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1.  Metabolic Syndrome features and risk of neural tube defects 
Background
Maternal obesity and pre-pregnancy diabetes mellitus, features of the metabolic syndrome (MetSyn), are individual risk factors for neural tube defects (NTD). Whether they, in combination with additional features of MetSyn, alter this risk is not known. We evaluated the risk of NTD in association with maternal features of the MetSyn.
Methods
We used a population-based case-control study design in the province of Ontario, Canada. Cases and controls were derived from women who underwent antenatal maternal screening (MSS) at 15 to 20 weeks' gestation. There were 89 maternal cases with, and 434 controls without, an NTD-affected singleton pregnancy. Maternal features of MetSyn were defined by the presence of pre-pregnancy diabetes mellitus, body weight ≥ 90th centile among controls, non-white ethnicity and/or serum highly sensitive C-reactive protein (hsCRP) ≥ 75th centile of controls. Since hsCRP naturally increases in pregnancy, analyses were performed with, and without, the inclusion of hsCRP in the model.
Results
Mean hsCRP concentrations were exceptionally high among study cases and controls (6.1 and 6.4 mg/L, respectively). When hsCRP was excluded from the model, the adjusted odds ratios for NTD were 1.9 (95% confidence interval 1.1–3.4) in the presence 1 feature of MetSyn, and 6.1 (1.1–32.9) in the presence of 2 or more features. When hsCRP was included, the respective risk estimates were attenuated to 1.6 (0.88–2.8) and 3.1 (1.2–8.3).
Conclusion
We found about 2-fold and 6-fold higher risk for NTD in the presence 1, and 2 or more features, of the metabolic syndrome, respectively. It is not clear whether this risk is altered by the presence of a high serum hsCRP concentration.
doi:10.1186/1471-2393-7-21
PMCID: PMC2039731  PMID: 17880716
2.  Maternal ethnicity and risk of neural tube defects: a population-based study 
Background
Maternal body mass and the presence of diabetes mellitus are probable risk factors for neural tube defects (NTDs). The association between maternal ethnicity and the risk of NTDs remains poorly understood, however.
Methods
We performed a retrospective population-based study and included all women in Ontario who underwent antenatal maternal screening (MSS) at 15 to 20 weeks' gestation between 1994 and late 2000. Self-declared maternal date of birth, ethnicity and weight and the presence of pregestational diabetes mellitus were recorded in a standardized fashion on the MSS requisition sheet. NTDs were detected antenatally by ultrasonography or fetal autopsy and postnatally by considering all live and stillborn affected infants beyond 20 weeks' gestation. The risk of open NTD was evaluated across the 5 broad ethnic groups used for MSS, with white ethnicity as the referent.
Results
Compared with white women (n = 290 799), women of First Nations origin (n = 1551) were at increased associated risk of an NTD-affected pregnancy (adjusted odds ratio [OR] 5.2, 95% confidence interval [CI] 2.1–12.9). Women of other ethnic origins were not at increased associated risk compared with white women (women of Asian origin [n = 75 590]: adjusted OR 0.9, 95% CI 0.6–1.3; black women [n = 25 966]: adjusted OR 0.6, 95% CI 0.3–1.1; women of “other” ethnic origin [n = 10 009]: adjusted OR 0.1, 95% CI 0.02–0.9).
Interpretation
The associated risk of NTD-affected pregnancies was higher among women of First Nations origin than among women of other ethnic origins. The mechanisms for this discrepancy should be explored.
doi:10.1503/cmaj.1040254
PMCID: PMC509047  PMID: 15313993
3.  Practical aspects of genetic testing in ambulatory paediatrics and child health care 
Paediatrics & Child Health  2003;8(1):20-23.
BACKGROUND:
An overview of practical aspects of genetic testing in ambulatory practice in Canada.
OBJECTIVE:
To provide an overview and practical references for child health specialists and paediatricians on genetic services that can be provided to their patients.
METHODS/RESULTS:
A review and summary of areas of genetic testing options available across Canada.
CONCLUSIONS:
Modern Canadian paediatric practice requires office-based practitioners to fully understand and utilize genetics testing in their offices.
PMCID: PMC2791072  PMID: 20011551
Ambulatory paediatrics; Diagnostic genetic testing
4.  Preconception Clinical Genetics 
Canadian Family Physician  1988;34:891-893.
In Canada today, the average family size is declining and the expectation of most couples regarding health for their children is rising. These trends are placing more “value” on each pregnancy. Couples who are concerned about future pregnancies are now more often seeking advice relating to their family history and the risks of having children born with significant disorders before they undertake a conception. The family physician can play a key role in providing preconception counselling.
PMCID: PMC2218977  PMID: 21253095
preconception; genetic counselling; risk evaluation

Results 1-4 (4)