 Sep 17(1) 285
• Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome.  
  Kou K O et al. Hong Kong medical journal = Xianggang yi xue za zhi 2016 Jun 22(3) 223-30
• Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.  
  Dheedene Annelies et al. Prenatal diagnosis 2016 Aug 36(8) 699-707
• No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies.  
  Chitayat David et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) e380-e394
• No. 262-Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies.  
  Audibert François et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) e347-e361
• Can We Improve Risk Communication about Non-Invasive Prenatal Testing?  
  Petrova Dafina et al. BJOG : an international journal of obstetrics and gynaecology 2017 Aug
• Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992.  
  Roberts H E et al. American journal of medical genetics 1997 Jul 71(1) 29-32
• Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.  
  Rudolf Gorazd et al. PloS one 2017 12(6) e0180348

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