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.


Pervasive polymorphic imprinted methylation in the human placenta.
Hanna CW, Peñaherrera MS, Saadeh H, Andrews S, McFadden DE, Kelsey G, Robinson WP
DOI: 10.1101/gr.196139.115
PubMed: 26769960

Profiling placental and fetal DNA methylation in human neural tube defects.
Price EM, Peñaherrera MS, Portales-Casamar E, Pavlidis P, Van Allen MI, McFadden DE, Robinson WP
DOI: 10.1186/s13072-016-0054-8
PubMed: 26889207

Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.
Filges I, Manokhina I, Peñaherrera MS, McFadden DE, Louie K, Nosova E, Friedman JM, Robinson WP
DOI: 10.1093/molehr/gau112
PubMed: 25504873

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain.
Lehman AM, Cowan JR, McFadden DE, Patel MS
DOI: 10.1002/ajmg.a.36529
PubMed: 24700809

Overlapping DNA methylation profile between placentas with trisomy 16 and early-onset preeclampsia.
Blair JD, Langlois S, McFadden DE, Robinson WP
DOI: 10.1016/j.placenta.2014.01.001
PubMed: 24462402

Chorioamnionitis in the pathogenesis of brain injury in preterm infants.
Chau V, McFadden DE, Poskitt KJ, Miller SP
DOI: 10.1016/j.clp.2013.10.009
PubMed: 24524448

Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia.
Blair JD, Yuen RK, Lim BK, McFadden DE, von Dadelszen P, Robinson WP
DOI: 10.1093/molehr/gat044
PubMed: 23770704

Prenatal and postnatal inflammation in relation to cortisol levels in preterm infants at 18 months corrected age.
Gover A, Chau V, Miller SP, Brant R, McFadden DE, Poskitt KJ, Synnes A, Weinberg J, Grunau RE
DOI: 10.1038/jp.2013.24
PubMed: 23558431

Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.
Manokhina I, Hanna CW, Stephenson MD, McFadden DE, Robinson WP
DOI: 10.1093/molehr/gat019
PubMed: 23515668

Early onset pre-eclampsia is associated with altered DNA methylation of cortisol-signalling and steroidogenic genes in the placenta.
Hogg K, Blair JD, McFadden DE, von Dadelszen P, Robinson WP
DOI: 10.1371/journal.pone.0062969
PubMed: 23667551

Protein kinase profiling in miscarriage: implications for the pathogenesis of trisomic pregnancy.
Yong PJ, McFadden DE, Robinson WP
PubMed: 23231796

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations.
Sinclair GB, Collins S, Popescu O, McFadden D, Arbour L, Vallance HD
DOI: 10.1542/peds.2011-2924
PubMed: 23090344

Different measures of "genome-wide" DNA methylation exhibit unique properties in placental and somatic tissues.
Price EM, Cotton AM, Peñaherrera MS, McFadden DE, Kobor MS, Robinson W
DOI: 10.4161/epi.20221
PubMed: 22531475

Early inflammation in the absence of overt infection in preterm neonates exposed to intensive care.
Chang BA, Huang Q, Quan J, Chau V, Ladd M, Kwan E, McFadden DE, Lacaze-Masmonteil T, Miller SP, Lavoie PM
DOI: 10.1016/j.cyto.2011.08.028
PubMed: 21940177

Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation.
Cotton AM, Lam L, Affleck JG, Wilson IM, Peñaherrera MS, McFadden DE, Kobor MS, Lam WL, Robinson WP, Brown CJ
DOI: 10.1007/s00439-011-1007-8
PubMed: 21597963

Developmental origin of chorionic villus cultures from spontaneous abortion and chorionic villus sampling.
Yong PJ, McFadden DE, Robinson WP
PubMed: 21639964

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders.
Bourque DK, Peñaherrera MS, Yuen RK, Van Allen MI, McFadden DE, Robinson WP
DOI: 10.1111/j.1399-0004.2010.01443.x
PubMed: 20507345

Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies.
Yuen RK, Jiang R, Peñaherrera MS, McFadden DE, Robinson WP
DOI: 10.1186/1756-8935-4-10
PubMed: 21749726

Extensive epigenetic reprogramming in human somatic tissues between fetus and adult.
Yuen RK, Neumann SM, Fok AK, Peñaherrera MS, McFadden DE, Robinson WP, Kobor MS
DOI: 10.1186/1756-8935-4-7
PubMed: 21545704

DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia.
Yuen RK, Peñaherrera MS, von Dadelszen P, McFadden DE, Robinson WP
DOI: 10.1038/ejhg.2010.63
PubMed: 20442742

Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction.
Robinson WP, Peñaherrera MS, Jiang R, Avila L, Sloan J, McFadden DE, Langlois S, von Dadelszen P
DOI: 10.1002/pd.2597
PubMed: 19918961

Effect of chorioamnionitis on brain development and injury in premature newborns.
Chau V, Poskitt KJ, McFadden DE, Bowen-Roberts T, Synnes A, Brant R, Sargent MA, Soulikias W, Miller SP
DOI: 10.1002/ana.21713
PubMed: 19743455

