A survey of diagnostic amniocenteses in Oxford from 1974–1981

A survey was conducted of the results of mid-trimester diagnostic amniocenteses in the Oxford Region from 1974 to 1981. The survey used data relating to all 4357 singleton pregnancies in which an amniocentesis was performed during this period. Follow-up information on outcome was obtained in respect of 4284 (98 per cent) pregnancies. A cell culture to determine karyotype and an alpha-fetoprotein determination was carried out in all cases. From 1974 to 1981 amniocenteses became increasingly common, rising from 2 to 32 per 1000 births. The most common indication for amniocentesis was a high risk of a chromosome abnormality–56 per cent of all amniocenteses. Within this group advanced maternal age was responsible for 89 per cent of the cases. The next most common indication was a high risk of a neural tube defect (37 per cent of all amniocenteses)–in 1974 a raised maternal serum alpha-fetoprotein level accounted for only 4 per cent of these; by 1981 this had risen to 67 per cent. There were seven false-positive and 132 true-positive diagnoses of neural tube defect; since 1981, with the introduction of amniotic fluid acetylocholinesterase determination as a secondary diagnostic test for neural tube defects, there have been no further false-positive diagnoses. In 1981 76 per cent of women aged 35 years or more did not have an amniocentesis. It is not known to what extent this was due to not offering women in this age group amniocentesis or to women not accepting such an offer.     

Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination

Sex chromosome aneuploidy (SCA), when detected in amniocentesis, is usually an unexpected result of a test carried out for another purpose. For most SCAs, the prognosis is milder and less predictable than trisomy 21, and therefore parents are faced with a difficult decision regarding the option of pregnancy termination. While studies from Europe and the USA report a declining trend in termination rates for SCA, our local experience is different. During the period 1989–1998, we diagnosed 60 SCA (including mosaics) in 20 106 amniocenteses (0.29%) and 48 (80%) of these pregnancies were terminated, a significantly higher proportion than has been reported in Europe and the USA. The present study shows that the difference between our experience and others' may be related to differences in cultural norms and values. Thirty women were interviewed, of whom 23 terminated and seven continued the pregnancy. Interview analyses showed that the main reason behind the decision to terminate the pregnancy was associated with the parents' fear of non-specific abnormality of the child, and concerns about abnormal sexual development. Although genetic counseling practised in our center aims to be non-directive, 56% of the women reported that the counseling was either directive towards termination, or that they at least felt that the counselor's attitude was pro-termination. Most women (93%) reported themselves as having come to terms with their decision. Copyright © 2001 John Wiley & Sons, Ltd.     

Physicians' acceptability of termination of pregnancy after prenatal diagnosis in southern france

The acceptability of prenatal diagnosis for Down's syndrome has been extensively studied over the last 15 years but that of other pathologies remains largely unexplored. The main goals of this study were to approach physicians' opinions on six reasons for termination of pregnancy showing different deficiencies, i.e., Down's, Turner and Klinefelter syndromes, cystic fibrosis, spina bifida, and haemophilia, and to identify the origins of reserves. The influence of sociodemographic and professional characteristics of physicians on their opinions and attitudes during the consultation were studied. The data presented are based on information gathered in 1985 by a mailed questionnaire answered by 853 general practitioners, gynaecologists, obstetricians, and pediatricians in the Marseilles Genetic Centre's region. Stepwise logistic regression was used for the multivariate analysis. The results showed that 78 per cent of those answering favour termination of pregnancy for Down's syndrome and that only moral reticences were mentioned by the physicians opposed. Conversely, for haemophilia, only 21 per cent of the physicians considered this indication justified; those opposed were for the most part concerned that severity of illness did not justify termination of pregnancy. Overall, 33 per cent of physicians would voice their personal opinion on termination of pregnancy if so requested by consultees. Results on the influence of age and specialty evidenced their role on physicians' opinions. Indeed, 30 per cent of physicians opposed to pregnancy termination for one of the six fetal anomalies retained herein would modify their positions if diagnosis were possible in the first trimester of pregnancy.