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The dead newborns and stillborns of a French department (Ille et Vilaine, préfecture: Rennes) were studied during a 3 year period by a multidisciplinary physician group. There were 128 newborns and 207 stillborns among whom autopsies were carried out in 90 (72%) and 107 (52%) respectively. The contribution of the autopsies to diagnosis was highly different in the two groups: 92% in newborns and 34% in the stillborns. In the stillborns, autopsy was only contributive when congenital malformations were observed, whereas it was not when the cause of the death was obstetrical. We conclude that an autopsy must be performed in all dead newborns and stillborns; however for stillborns complementary investigations must be added, particularly on the placenta.

We performed mutation analysis and RFLP haplotype analysis of chromosomes associated with classical phenylketonuria (PKU) in contemporary French families. We also did genealogical reconstructions for seven obligate carriers in five contemporary French-Canadian families living in eastern Quebec, who carry the M1V mutation causing PKU. The M1V mutation, heretofore considered to be associated exclusively with French-Canadians, was found on 4 of 152 independent French chromosomes. The French and Quebec M1V mutations all occurred on RFLP haplotype 2. The contemporary mutant French chromosomes clustered in southern Brittany (Finistère Sud). Genealogical reconstructions of the Quebec families identified 53 shared ancestors and a center of diffusion in the Perche region in 17th century France. The two clusters in France, one historical and the other contemporary, are not incompatible, if one assumes the possibilities that settlers returned from Nouvelle France or moved from Perche to southern Brittany. The M1V mutation is serving as a useful marker for historical demography.

50 cases of hydramnios were found in 17,528 deliveries. This gives a percentage of 0.29. These 50 cases of hydramnios gave birth to 53 fetuses which showed one or more of the following abnormalities. 20 malformations of which 12 were of the central nervous system; 6 twins; 6 cases of Rhesus allo-immunisation; 1 case of chorio angioma; 4 unexplained intra-uterine deaths; and 27 infants that died later. No etiological cause for this hydramnios was found in 20 cases. There was no maternal pathology to be found. Often the obstetrical histories of these women are pathological. In 3 per cent of the cases there was a previous abortion and in 18 per cent it appeared that there was previous hydramnios. We discuss what measures should be taken in cases of hydramnios. In our opinion a woman who has had a pregnancy with hydramnios should have genetic counseilling. The combination of hydramnios with delayed intra-uterine growth suggests that fetal malformation is present.

All 56 neonatal deaths that occurred during 1987 in Ille-et-Vilaine department (France) were systematically analysed, and the history of pregnancy, delivery, neonatal resuscitation, circumstances under which death occurred in neonatal care unit as well as autopsy findings were studied. Each case was then discussed by a multidisciplinary staff and consensus was obtained regarding diagnosis and cause of death. There were 2 separate categories: 26 deaths (46%) were due to related to malformation, or to metabolic dysfunction; 30 deaths were a result of other causes (54%): 9 low birth weight, 5 respiratory disorders, 5 neurologic disorders, 6 infectious diseases, 2 hemorrhagic shock and 3 were of unknown etiology. Information on causes of neonatal death in a specific region may aid in determining public health priorities for that region; if similar studies were carried out in each department, and results compared, this could aid in setting the guidelines for more efficient health treatments and lead to national choices about neonatal public health.

The authors describe and comment on some of the results that have been obtained in a French département (Ille-and-Vilaine) using the information obtained from the first health certificate which has been set up compulsorily for all children in the eight days following delivery. This analysis makes it possible to carry out an annual survey of the demographic course of affairs (birth rate, perinatal mortality rate) and compare these with France as a whole. The certificate gives interesting information about labour (multiple births, Caesarean births, the state of the infant at birth, weight, length, skull circumference, prematurity and small for dates), and the pathology of the first week of life (transfer to other hospitals and death). Malformations are as yet poorly registered and there is need to obtain more information from doctors. Correlations can be established, as for example between neonatal mortality and social class. Finally, using this first certificate will make it possible to open a file on high-risk women for a possible future pregnancy. the authors point out that the contents obtained in the first certificate had to be modified and will later give extra information about the pregnancies, the number of antenatal visits, the number of admissions to hospital, and the preparation for delivery, etc. The results that have up till now been given for various maternity departments allow each obstetrician to audit the work in his department.

Having studied perinatal mortality in Ille-et-Vilaine from 1972 onwards, the authors have come to realise how out of date the present method of working out perinatal mortality is because it only takes account of late intra-uterine death and early neonatal mortality of infants weighing at least 1 kilogram. The old method does not take notice of the changes that have occurred because of the progress that has taken place in obstetrics and neonatology such as the survival of an increasing number of newborn that weigh less than 1,000 grams or of the fact that the distinction between early and late neonatal death seems to be less and less valid. It does not add up to the total of "lost pregnancies". Furthermore, it does not make it possible to compare our figures with those published in foreign countries. The authors therefore feel that a new definition of perinatal mortality should be made, and this should satisfy the four following requirements: It should include on the one hand all fetuses and newborn that weigh at least 500 grams and on the other hand it should include early and late mortality and even mortality that occurs after the neonatal period. It should take into account the problem of false still-births. It should take into account fetal malformations and abnormalities that have called for therapeutic abortions because they are among the principal causes of perinatal mortality. It should study all the statistics and publications on this subject.

The results provided by the Fédération des Centres d'Etude et de Conservation du Sperme Humain (CECOS) are based on 15,283 requests for AID. They are analysed from the point of view of medical genetics. The genetic indications represent 0.77% of requests for AID and can be separated into four groups: dominant autosomal abnormalities in the man, previous children affected by autosomal recessive conditions, chromosomal abnormalities in the man, and a miscellaneous group. In 2,502 births, a total of 45 malformations was seen, including nine chromosomal abnormalities. The possibility of an early amniocentesis for prenatal diagnosis in every pregnancy after AID is discussed.