Placental weight in pregnancies with trisomy confined to the placenta.
Yong PJ, von Dadelszen P, McFadden DE, Barrett IJ, Kalousek DK, Robinson WP
PubMed: 19761633

Congenital gliosarcoma: detailed clinicopathologic documentation of a rare neoplasm.
Hocwald O, McFadden D, Osiovich H, Dunham C
DOI: 10.2350/09-01-0592-oa.1
PubMed: 19883237

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.
Waye JS, Eng B, Potter MA, Nowaczyk MJ, McFadden D, Langlois S
DOI: 10.1002/ajmg.a.31802
PubMed: 17595012

Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12.
Schrader KA, Nelson TN, McFadden DE, Pantzar T, Langlois S
DOI: 10.1002/ajmg.a.31818
PubMed: 17593545

Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5.
Robinson WP, Slee J, Smith N, Murch A, Watson SK, Lam WL, McFadden DE
DOI: 10.1002/ajmg.a.31800
PubMed: 17593542

Origin and outcome of pregnancies affected by androgenetic/biparental chimerism.
Robinson WP, Lauzon JL, Innes AM, Lim K, Arsovska S, McFadden DE
DOI: 10.1093/humrep/del462
PubMed: 17185351

Toll-like receptor 4 polymorphisms and idiopathic chromosomally normal miscarriage.
Hirschfeld AF, Jiang R, Robinson WP, McFadden DE, Turvey SE
DOI: 10.1093/humrep/del377
PubMed: 16982657

Phenotype of triploid embryos.
McFadden DE, Robinson WP
DOI: 10.1136/jmg.2005.037747
PubMed: 16236813

Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia.
Kaiser-Rogers KA, McFadden DE, Livasy CA, Dansereau J, Jiang R, Knops JF, Lefebvre L, Rao KW, Robinson WP
DOI: 10.1136/jmg.2005.033571
PubMed: 15908568

Immunolocalization of estrogen receptor alpha and beta in human fetal prostate.
Shapiro E, Huang H, Masch RJ, McFadden DE, Wilson EL, Wu XR
DOI: 10.1097/01.ju.0000176472.90432.5b
PubMed: 16217392

The prostatic utricle is not a Mullerian duct remnant: immunohistochemical evidence for a distinct urogenital sinus origin.
Shapiro E, Huang H, McFadden DE, Masch RJ, Ng E, Lepor H, Wu XR
DOI: 10.1097/01.ju.0000140267.46772.7d
PubMed: 15371806

Maternal serum screening in triploidy.
McFadden DE, Hulait G, Lockitch G, Langlois S
DOI: 10.1002/pd.477
PubMed: 12454969

Dispermy--origin of diandric triploidy: brief communication.
McFadden DE, Jiang R, Langlois S, Robinson WP
DOI: 10.1093/humrep/17.12.3037
PubMed: 12456599

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism.
Robinson WP, McFadden DE, Barrett IJ, Kuchinka B, Peñaherrera MS, Bruyère H, Best RG, Pedreira DA, Langlois S, Kalousek DK
DOI: 10.1002/pd.483
PubMed: 12454962

The origin of abnormalities in recurrent aneuploidy/polyploidy.
Robinson WP, McFadden DE, Stephenson MD
DOI: 10.1086/324468
PubMed: 11675616

Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13).
Rajcan-Separovic E, Robinson WP, Stephenson M, Pantzar T, Arbour L, McFadden D, Guscott J
DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1173>3.0.co;2-1
PubMed: 11252000

Parental and meiotic origin of triploidy in the embryonic and fetal periods.
McFadden DE, Langlois S
DOI: 10.1034/j.1399-0004.2000.580306.x
PubMed: 11076041

Gonadal pathology in triploidy.
McFadden DE, Pantzar JT, Jevon GP
DOI: 10.1007/s100240010114
PubMed: 11000332

Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment.
Robinson WP, Bernasconi F, Lau A, McFadden DE
DOI: 10.1002/(sici)1096-8628(19990507)84:13.3.co;2-z
PubMed: 10213044

A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma.
Knezevich SR, McFadden DE, Tao W, Lim JF, Sorensen PH
DOI: 10.1038/ng0298-184
PubMed: 9462753

Chromosome abnormalities in human beings.
McFadden DE, Friedman JM
DOI: 10.1016/s0027-5107(97)00179-6
PubMed: 9434864

Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.
McFadden DE, Pantzar JT, Van Allen MI, Langlois S
DOI: 10.1136/jmg.34.10.846
PubMed: 9350819

Pleural relapse during hematopoietic remission in childhood acute lymphoblastic leukemia.
Dix DB, Anderson RA, McFadden DE, Wadsworth LD
DOI: 10.1097/00043426-199709000-00013
PubMed: 9329473

Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.
Drumheller T, McGillivray BC, Behrner D, MacLeod P, McFadden DE, Roberson J, Venditti C, Chorney K, Chorney M, Smith DI
DOI: 10.1136/jmg.33.10.842
PubMed: 8933338

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.
Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP
DOI: 10.1002/(sici)1096-8628(19961016)65:23.0.co;2-r
PubMed: 8911605

Placental pathology of triploidy.
McFadden DE, Pantzar JT
DOI: 10.1016/s0046-8177(96)90277-4
PubMed: 8892584


Current Projects
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.

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.