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.
The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. Since that date, 20 patients have been reported in the literature. We describe 8 new cases, 6 of which were diagnosed in a series of 112276 consecutive births (livebirths and perinatal deaths). The prevalence of this syndrome can be estimated to be around 0.7 per 10000 births. These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects (septal defects and aortic arch anomalies), renal cysts (type II, III or IV), urinary tract malformations, and distal limb hypoplasia. Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). The digestive tract is also often abnormal: duodenal atresia, pyloric hyperplasia, malrotation and common mesentery are present in half of the patients. When the brain was examined, more than half were abnormal (Dandy‐Walker anomaly and agenesis of corpus callosum). A few patients demonstrated cloudy cornea. We examined the eyes of three patients histologically: two of them showed retinal dysplasia with rosettes and gliosis of the retina, thickness of posterior capsula of lens and irregularities of the Bowman membrane. Four of our cases were diagnosed prenatally between 24 and 27 weeks. It is to be expected that prenatal diagnosis will be made often and earlier in the future, as the spectrum of anomalies of the Fryns syndrome can easily be evidenced by sonography.
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