Comparison of physicians' and cancer prone women's attitudes about breast/ovarian prophylactic surgery. Results from two national surveys.

Prophylactic surgery is a major issue for breast/ovarian cancer prone women. Bio-clinical data to help in the decision-making are not sufficient. In this context of uncertainty, physicians' and women's attitudes to prophylactic surgery is information of great value. The physicians' attitudes were assessed by a randomised national sample of practitioners involved in breast and ovarian cancer management. The patients' attitudes were appraised with a pre-consultation self- administered questionnaire presented during a one-year period to all women in five cancer genetic clinics chosen, for their representative geographical locations and their activity level. Consent to prophylactic surgery is higher among physicians than among patients (p < 0.0001). Acceptability of mastectomy is lower than that of oophorectomy in both patients and physicians (p < 0.0001 in both groups). In addition, age at which the intervention is proposed to be performed is a key determinant for both mastectomy and oophorectomy acceptability, in both physicians and patients (p < 0.001 for each comparison). Particularly, the age of 40 years seems to be a critical threshold for the acceptability of prophylactic oophorectomy. In contrast, respondents' age at the time of the survey has no significant effect on the acceptability rate. The higher acceptability rate of prophylactic oophorectomy compared to that of mastectomy observed in the physicians' survey is paradoxical because a more substantial medical impact on life expectancy was expected from the latter. Our results indicate that assumed reduced mortality is not the main criterion steering acceptability. It was anticipated that prophylactic mastectomy should be rarely performed in France.

Disclosure to the family of breast/ovarian cancer genetic test results: patient's willingness and associated factors.

Informed probands are key actors for disclosing genetic information to their relatives when a mutation has been identified in the family. The objectives were to study women's attitudes towards the family disclosure of positive breast cancer genetic testing results and to determine the predictive factors of the diffusion patterns observed. A national multi-center cross-sectional survey was carried out at five French cancer genetic clinics during a 1-year period. Self-administered questionnaires were completed after the consultation by 84.5% (398/471) of women attending breast cancer genetic clinics for the first time. Among the 383 respondents who had at least one living first-degree relative to inform, 8.6% would inform none, 33.2% would inform at least one of them, and 58.2% would inform all of them. The sibship would be the most frequently informed blood relatives, sisters in 86.9% and brothers in 79% compared with mother in 71.4%, children in 70.4%, and father in 64.9%. Women of the family would be more frequently informed than men (P < 0.05). After multivariate adjustment, age, the fact to be affected by cancer, the number of daughters, and the emotional disturbance due to cancer in a close relationship were the main determinants (P < 0.05) of the diffusion patterns observed. The first step of the relatives' attendance to genetic counseling and the proband's willingness to disclose breast cancer genetic tests results was high in this study and was clearly dependent on the women's personal and emotional characteristics.

Time elapsing from cancer diagnosis and anxiety in women attending cancer genetic clinics.

The aim of this study was to investigate the effects of cancer genetic consultations on feelings of anxiety in women with breast/ovarian cancer. Among the 138 women attending six French clinics during a one-year period, 115 (83.3%) answered pre- and post-consultation questionnaires. The state anxiety score (Spielberger's STAI) was lower (paired t-test, p<0.001) after the consultation (34.7 9.4) than before (38.8 10.5). The time elapsing since cancer diagnosis (r=-0.28, p=0.007) was the main predictor of the decrease in anxiety. The patients consulting earlier after their cancer was diagnosed were more anxious before the consultation than those consulting later: whereas their anxiety states after the consultation were similar. The consultation effectively decreased the anxiety observed and the anxiety felt by cancer patients before the consultation may constitute an anticipatory stress response that should be investigated.

Cancer genetic clinics: why do women who already have cancer attend?

