Skip header and navigation

Refine By

10 records – page 1 of 1.

The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein.

https://arctichealth.org/en/permalink/ahliterature178527
Source
Reprod Biol Endocrinol. 2004 Sep 7;2:65
Publication Type
Article
Date
Sep-7-2004
Author
Natalie K Björklund
Jane A Evans
Cheryl R Greenberg
Lorne E Seargeant
Carol E Schneider
Bernard N Chodirker
Author Affiliation
Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Canada. umbjork1@cc.UManitoba.CA
Source
Reprod Biol Endocrinol. 2004 Sep 7;2:65
Date
Sep-7-2004
Language
English
Publication Type
Article
Keywords
Cytosine - metabolism
Female
Genetic Variation - genetics
Genotype
Heterozygote
Homozygote
Humans
Manitoba - epidemiology
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Pilot Projects
Point Mutation - genetics
Pregnancy - blood
Pregnancy Complications - epidemiology
Pregnancy Trimester, Third - genetics
Questionnaires
Thymine - metabolism
alpha-Fetoproteins - metabolism
Abstract
The C677T MTHFR variant has been associated with the same third trimester pregnancy complications as seen in women who have elevations of maternal serum alpha-fetoprotein (MSAFP). We hypothesized that these women with third trimester pregnancy complications and MSAFP elevations would have an increased frequency of the variant compared to an abnormal study control group (women with MSAFP elevations without pregnancy complications) as well as to normal population controls.
Women who had unexplained elevations of MSAFP in pregnancy were ascertained retrospectively. The frequency of the C677T MTHFR variant among those women with unexplained elevations of MSAFP who had experienced later pregnancy complications was compared to that of women with unexplained elevations of MSAFP without complications as well as to that of the previously established Manitoba frequency.
Women who had complications of pregnancy and an unexplained MSAFP elevation had a higher allele frequency for the C677T MTHFR variant (q = 0.36,) compared to women with MSAFP elevations and normal pregnancy outcomes (q = 0.25, OR 1.73 95% CI 1.25-2.37, p = 0.03). The frequency was also higher than that of the population controls (q= 0.25, OR 1.70 95% CI 1.11-2.60, p = 0.007). The frequency in women with MSAFP elevations without pregnancy complications was not significantly different from that of the population controls (p = 0.41).
Women with unexplained elevations of MSAFP and who experience complications in later pregnancy are more likely to have one or two alleles of the C677T MTHFR variant.
Notes
Cites: Obstet Gynecol. 1999 Dec;94(6):929-3410576178
Cites: Clin Genet. 2000 Nov;58(5):406-811140843
Cites: CMAJ. 2000 May 30;162(11):1557-910862228
Cites: Med Hypotheses. 2001 Jan;56(1):85-9011133260
Cites: Clin Exp Obstet Gynecol. 2000;27(3-4):157-6711214939
Cites: Br J Nutr. 2000 Dec;84(6):891-611177206
Cites: Obstet Gynecol. 2001 Feb;97(2):272-611165594
Cites: Am J Obstet Gynecol. 2001 Feb;184(3):394-40211228493
Cites: Clin Chim Acta. 2001 Apr;306(1-2):103-911282100
Cites: Eur J Obstet Gynecol Reprod Biol. 2001 Apr;95(2):206-1211301173
Cites: Am J Med Genet. 2002 Jan 15;107(2):162-811807892
Cites: Med Care. 2002 Mar;40(3):190-20011880792
Cites: Thromb Haemost. 2002 May;87(5):779-8512038776
Cites: N Engl J Med. 2002 Jul 4;347(1):19-2512097536
Cites: Curr Opin Obstet Gynecol. 2002 Dec;14(6):601-612441699
Cites: Obstet Gynecol. 2003 Apr;101(4):762-612681883
Cites: Clin Chem. 2003 Sep;49(9):1476-8212928228
Cites: Acta Obstet Gynecol Scand. 2004 Feb;83(2):155-814756732
Cites: BMC Health Serv Res. 2003 Nov 18;3(1):2114622444
Cites: Am J Hum Genet. 1987 Aug;41(2):128-373475976
Cites: Can J Public Health. 1994 Nov-Dec;85(6):424-67534622
Cites: Clin Chem. 1995 Jul;41(7):991-47600701
Cites: Clin Chem. 1995 Dec;41(12 Pt 1):1780-17497624
Cites: Obstet Gynecol Clin North Am. 1997 Mar;24(1):33-479086517
Cites: Thromb Haemost. 1999 Jun;81(6):891-910404763
Cites: CMAJ. 2000 Oct 31;163(9):1129-3011079054
Cites: Hypertens Pregnancy. 2000;19(3):299-30711118403
Cites: Am J Clin Nutr. 2000 Apr;71(4):962-810731504
PubMed ID
15352998 View in PubMed
Less detail

Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada.

https://arctichealth.org/en/permalink/ahliterature169434
Source
Am J Med Genet A. 2006 Jul 1;140(13):1428-39
Publication Type
Article
Date
Jul-1-2006
Author
Alison M Elliott
Martin H Reed
Albert E Chudley
Bernard N Chodirker
Jane A Evans
Author Affiliation
Department of Biochemistry and Medical Genetics, University of Manitoba, 770 Bannatyne Avenue, Winnipeg, Manitoba, Canada. amelliott@mts.net
Source
Am J Med Genet A. 2006 Jul 1;140(13):1428-39
Date
Jul-1-2006
Language
English
Publication Type
Article
Keywords
Cohort Studies
Female
Foot Deformities, Congenital - epidemiology - genetics - pathology
Hand Deformities, Congenital - epidemiology - genetics - pathology
Humans
Incidence
Male
Manitoba - epidemiology
Prevalence
Syndactyly
Abstract
We conducted a clinical population study to examine the incidence and epidemiology of split hand foot-malformation (SHFM) in Manitoba from 1957 to 2003. The total number of births during this period was 850,742. Forty-three patients with SHFM were identified, resulting in an incidence of 1 in 19,784 births. Most patients were ascertained through referrals to the Section of Genetics and Metabolism at the Children's Hospital, Winnipeg, Manitoba. Overall, 22 (51.2%) of affected individuals were females and 21 (48.8%) were male. The left upper limb (LUL) was the most frequently affected, (in 46.5% of patients). The right hand was involved in 39.5%. In 4 patients (9.3%) all four limbs were affected. SHFM is classified as a failure of formation of parts according to the International Federation of Surgical Societies of the Hand (IFSSH) and has also been categorized as Typical or Atypical. Individuals in the Manitoba cohort were classified into two main categories: Typical (29 cases) and Atypical (3 cases). However, 11 patients were not easily placed into either group and comprised a distinct category termed "difficult to classify." Patients in the three groups were then further subdivided depending on whether or not they had additional congenital anomalies. These complex patients included those with single gene disorders in which SHFM has been reported (e.g., ectodermal dysplasia Ectrodactyly Clefting (EEC), tibial aplasia with SHFM, fibular aplasia with SHFM), as well as those with other recognized or unknown patterns of anomalies. Two had deletions involving 9q and 5p respectively. Unlike some other studies, we did not find an excess of males or right-sided defects and only two of the cases--two sisters--were related.
PubMed ID
16673359 View in PubMed
Less detail

Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.

https://arctichealth.org/en/permalink/ahliterature187413
Source
Am J Med Genet A. 2003 Jan 1;116A(1):85-9
Publication Type
Article
Date
Jan-1-2003
Author
Sandra L Marles
Martin Reed
Jane A Evans
Author Affiliation
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada. smarles@hsc.mb.ca
Source
Am J Med Genet A. 2003 Jan 1;116A(1):85-9
Date
Jan-1-2003
Language
English
Publication Type
Article
Keywords
Abnormalities, Drug-Induced
Abnormalities, Multiple - chemically induced - pathology
Adult
Child, Preschool
Cocaine - adverse effects
Ectromelia - pathology
Female
Fingers - abnormalities
Humans
Humerus - abnormalities
Male
Pregnancy
Prenatal Exposure Delayed Effects
Radius - abnormalities
Syndactyly - pathology
Synostosis - pathology
Ulna - abnormalities
Abstract
Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies. The family history was unremarkable, but he was exposed prenatally to cocaine at the time of limb development. Humeroradial synostosis with ulnar aplasia has been reported by several authors. The majority of cases are unilateral. When both upper limbs arms are involved, cases with oligodactyly often have asymmetrical limb deficiencies and have all been sporadic to date. Some appear to represent cases of the femur-fibula-ulna or FFU complex. Affected individuals with normal hands usually have symmetrical defects and show an autosomal recessive pattern of inheritance. Limb deficiencies have been reported in several infants exposed prenatally to cocaine and have been inducible in animal models. Most are terminal transverse defects or deficiencies of middle digits. When more than one limb is involved, the defects are usually asymmetric. Our case appears to be one of the most severely affected children reported to date.
PubMed ID
12476458 View in PubMed
Less detail

