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

Clinical Director of the Molecular Genetics Laboratory, McGill University

Other appointments 

Canadian College of Medical Geneticists, Board of Directors



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 

K. Wou K, I. De Bie, J. Carroll, J.A. Brock, WR. Douglas. Fetal Exome Sequencing on the Horizon. J. Obstet Gynaecol Can. (2019) 41:64-67

C. Fallet-Bianco, I. De Bie, V. Desilets, LL. Oligny. Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities with Normal Chromosome Analysis. J. Obstet. Gynaecol. Can. (2018) 40:1358-1366

A. Langlois, B. Torabi, M. Dembele, M. Desjardins, R. Alizadehfar, M. Ben-Shoshan, I. De Bie, A. Sant'Anna, CT. McCusker, BD. Mazer. Gastrointestinal Defects and Immunodeficiency Syndrome with Normal in vivo IgG Production In Vitro. LymphoSign J. (2018) 5:91-9

V. Désilets, I. De Bie, F. Audibert. SOGC Clinical Practice Guideline:  Investigation and Management of Non-immune Fetal Hydrops. J. Obstet. Gynaecol. Can. (2018) S1701-2163(18)30527-30529

A. Saskin, A. Alfares, C. Bernard, M. Blumenkrantz, N. Braverman, I. Gupta, KB. Brosnihan, C. Antignac, MC. Gubler,V. Morinière, I. De Bie, M. Bitzan. Renal tubular dysgenesis and microcolon, a novel association. Report of three cases. Eur. J. Med Genet. (2018) Eur. J. Med. Genet. (2018) S1769‑7212(18)30120-30124

S. Basalom, Y Trakadis, R Shear, ME. Azouz, I. De Bie. Dyssegmental Dysplasia, Silverman-Handmaker Type: A Challenging Antenatal Diagnosis in a Dizygotic Twin Pregnancy. Mol. Genet. Genomic. Med. (2018) 6:452-456

CM. Armour, SD. Dougan, JA. Brock, R. Chari, BN. Chodirker, I. De Bie, et al. Practice Guideline:  Joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada. J. Med. Genet. (2018) 55:215-221

F. Audibert, I. De Bie, JA. Johnson, N. Okun, Wilson RD. Joint SOGC– CCMG Committee Opinion: Update on Pregnancy Genetic Screening for Fetal Aneuploidy, Fetal Congenital Anomalies and Adverse Pregnancy Outcomes. J. Obstet. Gynaecol. Can. (2017) 39:805–817

K. Platzer et al., GRIN2B encephalopathy – novel phenotypic, genetic and functional aspects. J. Med Genet. (2017) 54:460-470

RD. Wilson, I. De Bie. Joint SOGC– CCMG Committee Opinion: Reproductive Genetic Carrier Screening: An update for all Canadian providers of maternity and reproductive healthcare in the era of Direct-To-Consumer testing. J. Obstet. Gynaecol. Can. (2016) 38:742-762