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Biomedical subjects

A D Sadovnick

Publications and source records attributed to A D Sadovnick.

At least 127 records · Page 7Linked to original sources
PubMed1985

Reproductive counselling for multiple sclerosis patients.

The diagnosis of multiple sclerosis (MS) is frequently made during the reproductive years, and there is increasing evidence that it has a genetic causal component. An increasing number of couples are concerned about recurrence and they request reproductive counselling at genetic clinics or from their physicians. Here we outline factors to be considered in the reproductive counselling of such individuals. These include empiric recurrence risks, the effect of pregnancy and delivery on maternal MS, overall pregnancy outcome, longterm prognosis for the affected parent, and the possibility of sexual dysfunction in couples trying to conceive a child.

Adult↗
PubMed1985

Congenital malformations associated with anencephaly in liveborn and stillborn infants.

Records from the population-based British Columbia Health Surveillance Registry were examined, and a total of 456 infants with anencephaly (181 liveborns, 275 stillborns) were identified. Registry records list up to four congenital malformations per individual, and the records of the study cohort were reviewed for the presence of additional malformations. A total of 12.7% of infants (14.4% liveborns, 11.6% stillborns) had congenital malformations in addition to anencephaly. The frequencies of specific congenital malformations (e.g., talipes, cleft lip and/or palate, omphalocele) in infants with anencephaly were compared with the frequencies of these malformations in the general population of liveborns. In addition, the types of additional congenital malformations in liveborn anencephalics compared to stillborns were looked at. The similarity suggests that it is not just the presence of these additional congenital malformations that leads to death in utero. The data provide further evidence for etiological heterogeneity in neural tube defects.

Abnormalities, Multiple↗
PubMed1985

Mental retardation in over half-a-million consecutive livebirths: an epidemiological study.

Prevalence and incidence of all levels of mental retardation were investigated in the population of British Columbia. Ascertainment was through the British Columbia Health Surveillance Registry. The minimum prevalence for all levels of retardation among the 15- to 29-year age group, where ascertainment was best, was 7.7 per 1,000 (8.8 per 1,000 males, 6.6 per 1,000 females). Minimum ascertainment (incidence) of retardation in the 1952 to 1966 birth cohort was 9.3 per 1,000 livebirths (9.9 per 1,000 males, 8.6 per 1,000 females). Data were also presented on lagtime (time from birth until a retarded person is identified in association with the level of functioning and the presence or absence of disabilities in addition to mental retardation.

Adolescent↗
PubMed1984

Survival in infants with anencephaly.

There is little available literature on survival data in the form of lifetables for babies born with anencephaly. These data would be valuable in advising parents, who often request very specific information on the length of time their child might survive. Survival is examined for a cohort of anencephalic infants in a well-defined population. Sex-specific survival tables are given, since these are the most practical to use for counselling purposes. These data show that over 40 percent of liveborn anencephalic infants (51% males; 34% females) survive longer than 24 hours, and of these, 5 percent are still alive on the seventh day. Data also are presented on the types of malformations observed in addition to anencephaly.

Anencephaly↗
PubMed1983

Incidence of neural tube defects in liveborn and stillborn infants in British Columbia over a 10-year period.

Reports of an apparent decline in the incidence of neural tube defects (NTDs) have come from various parts of the world. If these findings are consistent they would have an important impact on prenatal diagnosis and on screening programs. The incidence of NTDs over a 10-year period was examined in British Columbia, a province that has a population-based health surveillance registry through which there is virtually complete ascertainment of liveborn infants with NTDs. The results showed a significant decrease in incidence only for stillborn infants with anencephaly. The increased use of ultrasonography and the subsequent termination of pregnancies in which the fetus has been found to have anencephaly may explain this observation.

Anencephaly↗
PubMed1982

A cost-benefit analysis of prenatal diagnosis for neural tube defects selectively offered to relatives of index cases.

Relatives of patients with neural tube defects (NTD) frequently request prenatal diagnosis for this problem, and it would be helpful to have information on cost-benefit aspects of offering this service to them. A cost-benefit analysis was done for selective prenatal diagnosis offered to parents and aunts of index cases as these are the two groups for which adequate empiric data are available. The results are extrapolated to other relatives. The study concludes that prenatal diagnosis is cost-beneficial if selectively offered for pregnancies where the fetus is a first or second degree relative of an index case. The results are discussed in terms of whether prenatal diagnosis should be offered to all aunts of index cases or only to maternal aunts. The lifetime costs of caring for an individual with spina bifida, in 1980 dollars, was calculated to be approximately $84,000.

Amniocentesis↗
PubMed1981

A goodness-of-fit test for the polygenic threshold model: application to multiple sclerosis.

Recently it has been suggested that multiple sclerosis may be a multifactorial disorder. We found in British Columbia 364 families (sibship size greater than or equal to 2) in which at least on sibling was diagnosed as having "clinically definite" multiple sclerosis. The data were tested for goodness-of-fit to the multifactorial model using an analysis that considers various parameters including ascertainment probability heritability, and sex-dependent prevalence rates. The results suggest that multiple sclerosis does not fit the multifactorial model. As an alternative genetic model we propose that a major gene could be responsible for at least a portion of the cases of multiple sclerosis.

Alleles↗
PubMed1981

A cost-benefit analysis of prenatal detection of Down syndrome and neural tube defects in older mothers.

Infants of older mothers have an increased risk of Down syndrome. As public awareness of this disorder increases, so does the number of women requesting prenatal diagnosis for advanced maternal age. A cost-benefit analysis was done to determine the maternal age for which screening for Down syndrome is cost-beneficial. The analysis took into account the cases of neural tube defects which would be detected "incidentally" on amniocentesis, as all amniotic fluid samples have alpha fetoprotein levels measured. British Columbia (B.C.) provides a unique opportunity for such a study: single-year maternal age risk figures for Down syndrome based on virtually complete ascertainment are available; the Department of Medical Genetics Prenatal Diagnosis Clinic is the main referral centre for the province; B.C. has a universal medicare system which facilitates the calculation of medical costs and gives all women financially equal access to prenatal diagnosis. The study concludes that prenatal screening for Down syndrome is cost beneficial for women 34 years old or older at conception. A discount rate of 14% was chosen for this analysis and the effect of such a rate on the results is discussed.

Cost-Benefit Analysis↗
PubMed1981

The familial nature of multiple sclerosis: empiric recurrence risks for first, second-, and third-degree relatives of patients.

Although the risks are low, relatives of multiple sclerosis (MS) patients have a greater risk of developing the disease than the general population. Since this is true of second- and third-degree relatives as well as first-degree relatives, the increased risk cannot be explained solely by environmental factors. This observation is part of the evidence that the etiology of MS may have a genetic component. Genetic counseling is recommended for MS patients. Empiric recurrence risks have been derived and give the counselor necessary information with which to provide this service.

Female↗