Impact of folic acid food fortification on the birth prevalence of lipomyelomeningocele in Canada.

https://arctichealth.org/en/permalink/ahliterature160054
Source
Birth Defects Res A Clin Mol Teratol. 2008 Feb;82(2):106-9
Publication Type
Article
Date
Feb-2008
Author
Philippe De Wals
Margot I Van Allen
R Brian Lowry
Jane A Evans
Michiel C Van den Hof
Marian Crowley
Fassiatou Tairou
Soo-Hong Uh
Barbara Sibbald
Pamela Zimmer
Bridget Fernandez
Nora S Lee
Théophile Niyonsenga
Author Affiliation
Department of Social and Preventive Medicine, Laval University, Quebec City, Qc, Canada. Philippe.Dewals@msp.ulaval.ca
Source
Birth Defects Res A Clin Mol Teratol. 2008 Feb;82(2):106-9
Date
Feb-2008
Language
English
Publication Type
Article
Keywords
Canada
Female
Folic Acid - administration & dosage
Food, Fortified
Humans
Infant, Newborn
Male
Meningomyelocele - epidemiology - prevention & control
Prevalence
Abstract
Recent studies reported no reduction in the frequency of lipomeningomyelocele (LMMC) in Hawaii and Nova Scotia after the implementation of a folic acid food fortification policy in 1998, while a marked reduction in the prevalence of other NTDs was observed. This study was performed to assess the prevalence of LMMC in Canada in relation to the timing of food fortification.
The study population included livebirths, stillbirths, and terminations of pregnancies because of fetal anomaly to women residing in seven Canadian provinces, from 1993 to 2002. In each province, the ascertainment of NTD cases relied on multiple sources, and in addition all medical charts were reviewed. The study period was divided into pre-, partial, and full fortification periods, based on results of red cell folate tests published in the literature.
A total of 86 LMMC cases were recorded among approximately 1.9 million live births. The average birth prevalence rate was 0.05/1,000, ranging from a minimum of 0.01/1,000 in 2002 to a maximum of 0.08/1,000 in 1999. There was statistical heterogeneity between years (p = .01), but no pattern compatible with a decrease following fortification. Comparing the full fortification period with the prefortification period, there was a slight but not statistically significant decrease in LMMC birth prevalence.
LMMC seems to be pathogenically distinct from myelomeningocele and more studies are needed to understand the embryologic mechanisms leading to this condition, and the environmental and genetic factors involved in its etiology.
PubMed ID
18050337 View in PubMed
Less detail

Old meets new: identifying founder mutations in genetic disease.

https://arctichealth.org/en/permalink/ahliterature263534
Source
CMAJ. 2015 Feb 3;187(2):93-4
Publication Type
Article
Date
Feb-3-2015
Author
Jane A Evans
Source
CMAJ. 2015 Feb 3;187(2):93-4
Date
Feb-3-2015
Language
English
Publication Type
Article
Keywords
Carbohydrate Metabolism, Inborn Errors - ethnology - genetics
Female
Founder Effect
Glycogen Debranching Enzyme System - genetics
Glycogen Storage Disease Type III - ethnology - genetics
Humans
Inuits - genetics
Male
Mutation - genetics
Sucrase-Isomaltase Complex - deficiency - genetics
Notes
Cites: Ann Neurol. 2002 Oct;52(4):506-1012325082
Cites: Am J Hum Genet. 1997 May;60(5):1079-849150155
Cites: Eur J Hum Genet. 1997 Sep-Oct;5(5):266-709412782
Cites: CMAJ. 2005 Feb 1;172(3):355-815684118
Cites: Am Fam Physician. 2005 Aug 1;72(3):386-716100853
Cites: Am Fam Physician. 2005 Aug 1;72(3):441-816100858
Cites: Fam Cancer. 2007;6(1):1-1217039271
Cites: Am J Hum Genet. 2014 Jun 5;94(6):809-1724906018
Cites: CMAJ. 2015 Feb 3;187(2):102-725452324
Cites: CMAJ. 2015 Feb 3;187(2):E68-7325602008
Cites: Mol Genet Metab. 2001 May;73(1):55-6311350183
Cites: Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4614-911904371
Comment On: CMAJ. 2015 Feb 3;187(2):102-725452324
Comment On: CMAJ. 2015 Feb 3;187(2):E68-7325602008
PubMed ID
25602001 View in PubMed
Less detail