Cancer patients attend oncogenetic clinics so that the existence of a genetic risk can be checked and the relatives informed. The aim of this study was to describe the expectations of cancer patients about genetic counselling and their beliefs about the aetiology of their disease. A survey based on self-administered questionnaires before and after the consultation was carried out on 115 women with breast/ovarian cancer who attended one of the six French participating clinics. In 59 cases (51%), the consultees' expectations focused on the preventive options available and in 86 cases (75%) on their offspring; 87 (76%) found the consultation informative. On average, the women rated heredity and diet as lower risk factors (P < 0.05) after the consultation than before. Heredity, stress and the environment were thought to be more decisive than diet, smoking and alcohol. 34 patients who seemed unlikely to have a genetic risk in the consultant's opinion thought heredity to be less relevant (P < 0.05) after the consultation than before. At the time of the survey, cancer patients accounted for at least half of the consultees attending oncogenetic clinics in France. They need to have the clinical specificities of their disease and its medical management explained. They attend mainly for their offspring's sake, whereas healthy clients attend for their own sake.

Attitudes towards cancer predictive testing and transmission of information to the family.

Before the organisation of breast cancer predictive testing in France, consultands' attitudes towards this kind of testing and towards passing on information about the family cancer risk to their relatives were investigated. This survey was carried out from January 1994 to January 1995 at six specialised cancer genetic clinics located in different parts of France Female consultands who were first degree relatives of cancer patients and who had at least one case of breast cancer in their family, affecting either themselves or a first degree relative or both, participated in this study. Among the 248 eligible consultands attending the clinics during the study period, 84.3% answered a post-consultation questionnaire. Among the 209 respondents, 40.7% (n = 85) were cancer patients and 59.3% (n = 124) were healthy consultands. A high consensus in favour of genetic testing was noted, since 87.7% of the sample stated that they would ask for breast cancer gene testing if this test became available. The underlying assumption of 96.6% of the women was that their health surveillance would be improved after a positive test. A high awareness of the anxiety that would be generated in a family after a positive result was observed and found to be associated (p < 0.05) with the anxiety and depressive profiles of the patients. Half of the healthy respondents said they would not change their attitude towards screening if the results of predictive testing turned out to be negative. Only 13.7% of the 161 patients who stated that the oncogeneticists asked them to contact their relatives firmly refused to do so, mainly because of difficult family relationships.

Cancer genetics clinics: target population and consultees' expectations.

The aim of this study was to determine in healthy consultees attending cancer genetics clinics their risk status, their pathways leading to the clinics, their expectations and perception of cancer risk. In 1994, the consultees at six French centres completed a questionnaire before their first oncogenetic consultation. The oncogeneticists subsequently filled in a standardised form giving their risk assessment. Among the 206 healthy consultees, 91.3% were women, 92.2% had at least one cancer-affected first-degree relative and 73% had a "cancer family risk" as assessed by the oncogeneticist. Sixty-nine per cent of the consultees were referred to the clinics by a physician, 10.4% by their family and 18.8% on their own initiative: 83.5% of the sample perceived their family risk of cancer as being high and this belief was confirmed in 74.3% of the cases studied by the oncogeneticist. The families of self-referred consultees were less often at risk than those of consultees referred by a physician or by their family (P = 0.012). The majority (78%) expected to be informed about cancer prevention and screening, and this expectation depended on the consultee's level of education (P = 0.001). This study shows that medical pathways are more effective than the media as a means of reaching the members of the general population who are genuinely at risk, and shows that fuller information about prevention needs to be provided at cancer genetic consultations.

Attitudes towards Down's syndrome: follow up of a cohort of 280 cases.

A follow up study of a cohort of 280 Down's syndrome (DS) fetuses was initiated in order to estimate the percentage of terminations of pregnancy, the prevalence at birth, the survival of DS children, the attitude of the parents at birth, and the medical and surgical care provided. The present study is a preliminary analysis of the data collected up to the age of 1 year. It shows that 43% of the 280 DS fetuses had died by the end of the first year of life, owing to termination of pregnancy (27%), late spontaneous abortion or stillbirth (4%), or death during the first year of life (12%). Among the 33 children who died, 12 had a common atrioventricular canal, six had another major malformation, three died from infection, one from respiratory distress, two were cot deaths, and one was an infanticide, but eight deaths were unexplained, occurring in children with no known malformation or disease. Among the 185 children still alive after 2 days, 23 (12%) were available for adoption, their mothers having elected to remain anonymous. These results show that in some instances parents or professionals feel justified on one hand in not providing DS children with the necessary care and on the other hand to transfer their responsibilities to the public health system. The influence of prenatal diagnosis of chromosome disorders as a determining factor of the social acceptance of DS is still questionable.

