• McFadden, Deborah E.


    Investigator, BC Children's Hospital
    Pathologist, Department of Pathology, BC Children's Hospital and BC Women's Hospital & Health Centre
    Clinical Professor, Department of Pathology, University of British Columbia

    Degrees / Designations
    BA, MD
    Primary Area of Research
    Healthy Starts
    Secondary Area(s) of Research
    Lab Phone
    Mailing Address

    BC Children's Hospital and BC Women's Hospital & Health Centre
    Department of Pathology
    Room L216
    4480 Oak Street
    Vancouver, BC V6R 3A1

    Affiliate Websites
    Research Areas
    • Triploidy
    • Fetal growth and development
    • Early pregnancy loss

    Normal fetal growth and development is a complex process with many points at which abnormality may occur. Triploidy and other chromosome abnormalities occur frequently in early pregnancy. Study of triploidy affords insights into the normal processes involved in successful pregnancy and ways in which those processes may be affected by chromosome abnormality. Study of triploid pregnancies yields information on intrauterine growth retardation, imprinting processes in placenta, function of the placenta and its component parts, and reasons for pregnancy losses.

    Current Projects
    • To diagnose the underlying defect in miscarriages that have a cytogenetically normal karyotype, and to compare genetic abnormalities in pregnancies conceived naturally with those conceived by IVF.

    • To study X inactivation in early triploid pregnancy losses and to assess correlation of parental origin of triploidy and embryonic/placental phenotype in early pregnancy losses.

    Selected Publications

    Niessen K, Fu YX, Chang L, Wong F, Hoodless P, McFadden D, and Karsan A.: Slug is a direct Notch target required for initiation of cardiac cushion cellularization. J Cell Biol. 2008 Jul;182(2):315-25.

    Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS.: Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. Am J Med Genet A. 2008 May 15;146A(10):1299-306.

    Hamalainen RH, Avela K, Lambert J, Kallijarvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki A-E (2004) Novel mutations in the TRIM37 gene in mulibrey nanism. Human Mutation 23(5):522-27.

    Shapiro E, Huang H, McFadden DE , Masch RJ, Ng E, Lepor H, Wu XR (2004) The prostatic utricle is not a mullerian duct remnant: Immunohistochemcial evidence for a distinct urogenital sinus origin. Ju Urol 172(4, Part 2):1753-1756.

    Robinson WP, McFadden DE ,Barrett IJ, Kuchinka B, Peñaherrera S, Bruyère H, Best RG, Pedreira DAL, Langlois S, Kalousek DK (2002) Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism. Prenat Diagn 22(12):1076-85. 

    McFadden DE, Jiang R, Langlois S, Robinson WP (2002) Dispermy - origin of diandric triploidy. Hum Reprod 17(12):3037-8.

    McFadden DE, Hulait G, Lockitch G, Langlois S (2002) Maternal serum screening in triploidy. Prenat Diagn 22(12):1113-1114.

    Robinson WP, McFadden DE, Stephenson MD (2001) The origin of abnormalities in recurrent aneuploidy/polyploidy Am J Hum Genet 69:1245-1254.

    Rajcan-Separovic E, Robinson W, Stephenson M, Pantzar T, Arbour L, McFadden D, Guscott J (2001) Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13). Am J Med Genet 99:320-4.

    McFadden DE , Langlois S (2000) Parental and meiotic origin of triploidy in the fetal and embryonic periods. Clin Genet 3: 192-200.

    McFadden DE , Pantzar JT, Jevon GP (2000) Gonadal pathology in triploidy. Ped Path Dev Pathol 3:548-555.

    Robinson WP, Bernasconi F, Lau A, McFadden DE (1999) Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. Am J Med Genet 84:34-42.

    McFadden DE , Kwong LC, Yam, IYL, Langlois S (1993) Parental origin of triploidy in human fetuses - evidence for genomic imprinting. Human Genetics 92:465-469.

    Honours & Awards
    Research Group Members