Pre-conceptional vitamin/folic acid supplementation 2007.

https://arctichealth.org/en/permalink/ahliterature155228
Source
J Obstet Gynaecol Can. 2008 Aug;30(8):656-7; author reply 658
Publication Type
Article
Date
Aug-2008

Reduction in neural-tube defects after folic acid fortification in Canada.

https://arctichealth.org/en/permalink/ahliterature162516
Source
N Engl J Med. 2007 Jul 12;357(2):135-42
Publication Type
Article
Date
Jul-12-2007
Author
Philippe De Wals
Fassiatou Tairou
Margot I Van Allen
Soo-Hong Uh
R Brian Lowry
Barbara Sibbald
Jane A Evans
Michiel C Van den Hof
Pamela Zimmer
Marian Crowley
Bridget Fernandez
Nora S Lee
Theophile Niyonsenga
Author Affiliation
Laval University, Quebec, Canada. philippe.dewals@msp.ulaval.ca
Source
N Engl J Med. 2007 Jul 12;357(2):135-42
Date
Jul-12-2007
Language
English
Publication Type
Article
Keywords
Canada - epidemiology
Folic Acid - administration & dosage
Food, Fortified
Humans
Infant, Newborn
Neural Tube Defects - epidemiology - prevention & control
Prevalence
Vitamin B Complex - administration & dosage
Abstract
In 1998, folic acid fortification of a large variety of cereal products became mandatory in Canada, a country where the prevalence of neural-tube defects was historically higher in the eastern provinces than in the western provinces. We assessed changes in the prevalence of neural-tube defects in Canada before and after food fortification with folic acid was implemented.
The study population included live births, stillbirths, and terminations of pregnancies because of fetal anomalies among women residing in seven Canadian provinces from 1993 to 2002. On the basis of published results of testing of red-cell folate levels, the study period was divided into prefortification, partial-fortification, and full-fortification periods. We evaluated the relationship between baseline rates of neural-tube defects in each province and the magnitude of the decrease after fortification was implemented.
A total of 2446 subjects with neural-tube defects were recorded among 1.9 million births. The prevalence of neural-tube defects decreased from 1.58 per 1000 births before fortification to 0.86 per 1000 births during the full-fortification period, a 46% reduction (95% confidence interval, 40 to 51). The magnitude of the decrease was proportional to the prefortification baseline rate in each province, and geographical differences almost disappeared after fortification began. The observed reduction in rate was greater for spina bifida (a decrease of 53%) than for anencephaly and encephalocele (decreases of 38% and 31%, respectively).
Food fortification with folic acid was associated with a significant reduction in the rate of neural-tube defects in Canada. The decrease was greatest in areas in which the baseline rate was high.
PubMed ID
17625125 View in PubMed
Less detail

Spina bifida before and after folic acid fortification in Canada.

https://arctichealth.org/en/permalink/ahliterature155964
Source
Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):622-6
Publication Type
Article
Date
Sep-2008
Author
Philippe De Wals
Fassiatou Tairou
Margot I Van Allen
R Brian Lowry
Jane A Evans
Michiel C Van den Hof
Marian Crowley
Soo-Hong Uh
Pamela Zimmer
Barbara Sibbald
Bridget Fernandez
Nora S Lee
Theophile Niyonsenga
Author Affiliation
Department of Social and Preventive Medicine, Laval University, Quebec City, QC, Canada. Philippe.Dewals@msp.ulaval.ca
Source
Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):622-6
Date
Sep-2008
Language
English
Publication Type
Article
Keywords
Canada - epidemiology
Female
Folic Acid - administration & dosage - physiology
Food, Fortified
Humans
Male
Pregnancy
Prevalence
Retrospective Studies
Spinal Dysraphism - epidemiology - metabolism - prevention & control
Abstract
In 1998, fortification of a large variety of cereal products with folic acid became mandatory in Canada. A multicentric study was carried out to assess the impact of this policy on the frequency of NTDs. The present analysis focused on spina bifida.
The study population included approximately 2 million livebirths, stillbirths, and terminations of pregnancies because of fetal anomalies among women residing in seven Canadian provinces, from 1993 to 2002. Spina bifida cases were divided according to the upper limit of the defect: upper (cranial, cervical, or thoracic) and lower (lumbar or sacral) defects. Based on published results of red blood cell folate tests, the study period was divided into prefortification, partial fortification, and full fortification periods.
A total of 1,286 spina bifida cases were identified: 51% livebirths, 3% stillbirths, and 46% terminations. Prevalence decreased from 0.86/1,000 in the prefortification to 0.40 in the full fortification period, while the proportion of upper defects decreased from 32% to 13%. Following fortification, regional variations in the prevalence and distribution of sites almost disappeared.
Results confirmed the etiologic heterogeneity of spina bifida and the more pronounced effect of folic acid in decreasing the risk of the more severe clinical presentations.
PubMed ID
18655127 View in PubMed
Less detail

Very low second-trimester maternal serum alpha-fetoprotein: Association with high birth weight.

https://arctichealth.org/en/permalink/ahliterature189989
Source
Obstet Gynecol. 2002 Apr;99(4):531-6
Publication Type
Article
Date
Apr-2002
Author
Ahmet A Baschat
Chris R Harman
Gehan Farid
Bernard N Chodirker
Jane A Evans
Author Affiliation
Department of Obstetrics, University of Maryland, Baltimore, Maryland, USA. aabaschat@hotmail.com
Source
Obstet Gynecol. 2002 Apr;99(4):531-6
Date
Apr-2002
Language
English
Publication Type
Article
Keywords
Adult
Amniocentesis - statistics & numerical data
Biological Markers - blood
Birth Weight - physiology
Case-Control Studies
Delivery, obstetric - statistics & numerical data
Female
Fetal Macrosomia - diagnosis
Fetal Monitoring
Gestational Age
Humans
Infant, Newborn
Male
Manitoba - epidemiology
Mass Screening - statistics & numerical data
Parity
Pregnancy
Pregnancy Outcome - epidemiology
Pregnancy Trimester, Second - blood
Pregnancy in Diabetics - blood - epidemiology
Retrospective Studies
Sex Distribution
Trisomy
alpha-Fetoproteins - analysis
Abstract
To investigate the relationship between very low maternal serum alpha-fetoprotein levels (MSAFP), neonatal size, and possible associations with obstetric complications.
This is a retrospective case-control study in a population managed prospectively by a standardized protocol. Perinatal outcomes were compared between patients with unexplained very low MSAFP (less than or equal to 0.25 multiples of the median) and control pregnancies with normal MSAFP, matched by precise gestational age, parity, maternal age within 1 year, and gender of the newborn.
Of the 84,909 women screened, 464 (0.55%) met the definition of very low MSAFP. On tertiary evaluation, 226 had dates reassigned by ultrasound. After exclusion of overt diabetics, patients who were not pregnant, invalidated MSAFP, and 17 patients lost to follow-up, 178 women (0.21% of the total) had true very low MSAFP. True very low MSAFP was associated with subsequent miscarriage in 67 women and with fetal aneuploidy and/or serious abnormalities in 12 patients, leaving a population of 97 women (1.14 per 1000 women screened) with unexplained very low MSAFP. Without obvious demographic or obstetric factors, these women had heavier babies, more babies above the 90th percentile, more delivery complications caused by large birth weight (41 versus 16, chi(2), P
PubMed ID
12039105 View in PubMed
Less detail

10 records – page 1 of 1.