Obstetrics, gynecology and reproductive medicine guidelines

Prenatal screening and diagnosis

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Prenatal screening and diagnosis

Canada

• National Guideline Clearinghouse
  • Prenatal screening for fetal aneuploidy in singleton pregnancies. Society of Obstetricians and Gynaecologists of Canada [2011]
  • Prenatal screening for and diagnosis of aneuploidy in twin pregnancies. Society of Obstetricians and Gynaecologists of Canada [2011]
  • Evaluation of prenatally diagnosed structural congenital anomalies. Society of Obstetricians and Gynaecologists of Canada [2009]

• Perinatal Services BC
  • Prenatal Screening on Down Syndrome, Trisomy 18, and Open Neural Tube Defects [2011]

• Society of Obstetricians and Gynaecologists of Canada
  • Counselling considerations for prenatal genetic screening [2012]
  • Prenatal screening for fetal aneuploidy in singleton pregnancies [2011]
  • Evaluation of prenatally diagnosed structural congenital anomalies [2009]
  • Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent [2006]
  • Genomics: New Technology for Obstetrics and Gynaecology [2005]

Europe

• European Commission - Public Health
  • Ethical, legal and social aspects of genetic testing: research, development and clinical applications [2004]

Germany

• Nationaler Ethikrat
  • Genetic diagnosis before and during pregnancy [2003]

India

• Indian Journal of Medical Research
  • Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India [2011]

International

• Cochrane Library
  • Symphysis-fundal height measurement in pregnancy
  • Fetal movement counting for assessment of fetal wellbeing

Italy

• Società Italiana di Genetica Umana
  • Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU) [2012]

Singapore

• Bioethics Advisory Committee
  • Prenatal Genetic Screening and Testing [2005]

South Africa

• Maternal Care Manual - Perinatal Education Programme
  • Assessment of fetal growth and condition during pregnancy [2006]

Sweden

• Swedish Council on Technology Assessment in Health Care
  • Methods of Early Prenatal Diagnosis [2006]

United Kingdom

• Human Genetics Commission
  • Making Babies: reproductive decisions and genetic technologies [2006]
  • Choosing the future: analysis of responses [2005]

• National Guideline Clearinghouse
  • Reduced fetal movements. Royal College of Obstetricians and Gynaecologists [2011]

• National Institute for Health and Clinical Excellence
  • Fetal cystoscopy for diagnosis and treatment of lower urinary outflow tract obstruction [2007]

• Royal College of Obstetricians and Gynaecologists
  • Radiology before pregnancy confirmed - query bank [2012]
  • Reduced Fetal Movements [2011]
  • Prenatal diagnosis of ichthyosis - query bank [2011]

• Royal College of Radiologists
  • Protection of Pregnant Patients during Diagnostic Medical Exposures to Ionising Radiation [2009]
  • Pregnancy and Work in Diagnostic Imaging Departments, Second edition [2009]

United States of America

• American College of Medical Genetics and Genomics
  • Technical Standards and Guidelines for Reproductive Screening in the Ashkenazi Jewish Population [2008]
  • Technical Standards and Guidelines for Huntington Disease Testing [2004]
  • American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy [2001]

• American College of Radiology
  • ACR–SPR Practice Guideline for the Safe and Optimal Performance of Fetal Magnetic Resonance Imaging (MRI) [2010]

• National Guideline Clearinghouse
  • ACR–SPR practice guideline for the safe and optimal performance of fetal magnetic resonance imaging (MRI) [2010]
  • Screening for fetal chromosomal abnormalities. American College of Obstetricians and Gynecologists [2007]

WHO

• WHO Reproductive Health Library
  • Routine symphysis-fundal height measurement during pregnancy [2003]

• World Health Organization
  • Community genetics services : report of a WHO consultation on community genetics in low- and middle-income countries [2011]

Articles in journals

• American Family Physician
  • Fetal Chromosomal Abnormalities: Antenatal Screening and Diagnosis [2009]

• Australian Family Physician
  • Antenatal screening – the first and second trimester [2011]

• British Medical Journal
  • The parents' journey: continuing a pregnancy after a diagnosis of Patau's syndrome [2005]
  • In utero magnetic resonance imaging for brain and spinal abnormalities in fetuses [2005]
  • Congenital anomaly surveillance in England--ascertainment deficiencies in the national system [2005]
  • Recent developments in fetal medicine [2004]

• Canadian Family Physician
  • Prenatal genetic counseling in cross-cultural medicine: A framework for family physicians [2010]
  • Genetic screening: A primer for primary care [2010]

• Canadian Medical Association Journal
  • Wrongful birth litigation and prenatal screening [2008]
  • Congenital abdominal wall defects [2003]

• Clinical Chemistry
  • Fetal Laboratory Medicine: On the Frontier of Maternal–Fetal Medicine [2012]

• Clinics in Laboratory Medicine
  • Adverse Pregnancy Outcomes after Abnormal First Trimester Screening for Aneuploidy [2010]

• Clinics in Perinatology
  • Fetal Neurological Assessment Using Noninvasive Magnetoencephalography [2009]

• Deutsches Ärzteblatt International
  • The Prenatal Diagnosis of Genetic Diseases [2010]

• Expert Reviews
  • Proteomics in prenatal diagnosis [2009]

• Fertility and Sterility
  • Transcervical retrieval of fetal cells in the practice of modern medicine: a review of the current literature and future direction [2010]

• Indian Pediatrics
  • Carrier Detection and Prenatal Diagnosis in Duchenne/Becker Muscular Dystrophy [2001]

• Journal of Histochemistry and Cytochemistry
  • First-trimester Screening: An Overview [2005]

• Journal of Neuroradiology
  • Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature [2009]

• Journal of Obstetrics and Gynaecology Canada (JOGC)
  • Diagnosing Chromosomal Abnormalities From "Big" to "Small" With Molecular Cytogenetic Technology [2009]
  • Prenatal Choices for Canadian Women: Individual Choice or the Public Good? [2008]
  • Maternal Decisions Regarding Prenatal Diagnosis: Rational Choices or Sensible Decisions? [2007]

• Malaysian Family Physicians
  • An older woman in early pregnancy: what antenatal screening is appropriate [2008]

• NeuroRx
  • Huntington’s Disease Genetics [2004]

• New England Journal of Medicine
  • Genomics and Perinatal Care [2012]

• Prenatal Diagnosis
  • MR imaging of the fetal musculoskeletal system [2012]

• RadioGraphics
  • Congenital Chest Malformations: A Multimodality Approach with Emphasis on Fetal MR Imaging [2010]

• Ultrasound in Obstetrics & Gynecology
  • Effectiveness of fetal cystoscopy as a diagnostic and therapeutic intervention for lower urinary tract obstruction: a systematic review [2011]
  • Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis [2011]

{Related topics}

• Guidelines
  • Prenatal ultrasound
  • Preimplantation diagnosis
  • Obstetrics, perinatology
  • Neonatal screening
  • Maternal blood screening
  • Fragile X syndrome: prenatal screening and diagnosis
  • Ethics, jurisprudence: obstetrics, gynecology
  • Down syndrome: prenatal screening and diagnosis
  • Cystic fibrosis: prenatal screening and diagnosis
  • Amniocentesis, chorionic villi sampling