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C Julian-Reynier

Publications and source records attributed to C Julian-Reynier.

36 records · Page 2Linked to original sources
PubMed1999

French physicians' knowledge about hereditary breast/ovarian cancer: the need for continuing vocational training in genetics.

OBJECTIVES: The aim of this study was to determine what medical specialists knew about recent findings in the genetics of breast/ovarian cancer, according to their speciality and the methods they used to keep themselves up to date. METHODS: A national random sample of 1,169 surgeons and gynaeco-obstetricians was surveyed using a mailed questionnaire, to which 700 of those contacted responded (60%). RESULTS: Two years after it had been identified, BRCA1 was known by only 54% of the practitioners, whereas BRCA2 was known by 49.1% 1 year after it was first identified. The lifetime breast cancer risk of women in the general population was estimated by 37.6% of the participants to be between 6 and 10%, and 35.7% rated the penetrance of a breast cancer mutated gene at between 70 and 90%. After multivariate adjustment, the overall score for knowledge of hereditary breast/ovarian cancer was mainly determined as follows: by the speciality (p < 0.001), since the gynaeco-obstetricians scored the highest and the general surgeons the lowest; by the size of practice (p < 0.001), since a larger practice was associated with a higher score, and by whether or not the participants were accustomed to reading the international literature (p < 0.01). CONCLUSIONS: These results show the need for physicians who are not geneticists to acquire further knowledge about cancer genetics. We discuss the role of international reviews in communicating the latest knowledge available in genetics to specialists working in other medical fields.

Journal Article↗
PubMed1998

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.

Attitude to Health↗
PubMed1998

Adoption and fostering of babies with Down syndrome: a cohort of 593 cases.

Recently, professionals in France have noticed an increase in newborns with Down syndrome (DS) being placed for adoption. The aim of this study was to investigate DS babies given up at birth for adoption and to consider the possible determinants of this in order to assess social acceptance of DS. A retrospective cohort of all living DS babies was collected from two birth-defect registries (Paris: 1981-1990; Marseilles area: 1984-1990). Follow-up data were collected: characteristics of the baby, biological parents and maternity units, age when given up for adoption, and type of foster care. The results showed that 19.4 per cent of infants with DS (115/593) were rejected by their parents. Multiple regression analysis indicated that foreign origin of the mother, area of residence, no associated major malformation, maternal age (15-24 years), and birth rank (> 2) variables were significantly associated with a lower placement rate. Among the 115 abandoned infants with DS, 88 came from unknown parentage (76.5 per cent). For half of them, adoptive placement (88/115) occurred before the age of 6 months. Socio-cultural attitudes play a great part in these family decisions. Equally important is the manner in which professionals propose adoption as an alternative to these parents of DS babies. They should be encouraged to consider all options before making a decision, so that the best solution can be found for the interest of all.

Adolescent↗
PubMed1998

[Measurement of anxiety state in women: a short-form scale].

BACKGROUND: Clinical epidemiology and psychosocial studies often take into account the measurement of anxiety. Our objective was to develop and validate a short form scale of anxiety state from the Spielberger's State Trait Anxiety Inventory (STAI-Y), one of the most widely used scales. METHODS: This study was carried out on French samples of women with different levels of anxiety. The first step was to select from the original 20-items scale, the items susceptible to compose two short forms scales: an 8-items (18-STAI) and a 5-items (15-STAI) one. It was carried out on patients attending cancer genetic clinics (n1 = 160, n2 = 41). The second step was carried out on 3 other samples of women (n3 = 150, n4 = 167, n5 = 105) and measured the psychometric characteristics of the short-form scales obtained previously. RESULTS: The correlation coefficients between the short-forms and the complete 20-items form were very high (> 0.90) in particular for the 18-STAI (r > 0.95). Both short forms are sensitive to change. The internal consistency measured by Cronbach-alpha was comparable to the original scale. The results obtained with the 18 scale and another 10 items Spielberger's short-form scale are comparable and better than those with the 15 scale. CONCLUSION: The 18 French short-form scale, balanced with positive and negative items, can be recommended for the measurement of state anxiety when the complete form cannot be used.

Adult↗
PubMed1996

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.

Adult↗
PubMed1996

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.

Adult↗
PubMed1996

[Attitudes towards screening and prevention of breast and ovarian cancers with hereditary predisposition. Survey by female gynecologists in the north of France].

