Isabelle De Bie, MD, PhD, FRCPC, FCCMG Medical Geneticist and Clinical Molecular Geneticist

Medical Genetics
Fun fact about me 

I enjoy flying kites.

I love working with children and their families because 
They teach me so much.

Hospital information

Academic appointments 

Director, Prenatal Diagnosis Program, Department of Medical Genetics, McGill University

Associate Director of the Molecular Genetics Laboratory, McGill University

Other appointments 

Canadian College of Medical Geneticists Member, Training Committee Member, Clinical Practice Committee



BSc Biochemistry

 PhD, Experimental Medicine, McGill University

Medical Degree 

Université de Laval


Specialty training, Medical Genetics


Molecular Genetics, Canadian College of Medical Geneticist (CCMG)


Selected publications 

De Bie, R. Agatep, P. Scott, A. F. Ruchon. Report on the p.Ser489X CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian Cystic fibrosis patient population. Genet. Med. In press

CCMG and SOGC Joint Clinical Practice Guideline: Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada. J. Obstet. Gynaecol. Can. (2011) 33:1256–1259.

CCMG and SOGC Joint Clinical Practice Guideline: Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies. J. Obstet. Gynaecol. Can. (2011) 33:955–960.

CCMG and SOGC Joint Clinical Practice Guideline: Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies. J. Obstet. Gynaecol. Can. (2011) 33:736–750.

I. De Bie, E. Lemyre, M. Lambert. Favorable long-term outcome following severe neonatal hyperammonaemic coma in a patient with ASS deficiency. JIMD Reports. (2011) 1:83-88. ML.

Bellido, R. Radpour, O. Lapaire, I. De Bie, I. Hösli, J. Bitzer, A. Hmadcha, XY. Zhong, W. Holzgreve. MALDI-TOF Mass Array Analysis of RASSF1A and Maspin Methylation Patterns in Placenta and Plasma. Biol. Reprod. (2010) 82:745-750.

I. De Bie, S. Nizard, G. Mitchell. Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat. Diagn. (2009) 29:266-270.