Reasons for women's non-uptake of amniocentesis.

More than 10 years after a chromosomal anomaly screening programme was set up in France for pregnant women of advanced age, amniocentesis is still a controversial issue. The reasons why eligible women did not utilize the test and whether or not the existence of social welfare coverage determined women's access to prenatal diagnosis were studied. A group of 291 women aged > or = 35 years who recently gave birth to normal liveborns was interviewed by telephone. Among those aged 38 years and over, who automatically qualified for social security coverage, 75 per cent had undergone amniocentesis as opposed to 23 per cent in the 35 to 37-year-old non-covered age group who did not qualify for social security coverage. In both groups, access to amniocentesis was found to depend on the physicians', women's and male partners' attitudes towards prenatal diagnosis and abortion. Among the younger group, the uptake depended mainly on socio-economic factors. Institutional policies should ensure greater equality of access while allowing for individual preferences.

Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France.

STUDY OBJECTIVE: The aims were (1) to assess whether termination of pregnancy after prenatal screening by ultrasound affected the prevalence of congenital anomalies at birth, and (2) to examine the trend of this pattern over time. DESIGN: This study deals with congenital anomalies, possibly detectable prenatally or at birth, which were classified as isolated and multiple anomalies; chromosomal anomalies were not included. The prevalence rates of congenital anomalies at birth were determined from case registration data in the Marseille district, France, from the registry of congenital malformations (Eurocat no 22), which covers 23,500 births a year. The chi 2 test for homogeneity in proportions was used to test whether the differences in the total prevalence rates were significant over time. SETTING: The population was defined as all children born to parents living in the Marseille district between January 1 1984 and December 31 1990. PATIENTS: Among the 164,509 pregnancy outcomes monitored during the study, 1795 children with a single congenital anomaly and 288 with multiple congenital anomalies detectable at birth were assessed. MEASUREMENTS AND MAIN RESULTS: The percentage of pregnancy terminations was higher in the case of multiple anomalies (16%) than with single ones (7.5%). Leaving aside the lethal birth defects, this percentage became 7.9% in the case of multiple anomalies and 4.3% with isolated ones. A significant increase (p < 0.001) occurred over the seven year study period in the total percentage of terminations because of isolated anomalies but not in that involving multiple ones. The increase observed in the former case was found to be mainly attributable to an increase in the number of terminations of pregnancy undertaken because of anomalies which were either lethal or associated with very low survival rates (p < 0.001). CONCLUSIONS: Termination of pregnancy after prenatal ultrasound examination was found to have a definite impact on the prevalence at birth of lethal and congenital anomalies with a low survival rate, and this impact tended to increase over time. No such impact was observed in the case of congenital anomalies associated with high survival rates.

[Prenatal diagnosis: perceptions of women concerning their pregnancies]. / Diagnostic prénatal: connaissances des femmes à l'issue de leur grossesse.

After a pregnancy with a normal outcome what are women's perception and knowledge of prenatal tests performances? A survey was carried out during 1990, in the Bouches-du-Rhône area, on a representative sample of French speaking women who had just delivered a normal liveborn. The participation rate was 80% and the mean maternal age was 28.9. On average, 5 (4.7-5.1) prenatal ultrasound scans were carried out per pregnancy and 93% of the women thought that the main interest of this exam performed during the 4-5th month of pregnancy was to confirm that the foetus was normal; only 9% answered that when the scan was normal one could be sure that the fetus was normal. Among those responding, 87% were informed about the existence and the goal of amniocentesis: media were the first source of information about the test in 42%. The level of education was the major determinant of women's knowledge and this factor should be taken into account by the practitioner during the prenatal surveillance.

Attitudes of women of childbearing age towards prenatal diagnosis in southeastern France.

