1. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

    The American Journal of Human Genetics 99(2):511 (2016) PMID 27453579 PMCID PMC4974106

    Primary microcephaly is a neurodevelopmental disorder that is caused by a reduction in brain size as a result of defects in the proliferation of neural progenitor cells during development. Mutations in genes encoding proteins that localize to the mitotic spindle and centrosomes have been implica...
  2. Comparison of diagnostic performance for perinatal and paediatric post-mortem imaging: CT versus MRI.

    European Radiology 26(7):2327 (2016) PMID 26489748

    To compare the diagnostic yield of whole-body post-mortem computed tomography (PMCT) imaging to post-mortem magnetic resonance (PMMR) imaging in a prospective study of fetuses and children. We compared PMCT and PMMR to conventional autopsy as the gold standard for the detection of (a) major path...
  3. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals.

    European Journal of Human Genetics 24(7):968 (2016) PMID 26577044

    Non-invasive prenatal testing is increasingly available worldwide and stakeholder viewpoints are essential to guide implementation. Here we compare the preferences of women and health professionals from nine different countries towards attributes of non-invasive and invasive prenatal tests for D...
  4. The 2015 Malcolm Ferguson-Smith Young Investigator Award.

    Prenatal Diagnosis 36(7):599 (2016) PMID 27381265

  5. Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.

    Prenatal Diagnosis 36(7):636 (2016) PMID 27107169

    Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice. Total costs of diagnosis using NIPD or invasive testing pathways were compared for a representative set o...
  6. Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy.

    European Journal of Human Genetics 24(6):809 (2016) PMID 26508572 PMCID PMC4867447

    Non-invasive prenatal testing (NIPT) using cell-free DNA for aneuploidy is a highly accurate screening test; however, concerns exist around the potential for routinisation of testing. The multidimensional measure of informed choice (MMIC) is a quantitative instrument developed to assess informed...
  7. Inositol for prevention of neural tube defects: a pilot randomised controlled trial - CORRIGENDUM.

    British Journal of Nutrition 115(9):1697 (2016) PMID 26917444

  8. Stakeholder attitudes and needs regarding cell-free fetal DNA testing.

    Current Opinion in Obstetrics & Gynecology 28(2):125 (2016) PMID 26866843

    To explore stakeholder views on cell-free DNA testing and highlight findings important for successful implementation and the provision of best practice in counseling. Noninvasive tests based on the analysis of cell-free fetal DNA are now widely available in clinical practice and applications are...
  9. Inositol for the prevention of neural tube defects: a pilot randomised controlled trial.

    British Journal of Nutrition 115(6):974 (2016) PMID 26847388 PMCID PMC4825100

    Although peri-conceptional folic acid (FA) supplementation can prevent a proportion of neural tube defects (NTD), there is increasing evidence that many NTD are FA non-responsive. The vitamin-like molecule inositol may offer a novel approach to preventing FA-non-responsive NTD. Inositol prevente...
  10. Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.

    The American Journal of Human Genetics 98(1):34 (2016) PMID 26708752 PMCID PMC4716686

    The use of massively parallel sequencing of maternal cfDNA for non-invasive prenatal testing (NIPT) of aneuploidy is widely available. Recently, the scope of testing has increased to include selected subchromosomal abnormalities, but the number of samples reported has been small. We developed a ...
  11. Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units.

    British Medical Journal (Abstracts) 354:i3426 (2016) PMID 27378786 PMCID PMC4933930

     To investigate the benefits and costs of implementing non-invasive prenatal testing (NIPT) for Down's syndrome into the NHS maternity care pathway.  Prospective cohort study.  Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015.  All pregnant women with ...
  12. In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2015.

    Prenatal Diagnosis 36(1):3 (2016) PMID 26777520

  13. Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

    Prenatal Diagnosis 36(1):15 (2016) PMID 26525746

  14. Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.

    PLoS ONE 11(4):e0153147 (2016) PMID 27045195 PMCID PMC4821600

    Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK National Health Service we conducted a mixed methods study to assess women's experience of being offere...
  15. Non-invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers.

    Prenatal Diagnosis 35(12):1167 (2015) PMID 26266986

    The development of non-invasive prenatal testing has increased accessibility of fetal testing. Companies are now advertising prenatal testing for aneuploidy via the Internet. The aim of this systematic review of websites advertising non-invasive prenatal testing for aneuploidy was to explore the...
  16. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    European Journal of Human Genetics 23(11):1438 (2015) PMID 25782669 PMCID PMC4613463

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT h...
  17. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    European Journal of Human Genetics 23(11):1592 (2015) PMID 26468681 PMCID PMC4613480

  18. Will the introduction of non-invasive prenatal testing for Down's syndrome undermine informed choice?

    Health Expectations 18(5):1658 (2015) PMID 26039796

    To investigate whether the introduction of non-invasive pre-natal testing for Down's syndrome (DS) has the potential to undermine informed choice. Three hundred and ninety-three health professionals; 523 pregnant women. A cross-sectional questionnaire study across nine maternity units and three ...
  19. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

    Prenatal Diagnosis 35(10):950 (2015) PMID 25708280

    We aim to develop non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation. A next-generation sequencing assay was developed to detect ten common CF mutations for exclusion of the paternal mutation in maternal plasma. Using uptake da...
  20. Next generation sequencing and the next generation: how genomics is revolutionizing reproduction.

    Prenatal Diagnosis 35(10):929 (2015) PMID 26443108