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Biomedical subjects

J Goujard

Publications and source records attributed to J Goujard.

At least 37 records · Page 2Linked to original sources

Prenatal diagnosis in France.

Prenatal diagnosis (PND) is very developed in France, especially in the area of ultrasound (US) screening. The activity is regulated by law, and laboratories have to be authorized to perform any type of prenatal biological test if the purpose is to diagnose fetal defects. There are 70 cytogenetics laboratories and 50 biochemistry laboratories performing serum marker screening, about half of them being private. PND of chromosomal anomalies is offered to women over 37 years of age, to women who already had a child with a chromosomal anomaly, in case of abnormal US findings, if one of the parents has a balanced chromosomal anomaly and if the risk of chromosomal anomaly is higher than 1:250 according to the serum markers. Half of the trisomy 21 cases are now detected prenatally and pregnancies terminated. Fetal cell sampling is performed by amniocentesis in 70% of cases, by chorionic villus sampling in 7% of cases and by fetal blood sampling in 23% of cases. There are no professional guidelines and no quality assessment networks for any of the techniques in use. PND is regulated by two major laws: the Law on Abortion (1975) and the Law on Bioethics (1994).

Adult↗

[Risk related to methodologically disputable studies: the example of vitamin therapy for the prevention of neural tube defects].

Due to the non acceptance by ethics committees of its double blind controlled study for prevention of neural-tube defects recurrence by vitamin supplementation versus mineral components, a British group underwent methodologically debatable epidemiological study which has become quite controversial. This survey concluded that vitaminotherapy is effective. The aim of this article was to analyze the consequences induced by such a procedure which probably resulted in delaying the onset of the Medical Research Council controlled trial, performed with the necessary rigorous methodology, and which gave the final answer only 11 years later, a time during which concerned women could not take advantage of a valuable preventive treatment.

Ethics, Medical↗

[Occupational exposure to chemical substances and congenital anomalies: state of the art].

Several thousands of compounds with a potential reproductive toxicity have been identified in animals, some of them are teratogens. In humans, only a small number of chemicals, administered as drugs, present in the diet, or in the occupational environment are recognized human teratogens. In parallel, about 60% of congenital anomalies have no identified cause and most probably some compounds present in the environment may contribute to certain anomalies. This paper presents a review of published epidemiological studies on the association between occupational exposures and congenital anomalies, focusing more particularly on some groups of compounds or some occupations such as: anaesthetic gases, laboratory work, solvents, pesticides and lead.

Abnormalities, Drug-Induced↗

Epidemiologic survey of patients treated with growth hormone in France in the period 1959-1990: preliminary results.

Because the delivery of growth hormone (GH) was centralized from 1977 in France, it has been possible to conduct, during the second half of 1990, a nationwide survey of the health status of patients treated with GH from the year 1959. A questionnaire regarding the 5,546 patients recorded for the period 1959-1990 was sent to the prescribers or the patients. 5,418 more or less completely documented reports were obtained. The mean age of the patients at the onset of GH treatment was 11.0 +/- 4.1 years. 1,937 of them had at this time some important disease associated with GH deficiency. The mean duration of treatment was 3.99 +/- 3.05 years. 3,446 patients were still under follow-up. Very recent information (1990-1991) was given for 82.7% of patients, less recent data (1985-1989) for 13.4%. For 3.9%, no data beyond 1985 were obtained. 77 patients had died, 38 from neoplastic disease (mainly recurrence of a primary malignancy), 10 from accident, 3 by suicide, 7 with neurological disease [only 1 case of Creutzfeldt-Jakob disease (CJD) was reported at the time of the survey], the others from various causes. No abnormal frequency of posttreatment leukemia, lymphoma, malignancies, hip diseases, glucose intolerance or other disease focusing attention, was found in the survey. From the time when this survey was completed (December 1990) to that of this report (May 1992), other cases of CJD have been reported in France: 3 ascertained, 7 clinically resembling but not yet certain. These 10 patients were treated for complete GH deficiency, 6 of congenital or neonatal cause and 4 after neurosurgery.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

Maternal occupational exposure and congenital malformations.

A case-referent study was conducted to assess the risk of congenital malformations in relation to maternal occupational exposure before and during pregnancy. Three hundred and twenty-five cases of major malformations and 325 normal (at birth) referents identified in 15 maternity hospitals were included in the study. The occupational history obtained from an interview of the mother was blindly reviewed by an industrial hygienist who assessed the presence of chemical exposure and the probability of exposure. The results suggested that mothers of the case children with oral clefts were more often exposed to solvents during pregnancy [odds ratio (OR) 7.9, 90% confidence interval (90% CI) 1.8-44.9] and worked more often as cleaners (four cases, no referents). Digestive anomalies (OR 11.9, 90% CI 2.0-149) and multiple anomalies (OR 4.5, 90% CI 1.4-16.9) were also associated with occupational exposure to solvents at work. These results were not modified when differences in maternal age, area of residence, and socioeconomic status were taken into account.

Abnormalities, Drug-Induced↗

Heterogeneity of neural tube defects in Europe: the significance of site of defect and presence of other major anomalies in relation to geographic differences in prevalence.

In the period 1980-1987, neural tube defects were two to three times more prevalent in populations covered by EUROCAT registries in the United Kingdom and Ireland (UKI) than in Continental Europe and Malta (CEM). 1864 NTD cases in a total population of 580,000 births in UKI and 455 cases in a population of 380,000 births in CEM were analysed to find if there were differences in the ratio of prevalence rates between UKI and CEM according to site of the defect and association with non-central nervous system (CNS) anomalies. The prevalence rate ratio was high for anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida, and low for encephalocele, lower spina bifida, and anencephaly without other neural tube defects. There was a greater female excess for anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida than for other defects in both geographic areas. There was a female excess for encephalocele in UKI but a male excess in CEM. Certain sites (anencephaly with accompanying spina bifida, iniencephaly, and encephalocele) were more likely to have accompanying non-CNS anomalies. The prevalence rate ratio of multiply malformed NTD was in general lower than for isolated NTD but showed the same pattern by site. The prevalence rate ratio was high for multiply malformed anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida. The sex ratio was similar between isolated and multiply malformed cases when site of the defect is taken into account. It is concluded that the geographic prevalence pattern and sex ratio differ according to site of NTD but do not differ substantially according to whether NTD is isolated or associated with non-CNS anomalies.

Abnormalities, Multiple↗

[Future of premature infants of less than 33 weeks gestational age: results of an inquiry undertaken in 1985 in the Paris region].

Improvements in combining obstetrics and neonatology led to a trend to intervene earlier in premature babies born before the 33rd week of gestational age. The enquiry that was carried out in 1985 in the Paris geographical region had as its objective to assess on the one part how many premature deliveries occurred between the 25th and 33rd week of amenorrhea and on the other hand what happened in the short term to the infants born from these pregnancies, i.e., their mortality; and for those who survived, their quality of life. The study was carried out on a representative sample of the deliveries in 1985 in the four departments of the Paris region--Paris and the three departments of the Petite Couronne--where half of all deliveries were assessed. The enquiry covered 53,430 deliveries for which the overall prematurity rate was 4.5%, and those deliveries that occurred before 33 weeks of gestational age constituted 1.0% (539 babies). Twenty children were lost for follow-up after a year. This was 4.9% of the live births and 6.3% of the live children who left the neonatology centres. At 2 years of age, the numbers that were not followed up were eventually 24, which was 5.8% of live births and 7.6% of those that left the centres of neonatology. The results show a very high rate of antepartum mortality but also of mortality during and after labour. Only 379 infants out of the 539 (70%) were transferred into special care baby units. By 1 year of age, the survivors were 57% of the total number of deliveries and 75% of the live births and 82% of those transferred to the special units. As far as concerned those that were live born, the survival rate at the age of 1 year varied considerably according to the duration of the pregnancy. The number of those that survived a pregnancy of less than 27 weeks was low (31%). It was, at 28 weeks, 53%. This is the age where births have to be registered. It reached 87% of the live births that occurred at 32 weeks. One has to point out that there is no statistically significant difference between 27 and 28 weeks of gestation. Whereas there is a significant difference (p less than 0.05) with those delivered at 29 weeks (75%). 80% of those 291 infants that were examined at 1 year of age were considered to be normal as far as psychomotor and sensorial behaviour was concerned.(ABSTRACT TRUNCATED AT 400 WORDS)

Follow-Up Studies↗

Incidence of congenital rubella syndrome in 19 regions of Europe in 1980-1986.

Twenty-five cases of congenital rubella syndrome were recorded in 1,458,126 live births in 19 EUROCAT birth defects registries from 1980 to 1986. During the study period, the incidence declined steadily from 3.50 to 0.41 per 100,000 births. Rubella infection occurred in 12 multiparous women indicating failure in immunization programme.

Cross-Cultural Comparison↗

Human pituitary growth hormone (hGH) and Creutzfeldt-Jakob disease: results of an epidemiological survey in France, 1986.

An epidemiological inquiry has been done in France after the notification in the USA and England of four cases of Creutzfeldt-Jakob disease in patients previously treated with hGH. Between 1959, when hGH treatment in France was started, and August 1985, the date the survey began, 1698 patients were registered for treatment. Current information (less than three months old) was obtained for 1620 patients (95.4%). Death was reported in 31 patients, but none could be related to Creutzfeldt-Jakob or similar disease. Pathological events were observed in 213 living patients (13.1%). Among them, four were diseases classified as possibly related to a viral infection. The first case had acute lymphoid leukaemia; the second case had polyradiculoneuritis associated with hepatitis. In both cases the disease resolved completely. Two other patients had acute encephalitis which started less than two years after the onset of treatment and which resolved spontaneously. Even though the acute evolution and the spontaneous clinical recovery are not consistent with Creutzfeldt-Jakob disease, a relationship with hGH therapy could not be completely excluded. Finally, five treated children had later malignancies which raises the question of the long-term secondary effects of hGH upon cellular proliferation.

Adolescent↗

[Research on teratogenic risks using a register of congenital malformations].

Etiologic research in the field of congenital malformations, besides specific difficulties, meets the usual methodologic problems in the study of uncommon phenomena. In this situation, registries may be valuable tools due to their specific way of functioning. They appear optimal for an urgent evaluation of an environmental risk. Due to the material available, they are also efficient for analytic research, especially in the frame of international collaboration. This etiological approach, which is not the primary aim of registries of congenital malformations, seems indeed a supplementary contribution to take into account in a cost/benefit evaluation of the epidemiological instrument.

Congenital Abnormalities↗

[Outcome of pregnancy in patients exposed in utero to diethylstilbestrol. Survey by the National College of French Gynecologists and Obstetricians].

This study analyses the outcome of 110 pregnancies that occurred in 57 patients who were exposed to DES (DiEthylStilboestrol) during their fetal life. The quantities of Distilbene that were received in the first trimester of the pregnancy were the same in France and in the United States. The obstetrical complications of exposure in utero to DES were identically the same in France and in the United States. Of particular note is the high level of extra-uterine pregnancies (15%) and of 1st and 2nd trimester miscarriages (42%). Only 41% of the population exposed to DES delivered a live baby. It is estimated that 80,000 women were exposed to it in France. Exposure in utero to DES has given rise to a public health problem.

Abortion, Spontaneous↗