Prenatal testing UPDATE || Public Health Genomics Knowledge Base (v1.0) || July 7-14, 2016

Public Health Genomics Knowledge Base (v1.0)



July 7-14, 2016 


Last Updated: Jul 07, 2016

• Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.
  Hercher Laura et al. Journal of genetic counseling 2016 Jul
• Validation of combinatorial probe-anchor ligation (cPAL) based sequencing method for non-invasive prenatal testing in trisomy detection by a central laboratory.
  Ma Jingmei et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Jul
• Background of couples undergoing non-invasive prenatal testing in Japan.
  Takeda Eri et al. The journal of obstetrics and gynaecology research 2016 Jun
• Prenatal testing in Huntington disease: after the test, choices recommence.
  Bouchghoul Hanane et al. European journal of human genetics : EJHG 2016 Jun
• Second-generation non-invasive high-throughput DNA sequencing technology in the screening of Down's syndrome in advanced maternal age women.
  Zhang Jiao et al. Biomedical reports 2016 Jun 4(6) 715-718
• The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.
  van der Steen S L et al. Journal of genetic counseling 2016 May
• Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
  Gerundino Francesca 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 May 1-7
• Balancing Genetics (Science) and Counseling (Art) in Prenatal Chromosomal Microarray Testing.
  Werner-Lin Allison et al. Journal of genetic counseling 2016 May
• Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome.
  Barter Barbara et al. Journal of applied research in intellectual disabilities : JARID 2016 May
• Non Invasive Prenatal Screening or Advanced Diagnostic Testing: Caveat Emptor.
  Evans Mark I et al. American journal of obstetrics and gynecology 2016 Apr
• Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy.
  Kohn Taylor P et al. Journal of assisted reproduction and genetics 2016 Mar
• Canadian women's attitudes toward noninvasive prenatal testing of fetal DNA in maternal plasma.
  Pariente Gali 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 Mar 1-7
• Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update.
  Benn Peter et al. Current opinion in obstetrics & gynecology 2016 Apr 28(2) 119-24
• Novel Epigenetic Markers on Chromosome 21 for Noninvasive Prenatal Testing of Fetal Trisomy 21.
  Lee Da Eun et al. The Journal of molecular diagnostics : JMD 2016 Mar
• Clinical Validation of a Non-Invasive Prenatal Test for Genome-Wide Detection of Fetal Copy Number Variants.
  Lefkowitz Roy B et al. American journal of obstetrics and gynecology 2016 Feb

• Human (17)
• Pathogen (0)

• Human (13)
• Pathogen (0)

• Human (72)
• Pathogen (0)

• Guidelines (6)
• Tier Table (0)
• Synthesis (11)

• Implementation (2)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB