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7 records – page 1 of 1.

The diffusion of genetic amniocentesis in Ontario: 1969-1987.

https://arctichealth.org/en/permalink/ahliterature228056
Source
Can J Public Health. 1990 Nov-Dec;81(6):431-5
Publication Type
Article
Author
P A McDonough
Author Affiliation
Department of Behavioural Science, Faculty of Medicine, University of Toronto, Ontario.
Source
Can J Public Health. 1990 Nov-Dec;81(6):431-5
Language
English
Publication Type
Article
Keywords
Amniocentesis - statistics & numerical data - utilization
Birth rate
Diffusion of Innovation
Genetic Testing - methods
Health Policy
Humans
Maternal Age
Ontario
Abstract
The diffusion of new medical technologies is often described as rapid, widespread and premature. Such characterizations have arisen largely from studies undertaken in the U.S. The extent to which these patterns can be generalized to the Canadian context is not yet clear. This paper examines the diffusion of genetic amniocentesis in relation to its adoption and utilization in Ontario. Slow and limited institutional adoption of amniocentesis and substantial increases in its use at several centres offering the procedure reveal differences with and similarities to the U.S.-based model. Possible explanations of these differences and the public policy implications of the findings are discussed.
PubMed ID
2282603 View in PubMed
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Genetic amniocentesis: a six-years experience in an isolated region of northeastern Quebec (Canada).

https://arctichealth.org/en/permalink/ahliterature222513
Source
Genet Couns. 1993;4(2):103-8
Publication Type
Article
Date
1993
Author
G. Hamel
L. Simard
R. Gagné
M. De Braekeleer
Author Affiliation
Clinique d'Amniocentèse, Hôpital de Chicoutimi, Québec, Canada.
Source
Genet Couns. 1993;4(2):103-8
Date
1993
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Amniocentesis - statistics & numerical data
Chromosome Aberrations - diagnosis
Chromosome Disorders
Congenital Abnormalities - diagnosis
Female
Fetal Diseases - diagnosis
Genetic Diseases, Inborn - diagnosis
Humans
Maternal Age
Middle Aged
Neural Tube Defects - diagnosis
Pregnancy
Pregnancy, High-Risk
Quebec
Retrospective Studies
alpha-Fetoproteins - analysis
Abstract
The indications, results and outcomes of 508 genetic amniocenteses performed during a 6-years period in Saguenay-Lac-St-Jean (SLSJ), a geographically isolated region of Quebec were reviewed. The geographical distribution of the residences showed that women living in urban communities were more likely to have an amniocentesis than those coming from rural communities. Advanced maternal age was the most frequent indication (62%) while a family history of hereditary disease was an indication in 9%, which is higher than in other published series. The rate of abnormal results in SLSJ was similar to those obtained in other series except for the rate found in amniocenteses done for hereditary diseases (4.3% versus 17.4-45.5%). All the pregnancies for which an abnormal result, but balanced translocations, was found were interrupted or ended spontaneously.
PubMed ID
7689325 View in PubMed
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[Prenatal diagnosis in the county of Viborg before and after decentralization of sample taking]

https://arctichealth.org/en/permalink/ahliterature65152
Source
Ugeskr Laeger. 1990 Oct 22;152(43):3155-9
Publication Type
Article
Date
Oct-22-1990
Author
C A Brandt
K H Thomsen
Author Affiliation
Aarhus Universitet, Institut for Human Genetik.
Source
Ugeskr Laeger. 1990 Oct 22;152(43):3155-9
Date
Oct-22-1990
Language
Danish
Publication Type
Article
Keywords
Amniocentesis - statistics & numerical data
Chorionic Villi Sampling - statistics & numerical data
Comparative Study
Denmark
English Abstract
Female
Humans
Obstetrics and Gynecology Department, Hospital - organization & administration
Pregnancy
Abstract
On account of an increase in the frequency of amniotic fluid samples (AFS), the need for further decentralisation of sampling developed. Viborg Amt (Viborg County) was able to offer this service to all pregnant women in the county after 01.VIII.1985 who fulfil the indication for prenatal diagnosis (PD). Among 902 registered AFS divided over a period of two years before and two years after the decentralisation there was no significant deterioration of the service measured by the number of spontaneous abortions and unsuccessful AFS. The indications for prenatal diagnosis altered in such a way that the unofficial indication of anxiety rose significantly while the indication of maternal age greater than or equal to 35 years decreased. Furthermore, a positive correlation was registered between a reduction of distance from the pregnant woman to the centre of sampling and the percentage of referrals made by the local practitioner. The paper also shows that more pregnant women, referred for AFS on account of advanced age, accepted PD than was registered in an earlier research, but this pattern declined in the research period.
PubMed ID
2238195 View in PubMed
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Prenatal diagnosis of hemoglobinopathies in Ontario, Canada.

https://arctichealth.org/en/permalink/ahliterature171590
Source
Ann N Y Acad Sci. 2005;1054:507-10
Publication Type
Article
Date
2005
Author
Raveen K Basran
Margie Patterson
Lynda Walker
Lisa M Nakamura
Barry Eng
David H K Chui
John S Waye
Author Affiliation
Department of Pathology and Molecular Medicine, Faculty of Health Sciences, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario L8N 3Z5, Canada.
Source
Ann N Y Acad Sci. 2005;1054:507-10
Date
2005
Language
English
Publication Type
Article
Keywords
Adult
Amniocentesis - statistics & numerical data - utilization
Anemia, Sickle Cell - diagnosis - epidemiology - prevention & control
Chorionic Villi Sampling - statistics & numerical data - utilization
Ethnic Groups - genetics
Female
Fetal Diseases - diagnosis - epidemiology
Genetic Counseling
Gestational Age
Hemoglobinopathies - diagnosis - epidemiology - prevention & control
Heterozygote Detection
Humans
Incidence
Male
Ontario - epidemiology
Pregnancy
Prenatal Diagnosis - statistics & numerical data - utilization
Risk
Thalassemia - diagnosis - epidemiology - prevention & control
Abstract
In 1989, the Province of Ontario established a molecular diagnostic laboratory for carrier detection and prenatal diagnosis of hemoglobinopathies. Over the past 15 years, the laboratory has provided prenatal diagnosis for 672 pregnancies at-risk for severe hemoglobinopathies: 276 (41%) for homozygous beta-thalassemia or hemoglobin (Hb) E/beta-thalassemia, 211 (31%) for homozygous alpha 0-thalassemia (Hb Bart's hydrops fetalis), and/or Hb H disease, and 185 (28%) for various sickling disorders (Hb SS, Hb SC, Hb S/beta-thalassemia). Despite the availability of services for carrier screening, genetic counseling, and prenatal diagnosis, there has been only a modest reduction in the overall incidence of hemoglobinopathies in Ontario.
PubMed ID
16339708 View in PubMed
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Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories.

https://arctichealth.org/en/permalink/ahliterature230839
Source
Am J Med Genet. 1989 May;33(1):14-53
Publication Type
Article
Date
May-1989
Author
A. Daniel
E B Hook
G. Wulf
Author Affiliation
Cytogenetics and Molecular Cell Biology Laboratory, Shodair Children's Hospital, Helena, Montana.
Source
Am J Med Genet. 1989 May;33(1):14-53
Date
May-1989
Language
English
Publication Type
Article
Keywords
Abortion, Habitual - genetics
Amniocentesis - statistics & numerical data
Canada
Chromosome Aberrations
Chromosome Deletion
Chromosome Inversion
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 21
Congenital Abnormalities - genetics
Female
Heterozygote Detection
Humans
Male
Pregnancy
Risk
Sex Factors
Translocation, Genetic
Trisomy
United States
Abstract
Data on 1,237 prenatal (amniocyte) diagnoses in cases of familial chromosome rearrangements were collated from 79 American and Canadian laboratories. These were added to European data (Daniel et al: Prenatal Diagn 6:315-350, 1986) on 596 reciprocal translocations (rcp) from 71 collaborative laboratories. The total data set was examined for relationships between balanced or unbalanced result and mode of ascertainment, sex of carrier parent, chromosomes involved, and (in cases of reciprocal translocations and pericentric inversions) for potential or actual chromosome imbalance size (% haploid autosome length). Risk rates for unbalanced segregants were markedly dissimilar. These ranged from approximately 50% down to essentially a negligible risk. The risk was approximately 50% for carriers of the following: complex chromosome rearrangements (ccr); insertions (ins); and for 2:2 segregating rcp ascertained by mode 1 (term unbalanced proband) with small imbalance segments. Pooled carriers (either sex) of 2:2 segregating rcp of mode 1 had a risk of 20-25% whereas female Robertsonian (rob) translocation (D;21) carriers and pericentric inversion (pii) carriers of pii with small distal segments had a risk of 10-15%. Pooled 2:2 segregating rcp carriers ascertained by mode 2 (a couple with recurrent miscarriages) and male carriers of rob (D;21) had a risk of 1.5-5%. The risk of unbalanced segregants was 1-2% (in this data) for male and female rob (13;14) carriers and for pooled pericentric inversion carriers. However, for carriers of most "type" (recurrent breakpoints) pii, for all paracentric inversions, and (as expected) for rob not involving 13 or 21, there were no term unbalanced progeny. For 2:2 segregating reciprocal translocations plots were prepared that could be used to determine broad risk groups for carriers of such rcp. In 3:1 segregating rcp there were 3.3 times fewer male than female carriers, whereas there were 1.3 times fewer male carriers in 2:2 segregating rcp. In 2:2 segregating rcp there is little effect on the fertility of male carriers and risks of unbalanced progeny were found to be equal to those for female carriers, whereas in the 3:1 segregating rcp, risks were much less for male as compared to female carriers. This indicates that 3:1 segregating rep are more similar to Robertsonian translocations in their greater effect on the fertility of male carriers.(ABSTRACT TRUNCATED AT 400 WORDS)
PubMed ID
2750783 View in PubMed
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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
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Women with chromosomally normal male fetuses are at increased risk of being referred for invasive testing following first-trimester risk assessment.

https://arctichealth.org/en/permalink/ahliterature134857
Source
Acta Obstet Gynecol Scand. 2011 Dec;90(12):1446-9
Publication Type
Article
Date
Dec-2011
Author
Caroline Borregaard Miltoft
Charlotte Kvist Ekelund
Line Rode
Ann Tabor
Author Affiliation
Department of Fetal Medicine, Copenhagen University Hospital Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark. caroline_winther@hotmail.com
Source
Acta Obstet Gynecol Scand. 2011 Dec;90(12):1446-9
Date
Dec-2011
Language
English
Publication Type
Article
Keywords
Amniocentesis - statistics & numerical data
Chi-Square Distribution
Chorionic Villi Sampling - statistics & numerical data
Denmark
Down Syndrome - diagnosis - genetics
Female
Humans
Karyotyping
Male
Odds Ratio
Pregnancy
Pregnancy Trimester, First
Referral and Consultation - statistics & numerical data
Risk assessment
Sex Factors
Abstract
This study investigated the gender distribution in karyotype results from chorionic villus samples and amniocenteses performed due to an increased risk for Down syndrome based on first-trimester combined risk assessment.
All prenatal karyotypes performed from 2006-2008 due to a risk assessment above 1:300 were retrieved from the Danish Central Cytogenetic Register. The distribution of gender for all newborns was obtained from Statistics Denmark. The ?(2) test and odds ratios were used for intergroup comparison.
We retrieved 5 157 karyotype results (54.9% male and 45.1% female karyotypes), of which 4 662 were normal. During the same period, 100 112 boys and 94 732 girls were born. Women carrying male fetuses were significantly more often referred for invasive testing than women carrying female fetuses (2.8 vs. 2.5%, p
PubMed ID
21535433 View in PubMed
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7 records – page 1 of 1.