Why we don’t know what causes most birth defects

https://phgkb.cdc.gov/GAPPKB/phgHome.do


Last Posted: Jun 11, 2017

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• Why we don’t know what causes most birth defects  
  The Conversation, June 2017
• CDC analysis of data from US territories finds serious birth defects in about 1 in 12 fetuses or infants of pregnant women with Zika infection in the first trimester
  CDC, June 7, 2017
• Advancing Treatment and Care for Fragile X Syndrome 
• Barriers to Genetic Testing for Pediatric Medicaid Beneficiaries With Epilepsy.  
  Kutscher Eric J et al. Pediatric neurology 2017 Apr
• The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.  
  Khan Muzammil Ahmad et al. Annals of human genetics 2016 Nov 80(6) 342-368
• Why study rare genetic conditions?  
  N Rahman, TGMI blog post, June 2, 2017
• "It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier.  
  von der Lippe Charlotte et al. Journal of genetic counseling 2017 May
• Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities.  
  Norton Mary E et al. American journal of obstetrics and gynecology 2016 Jun 214(6) 727.e1-6
• Clinical utility gene card for: Tangier disease.  
  Hooper Amanda J et al. European journal of human genetics : EJHG 2017 May
• Do the data really support ordering fragile X testing as a first-tier test without clinical features?  
  Weinstein Veronique et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May
• Evolving locally appropriate models of care for indian sickle cell disease.  
  Serjeant Graham R et al. The Indian journal of medical research 2016 Apr 143(4) 405-13
• Factors predicting persistence of early wheezing through childhood and adolescence: a systematic review of the literature.  
  Rodríguez-Martínez Carlos E et al. Journal of asthma and allergy 2017 1083-98
• Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome.  
  Reines Victoria et al. Journal of genetic counseling 2017 May
• Psychological impact of a genetic diagnosis on hearing impairment - an exploratory study.  
  Oonk A M M et al. Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2017 May
• Summary of Pediatrics Supplement 
• Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil.  
  Servidoni Maria Fátima et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 43(2) 121-128

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