PubMed Health⌕ Search

Biomedical subjects

S Aymé

Publications and source records attributed to S Aymé.

At least 37 records · Page 2Linked to original sources
PubMed1996

[Value of registries in decision making in public health: the example of trisomy 21].

Registries of congenital malformations are excellent tools to evaluate public policies and practices in the field of antenatal screening. The analysis of the data shows that the global prevalence of trisomy 21 (T21) has increased regularly these last years, as expected from the increase in mean maternal age at conception. It has doubled in less than 10 years. The uptake rate of amniocentesis has also increased but not enough to help decrease the prevalence of T21 at birth. The policy of non-reimbursement of the fetal karyotype to women younger than 38, does not convince them not to have an amniocentesis, as a third of them have had a prenatal diagnosis in the class of age 35-37. This absence of financial support is responsible for a social inequity demonstrated by the data. Registries of congenital malformations are observation posts to survey the practices in the field of antenatal screening and diagnosis, area expanding quickly, and strickly controlled in France. Registries are also excellent tools to build-up population-based epidemiological studies.

Adult↗
PubMed1995

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.

Abnormalities, Multiple↗
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

Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome.

We report on a boy with a direct tandem duplication of 9(q12-q33) and dolichocephaly, beaked nose with prominent philtrum, deep-set eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the "trisomy 9q syndrome" described by Turleau et al. [1975].

Abnormalities, Multiple↗
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↗
PubMed1993

Walker-Warburg syndrome: a report of 3 cases.

Walker-Warburg syndrome is a congenital malformation syndrome of unknown etiology which is characterized by fatal neurological lesions. It was first described by Walker in 1942 as involving agyria, hydrocephalus and eye malformations. Its etiology has been discussed in all of the articles on the subject in the literature, but the majority of the authors describe it as an autosomal recessive syndrome. Ultrasonography plays a key role in detecting a cephalic anomaly by prenatal diagnosis as in our 2 cases. The aim of this article is to report 3 new cases of Walker-Warburg syndrome in two families. Knowledge of this syndrome emphasizes both the need for ultrasonographic observation and genetic counselling for families at risk.

Abnormalities, Multiple↗
PubMed1993

[Evaluation of trisomy 21 risk by serial determination of chorionic gonadotrophin hormone and alpha-fetoprotein: results of a national pilot study].

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.

Adult↗
PubMed1992

Prenatal diagnosis of Fryns' syndrome.

We report on a new case of ultrasonographic prenatal diagnosis of Fryns' syndrome during the second pregnancy of a young woman whose first child died 90 min after birth and was diagnosed as having this autosomal recessive condition. The feasibility of diagnosis in utero and timing in the phenotypic expression of this multimalformation syndrome are discussed.

Abnormalities, Multiple↗
PubMed1992

Phenotype-genotype correlations in X linked retinitis pigmentosa.

Retinitis pigmentosa (RP) represents a group of clinically heterogeneous retinal degenerations in which all modes of inheritance have been described. We have previously found two different clinical profiles in X linked RP as a function of age and mode of onset. The first clinical form has very early onset with severe myopia. The second form starts later with night blindness with mild myopia or none. At least two genes have been identified in X linked forms, namely RP2 (linked to DXS7, DXS255, and DXS14) and RP3 (linked to DXS84 and OTC) on the short arm of the X chromosome. In order to contribute to phenotype-genotype correlations in X linked RP, we tested the hypothesis that the two clinical profiles could be accounted for by the two different gene loci. The present study provides evidence for linkage of the clinical form with early myopia as the onset symptom with the RP2 gene (pairwise linkage to DXS255: Z = 3.13 at theta = 0), while the clinical form with later night blindness as the onset symptom is linked to the RP3 gene (pairwise linkage to OTC: Z = 4.16 at theta = 0).

Female↗
PubMed1992

New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.

Two siblings with a previously undescribed syndrome are presented. They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (Coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. The fetus was 46,XX and very similar to the first case.

Abnormalities, Multiple↗
PubMed1992

[Antenatal surveillance and risks of prematurity and fetal growth retardation].

The essential aim of this work was to investigate the relationship between antenatal care and preterm delivery or low birth weight. This study has been done by means of a case-control survey carried out among 435 women who delivered in 4 Maternity Hospitals in Aix-en-Provence-Pertuis area, between November 20th, 1987 and September 30th, 1988. Cases consisted of 124 women having delivered single livebirths before 37 weeks' gestation and 69 women having delivered, at term, single livebirths weighting less than 2,500 g. Controls were 242 women who delivered normal single livebirths. Results showed that, within the geographic area of the study, low birth weight and preterm delivery rates were respectively 6% and 5.4%. Antenatal care was generally according to medical profession recommendations: average number of visits: 7.9; first visit achieved, for 98.8% of women, within first trimester; intervention of a specialist in 97.1% of pregnancies; average number of ultrasound examinations: 3.5. Only mothers of low birthweight infants had more often an inadequate antenatal care (OR = 2.63, 95% confidence interval: 1.22-5.70). The risk factors for low birth weight were: previous history of preterm and/or low birth weight delivery, single marital status, low lever father's education, smoking during pregnancy, no contact with maternity team and for preterm delivery: previous history of preterm and/or low birth weight delivery, complications during the penultimate pregnancy, hypertension, metrorragies. These results suggest that it seems unlikely, in the future, to decrease unfavorable pregnancy outcomes by increasing antenatal care.

Case-Control Studies↗
PubMed1992

Cerebrofaciothoracic dysplasia: a new family.

We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs, enlarged cerebral ventricles and septum pellucidum, mental retardation, and affable behaviour. The features are similar to those previously described in three unrelated children and may represent new cases of cerebrofaciothoracic dysplasia.

Abnormalities, Multiple↗