[Spontaneous abortions and stillbirths in relation to prenatal examinations in Denmark. Report from the Cytogenetic Central Register].
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Biomedical subjects
Publications and source records attributed to J Philip.
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As part of the Department of Health's National Breast Screening Trial a seven year study is in progress in Huddersfield to assess the effect of an educational programme in Breast Self Examination (BSE) on the mortality due to breast cancer among women aged 45-64. The initial cohort of 22,484 women have completed 3 years in the study and show a higher than expected annual incidence rate of breast cancer. There is no significant difference in the incidence rates between those who attended meetings for BSE instruction and those who did not. Similarly there is no difference in stages of presentation of cancers between attenders and non-attenders at these meetings and also between cancers detected in the first, second and third years. Those who discovered abnormalities during self examination, however, presented with smaller lumps compared to other women. Assessment of prognostic factors do not at this time provide sufficient evidence to show that a community-base BSE campaign will result in a significant improvement in the stage of breast cancer presentation.
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The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2.4). Women with a known familial translocation and women 40 years or more have a relative risk of 5.7 of having an unbalanced chromosome abnormality compared with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications for amniocentesis should therefore be reconsidered. Because it must be considered impractical and ethically wrong to limit amniocentesis to the two mentioned real high risk groups, and illogical to continue to present policy, which is not based on clearcut evidence, the possibility of offering amniocentesis to all who want it, is discussed. Screening for chromosome disease in all pregnancies is not without problems, but may be reasonable in some localities.
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The radiological features of breast biopsy specimens can be visualized clearly if the specimens are X-rayed in water. This makes it possible to demonstrate on specimen radiographs lesions causing tissue distortions without calcification. By positioning the specimen correctly in water and by obtaining radiographs in two planes, the exact site of a small lesion within a large tissue mass can be demonstrated and the site marked to guide the pathologist to the suspect area.
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Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis impossible; and in two, the mother aborted spontaneously. From the remaining 16 male foetuses, blood samples were obtained in utero in the 17th to 20th week of gestation. Examination of the samples showed that 11 of the foetuses were unaffected and five affected. Haemophilia B. Three carriers of haemophilia B had male foetuses. Examination of foetal blood obtained in utero showed that these three foetuses were affected. Confirmation. All women with an affected foetus requested termination of pregnancy. In one of the cases of abortion, no blood was obtained for confirmative examination. In the remaining cases, the prenatal prediction was confirmed in the abortus or in the child after birth; three women are still pregnant.
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We report three cases of Turner's syndrome with cystic hygromata, which were diagnosed by routine ultrasound scanning before amniocentesis in the second trimester of pregnancy. Maternal and amniotic level of alpha-fetoprotein were normal. Karyotyping carried out afterwards showed a 45,X karyotype. Our data indicate, that cystic hygromata in Turner's syndrome may coexist with a normal amniotic fluid AFP, thus questioning the theory of leakage from the hygroma. It remains to be investigated if all cases of Turner's syndrome present a cystic hygroma in utero.