Search for mutations of BRCA1 in women at hereditary risk for cancer is now possible. We asked the female gynaecologists of our county (north of France) their opinion about the search of a mutation of BRCA1 if they had a familial risk of breast cancer. Our aim was to obtain the opinion of informed women about their willingness to do the test for themselves and about the consequences they should accept. One hundred and eighty-three women received a questionnaire by post. The response rate was 56.3%. Twenty-four percent of the responders had a first degree relative with breast cancer. Most of the responders (87.4%; IC 95%: 81-93.8) would ask for the search of a mutation of BRCA1. The percentage of women who would accept the test is smaller for the women who have a first degree relative with breast cancer (72.0% vs 92.3%; P = 0.02). The reasons given to do the test were a better screening or prevention (69.7%) and the knowledge of a personal risk (49.4%). For breast cancer, 93.2% (95% CI: 88.4-98) would accept a screening protocol, 30.1% (CI: 21.3-38.9) would accept a prophylactic bilateral mastectomy. For ovarian cancer, 93.2% (CI: 88.4-98) would accept the screening, 52.4% (CI: 42.8-62) would accept a prophylactic ovariectomy. In conclusion, most of the informed women would ask for the test and the surgical options for reducing the risk of cancer are not absolutely rejected. Of course, only future studies will state precisely the choice of truly implicated women.

Adult↗
PubMed1996

[Screening practices and familial antecedents of colorectal cancer. Survey with a voluntary population].

OBJECTIVES: To analyze the association between colorectal cancer positive family history and screening practices. METHODS: The study concerned 6733 individuals attending a center for periodic health examination. RESULTS: Five hundred fifty four patients (8.2%) declared a positive family history of colorectal cancer; 269 (4%) were first degree relatives of the affected member and among them, 73 (1.1%) have pointed out the occurrence of at least one cancer case below age 50. Out of 554 subjects with a family history (regardless the degree of kinship), 132 (23.8%) have had an endoscopic examination versus 8.9% of subjects without positive family history. The rate of endoscopy increased with the number of cases in a family (P < 0.0001). CONCLUSION: Family members undertake more endoscopic examinations when a family history of colorectal is reported. A correlation with the number of affected relatives has been found.

Adult↗
PubMed1995

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.

Abortion, Induced↗
PubMed1994

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.

Abortion, Induced↗
PubMed1994

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.

Abnormalities, Multiple↗
PubMed1994

[Prenatal diagnosis: perceptions of women concerning their pregnancies].

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.

Adolescent↗
PubMed1993

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.

Abortion, Therapeutic↗
PubMedDate not supplied

Uptake of hereditary breast/ovarian cancer genetic testing in a French national sample of BRCA1 families. The French Cancer Genetic Network.

Due to the technical difficulties involved in identifying BRCA1/2 genetic mutations, the affected patients have to be investigated before testing can be made available to all the relatives at risk. Here, we studied the attendance rates at cancer genetic clinics (CGC) and the uptake of genetic testing in first/second degree relatives after the first BRCA1 mutated woman with cancer had been informed in the family. We carried out a survey on French cancer geneticists involved in breast/ovarian CGC, asking them to select their first three BRCA1 family records. Data collection was carried out retrospectively by telephone interview with a standardised closed item questionnaire. Considering only those families (n = 37) where the index case had been informed for at least 8 months at the time of the survey, the overall attendance at CGC of first/second degree relatives (n = 419) was 31.7% (n = 133) and the overall uptake of BRCA1 testing was 26.7% (n = 112). Among those who attended the CGC (n = 133), 84.2% (n = 112) requested genetic testing (95% confidence interval: 78-90.4%). Among the first degree relatives, the unaffected women who attended accounted for 59.8% and 51.2% requested testing after the index case had been informed. Women with cancer had a higher attendance rate (83.3%) than unaffected women (36.1%) (Odds Ratio (OR) = 8.86; p < 0.001) and first degree relatives (51.4%) than second degree relatives (17.9%) (OR = 2.87; p < 0.001); women (43%) also attended more frequently than men (16%) (OR = 3.97, p < 0.001). In French BRCA1 mutated families, female first degree relatives of the index patient show the most interest in genetic testing.

Adult↗
PubMedDate not supplied

Fetal abnormalities detected by sonography in low-risk pregnancies: discrepancies between pre- and post-termination findings.

In this geographically based study the findings on 158 abnormal fetuses, primarily diagnosed by routine antenatal ultrasound, are correlated with the results of the examinations subsequently carried out by a fetopathologist and a clinical geneticist. Ninety fetuses (57%) had a single malformation, 66 were polymalformed (42%) and 2 had no malformations. In 90% of all these cases, the prenatally and postnatally detected anomalies were identical; in 3% the defect established at necropsy was different from that diagnosed prenatally, and in 7% the predicted anomaly was absent. These values did not depend on whether single or multiple malformations were involved. In 57% of the polymalformed cases, however, the ultrasound examination missed at least one other diagnosable anomaly. On the basis of pathological and clinical genetic expertise, a risk of recurrence of the anomaly was revised in 13% of the single malformed cases and in 53% of the multiple ones, i.e., in 30% of all the cases of malformation on average. This study confirms the need for the fetus to be examined by a pathologist and a clinical geneticist after termination of a not 'at risk' pregnancy in order to check the accuracy of the sonographic procedure, to confirm the reasons for terminating the pregnancy to the parents, and to be able to monitor the next pregnancy based on an accurate assessment of the risk of recurrence.

Abnormalities, Multiple↗
PubMedDate not supplied

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.

Anxiety↗