The objective of this study was to explore women's attitudes towards prenatal diagnosis of trisomy 21 and to examine some of the factors possibly responsible for these attitudes before implementing in real practice serological screening of pregnant women at risk for trisomy 21. We carried out a telephone survey on a representative sample of women who had recently had a normal livebirth delivery in the Marseille district in 1990. The participation rate was 80 per cent and the average age of the mothers was 28.9 years. Among the 514 women interviewed, 78 per cent stated that they would ask for an amniocentesis for a 1 per cent risk of trisomy 21 at their next pregnancy. When adjusting for confounding factors, the decision to have or not to have an amniocentesis was found to depend not only on the women's attitude towards induced abortion, but also on their understanding of the risk involved and on the social context (knowing a handicapped child, discussion with the father). It also depended on the women's age and on what they knew about amniocentesis from the medical point of view. The risk of miscarriage can influence a woman's choice but this objection was not found to affect the women's decisions significantly in our survey. The data showed the existence of a high potential demand for fetal karyotyping.

PIP: In southeastern France, 514 women aged 19-38 years who had recently delivered a normal infant at one of 19 public and private maternity hospitals in the Marseille district participated in a telephone survey designed to examine their attitudes towards amniocentesis and some factors influencing their attitude. Researchers wanted the results of this survey before implementing a serologic screening of pregnant women at risk for trisomy 21. 77.6% of the women said they would request an amniocentesis if they had a 1% risk of bearing a child with Down's syndrome at their next pregnancy. The multiple regression analysis revealed that age was the only significant factor among the cultural, sociodemographic, and reproductive factors examined which affected the acceptability of the test. Women who knew handicapped children were more likely to refuse the test than those who did not know such children (odds ratio [OR] = 0.45; p = 0.003). Mothers who talked to the father about the possibility of having a handicapped child were more likely to agree to have amniocentesis than those who did not (OR = 1.71; p = 0.03). Understanding the risk of trisomy 21 significantly influenced the acceptability of amniocentesis (OR - 1.82; p = 0.0193). The best predictive variable of acceptability of amniocentesis was desire for an induced abortion of a Down's syndrome fetus (OR = 6.16; p = 0.0001). A 1% risk of miscarriage negatively affected women's acceptability of amniocentesis, but the effective was not significant. 47% of all women believed induced abortion is justified in the case of a severely malformed fetus. 42% supported euthanasia at the birth of a severely malformed newborn. These findings suggested that the potential demand for prenatal diagnosis of chromosomal anomalies after serological screening would likely be very high.

[Evaluation of trisomy 21 risk by serial determination of chorionic gonadotrophin hormone and alpha-fetoprotein: results of a national pilot study]. / Evaluation du risque de trisomie 21 par dosage sérique de l'hormone gonadotrophique chorionique et de l'alpha-foetoprotéine: résultats de l'enquête pilote nationale.

Previous studies, as early as 1984, have demonstrated the efficiency of maternal serum markers to screen for Down syndrome. These markers were AFP, hCG, oestriol and beta-1-glycoprotein. A pilot study was initiated in France in 1990 to evaluate these markers. It lasted from May 1990 until April 1991. 22,410 pregnancies were monitored in total, and 19,407 for women between 30 and 37 years of age. The pregnancy outcome was known for 20,151 cases (86.6%). Sensitivity and predictive value of the test was calculated on 17,362 dosages which outcome was known. The sensitivity based on hCG only was 59.4% (38/64) for trisomy 21 and positive predictive value 1.65% (38/2,307). This test is a better marker than maternal age. In the pilot study it induced a 13.2% rate of amniocentesis. If the risk was calculated using both hCG and AFP results, the performances of the test were better. At equal rate of amniocentesis, the double test increases the sensitivity (+9.5% at risk 1/200, +7% at risk 1/250, +14.4% at risk (1/350). The strategy of double dosages decreases the number of amniocentesis for a given sensitivity rate. This decrease is more spectacular for high levels of sensitivity. This pilot study confirms already published results. Maternal serum markers are the best tools, combined with maternal age to evaluate the risk of trisomy 21.