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Biomedical subjects

P Videbech

Publications and source records attributed to P Videbech.

32 records · Page 2Linked to original sources
PubMed1986

Mortality and life expectancy of Down's syndrome in Denmark.

Based on the register of all persons registered in the Danish National Service for the Mentally Retarded (DNSMR) with a diagnosis of Down's syndrome in the period 1 January 1976-31 December 1980, the persons were followed until 31 March 1984 (a total of 2412 Down's syndrome patients). The difference in mortality for patients in institutions and living outside was significant, with a higher mortality for women with residence in institutions than women living outside. Among males the mortality rate was not significantly different between the two types of residents. Of the total group, a survival rate of 82.4 was found at the end of the age group 5-9 years and this result is similar to recent results from Salford and Japan. Although the life expectancy for the Down's syndrome group has increased, the life expectancy for Down's syndrome at any given age compared with life expectancy for the background population during the above mentioned period was still lower.

Adolescent↗
PubMed1984

Chromosome abnormalities and season of birth.

A study of seasonality has been made of birth of individuals with chromosome abnormalities registered in the Danish Cytogenetic Central Register before January 1, 1981. Significant seasonal variation in birth was found for males with Klinefelter's syndrome born before 1946, but not for those born later, and not for any other sex chromosome abnormality. No significant monthly variation was found for any autosomal abnormality, except a significant increase in the frequency of conceptions for Down's syndrome during the first 4 months of the year, using a chi square with 2 degrees of freedom.

Chromosome Aberrations↗
PubMed1984

The impact of large Y chromosome on pregnancy, foetus and birth.

In a current investigation of children born in the Arhus area (Denmark) chromosome examinations were made in 6,691 newborns. Of these children, 170 boys had a large Y chromosome (2.6%). The present material was examined using a bi-variate stratified analysis to eliminate social and simple biological factors that could act as confounders. No increased frequency of malformations was found, and birth weight and length was nearly equal in the probands and the controls. A significantly increased frequency of prostaglandin stimulation of labour was found for the mothers of the Yq+ boys. Differences in the frequency of mechanical disproportion or abnormal presentation could not explain this. The Yq+ boys suffered more frequently from intrauterine asphyxia leading to acute Caesarean section. This finding cannot be explained by long-standing placenta problems alone. A possible mechanism which could link these findings together is suggested, and it is concluded that the boys with Yq+ most probably should be regarded as being at a certain risk at the time of birth.

Apgar Score↗
PubMed1984

Diagnosing of chromosome abnormalities in Denmark.

A survey of how frequent chromosome abnormalities are diagnosed in Denmark prenatally as well as postnatally compared with the expected incidence in an 11-year period 1970-1980 has been made from the Danish Cytogenetic Central Register. Ten percent of the expected number of Klinefelter's syndrome, 41% of Turner's syndrome and 10% of other sex chromosome abnormalities in children born between 1970 and 1980 have been diagnosed until January 1, 1983. The total frequency of diagnosed cases with sex chromosome abnormalities is 13% of the expected number. Induced abortion was made in 62% of the cases with sex chromosome abnormalities diagnosed prenatally. Ninety percent of all cases with Down's syndrome were diagnosed by chromosome examination, and 10% were diagnosed prenatally and aborted. During the last part of the period from 1977-1980 this had increased to 20%. Thirty-seven percent of cases with other chromosome abnormalities were diagnosed. Among the expected 4,396 children with chromosome abnormalities to be born between 1970 and 1980, a total of 39% were diagnosed postnatally until January 1, 1983, and 10% were diagnosed prenatally. It is concluded that there is a great need for training consultants in clinical genetics, expansion and further decentralization of cytogenetic service with more cytogenetic laboratories and employment of clinical geneticists in all 14 Danish counties.

Chromosome Aberrations↗
PubMed1982

Incidence of chromosome abnormalities in newborn children. Comparison between incidences in 1969-1974 and 1980-1982 in the same area.

As part of an ongoing study of the influence of environmental factors on pregnancy, childbirth, and fetuses, comparisons have been made between incidences in 1969-1974 and in 1980-1982 of chromosome aberrations in liveborn children in the same area of Denmark. The incidence of chromosome aberrations in the first period was 2.6 per 1000, compared with 41. per 1000 during the latter period. However, the difference was mainly due to an increase in inversions, and this in turn was due to a difference in chromosome staining methods between the two periods. It is concluded that the Danish study and similar studies in the United States, Canada, and Scotland indicate that early detection of chromosome aberrations by chromosome examination at birth is indicated in order to be able to inform and counsel parents of children with chromosome aberrations. Chromosome examination at birth is also of importance in the diagnosis of structural inheritable chromosome aberrations and consequent family investigation and genetic counseling.

Chromosome Aberrations↗
PubMed1981

Chromosome abnormalities in newborn children. Physical aspects.

A chromosome examination was made on 11,148 consecutively live-born children: 93 had a chromosome abnormality and 192 a chromosome variant. The physical aspects of the children with chromosome abnormalities and variants were compared with those of the children with normal karyotypes. Children with aneuploid or unbalanced chromosome abnormalities were more immature or not fully developed at birth than those with normal karyotypes. Birth weight was lower in children with all types of chromosome abnormalities, including reciprocal translocations and chromosome variants. The low birth weight in children with chromosome variants was mainly due to the low birth weight of children with G variants. These children were also subject to a higher frequency of special delivery treatment. Heart disorders were increased in children with aneuploid or unbalanced chromosome abnormalities. The frequency of foetal erythroblastosis was increased in children with short Y as well as in children with acentric fragments. Neonatal mortality was higher in children with aneuploid or unbalanced chromosome abnormalities than in children with normal karyotypes.

Amniotic Fluid↗
PubMed1979

Electronic data processing in the Danish cytogenetic central register and EDP problems of registers in general.

A brief introduction to the Danish Cytogenetic Central Register (DCCR) is given, and possibilities, principles and problems concerning the establishment and maintenance of a national cytogenetic register are presented. Various data carrier media for registers in general are discussed, of which the magnetic disc is considered most appropriate. General principles for programs capable of performing insertions, deletions and other modifications in the data base are outlined as well as the principles for the programs in the DCCR. The individual records should preferably be identified by aid of a central person registration number (CPR) rather than by name. The data should be stored and sorted by this identification in order to facilitate retrieval of a desired record. The structure of the records is discussed with regard to prevention of the occurrence of certain errors as well as the optimization of processing. Flexibility and economy of space are achieved by using programs able to handle records of unequal length, and problems occurring in connection with this are discussed. The question of how to protect sensitive data is dealt with, and two different methods used in the DCCR are outlined. Programs capable of analyzing karyotypes with the purpose of recognizing various cytogenetic syndromes have been developed for use in the DCCR. Various examples of computing times of typical program runs are presented.

Chromosome Aberrations↗