The eyes of 1 466 children (88.3% of the total) who were admitted to the Centre for premature babies and the neonatal intensive care unit at Rennes between 1973-1975 were re-examined at the age of 2 years. There were 839 premature and 226 term babies whose weight was appropriate for gestational age, and 74 premature and 327 term babies who were small for dates. 95 (6.5%) had eye disorders at the age of 2. Abnormalities were more common in infants with a Birth weight of less than 1 500 g and in those with a gestional age of less than 28-30 weeks. Boys were more commonly affected than girls. 38% of the children with eye disorders had other problems of which the commonest was mental retardation (75%). There was no relation between perinatal complication and the incidence of eye disorders. The most common abnormality was squint (94%) but other problems were major (blindness, cataracts, retrolental fibroplasia). 37% of the abnormalities had not been diagnosed until found in the survey at the age of 2 years.

Brittany is celtic, like Ireland and Wales where the incidence of neural tube defects is raised. We searched the hospital files in Brittany for all live and still births, and terminations of pregnancy after prenatal diagnosis for the years 1975-1984. 225 cases of spina bifida and 210 cases of anencephaly were identified; giving an incidence of 0.60 per 1000 births for spina bifida and 0.56 per 1000 births for anencephaly. No seasonality was found for both malformations. Analysis of the sex ratio for anencephaly indicated significantly higher proportion of females to males. Maternal age in the affected group was similar to the normal population. Casual heterogeneity among neural tube defects patients was presumed because 14% of our cases had other congenital anomalies.

The authors present their view of screening for central nervous system malformations in Brittany, having studied 192 case histories of subjects seen in the three years of genetic counselling in Rennes. Ultrasound usually manages to demonstrate anencephaly but all too often it fails to demonstrate spina bifida. Furthermore serum or amniotic fluid alphafetoprotein levels are often poorly interpreted. Microcephaly and encephaloceles occur rarely. The ultrasound diagnosis of the latter is easy whereas it is more difficult to diagnose microcephaly. The authors point out that there are familial forms of hydrocephaly and of holoprosencephaly which are not all that rare and fairly easy to diagnose so long as one remembers this very serious abnormality.

We report a clinical analysis of 327 cases of Spina Bifida and 102 cases of Anencephaly in Brittany. Maternal age, parity, birth weight are not different from random population. Male rate is 0.40 for Anencephaly and 0.50 for Spina Bifida. The study of pregnancies shows an increased frequency of hydramnios during anencephaly pregnancies (0.34) and high rate of abnormalities during the pregnancy of Spina Bifida (0.34) or Anencephaly (0.86). Four mothers of Spina Bifida were taking valproic acid. Thirty children (0.07) had other malformations.

The authors have made the census of all the Medical Terminations of Pregnancy (MTP) which have been carried out in the Department of Ille et Vilaine from 1982 to 1986, i.e. 222 cases, in order to precise the different indications and the diagnosis tools which were used. 132 MTP concern women who live in the Department of Ille et Vilaine. By referring this figure to the total number of pregnancies in this area, one can see that the average incidence is of 1.9%; MTP account for 1% of the total number of Terminations of Pregnancies. Foetal indications are more frequent (188 cases; i.e. 84.7%) than maternal ones (34 cases, 15.3%); these figures remained stable over the 5-year period of study. Chromosomal aberrations and closing defects of the neural tubule are the main causes of MTP (22.9% of foetal indications). Among the 43 chromosomal aberrations, trisomies are the most frequent ones (34.9%) because all women aged 38 or more are proposed a detection. The diagnosis of trisomy was made in 24 cases after tests were programmed either because of the age of the mother or because of family antecedents (amniocentesis: 22 times, punction of foetal blood: once, biopsy of chorion villosities: once), in 6 cases after tests were carried out on the basis of suspect clinical signs amniocentesis: once, punction of foetal blood: 5 times), and in 13 cases after the echography had revealed a major syndrome. Closing defects of the central nervous system mainly concern anencephaly (17.6% of foetal indications) since the echography enables an easy diagnosis. All anencephaly have actually been detected during the reference period of pregnancy.(ABSTRACT TRUNCATED AT 250 WORDS)

The study of stillbirths is a way to approach foetal medicine and a good opportunity to foster a closer relationship between obstetricians, pediatricians and public health physicians, which will lead to preventive measures known to be effective in decreasing mortality rates. Four hundred and ninety pregnancies which ended in stillbirths were investigated: 61 before 27 weeks of amenorrhea, 228 between 28th and 36th weeks, 194 after 37 weeks. The different causes were identified: intrauterine growth retardation and pathological pregnancies remain the most important causes but the authors attract attention to a category of foetal deaths occurring at the end of the pregnancy without any evident cause and for which "postmaturity" was likely. The data attract attention on the necessity to carry out research on stillbirths through a closer collaboration between obstetricians and pediatricians and suggest that appropriate preventive measures may lead to a significant reduction of the 25% of avoidable deaths.

A new case of fatal systemic legionnaires' disease is reported in an infant. This 8 month-old boy was given a protracted treatment with adrenocorticotropic hormones for infantile spasms. Legionella pneumophila type I was found in tracheal secretions and there was multivisceral involvement at autopsy. The mode of contamination and the severity of the disease are discussed in the light of the immunosuppressive properties of the glucocorticoids administered over a period of 4 weeks.

We have studied neural tube malformations in twins in order to research into the role of genetic and environmental factors. 12 pairs of twins in which one child had a neural tube defect were studied in Brittany, which is a Celtic country. We found no evidential agreement about the role each factor played. On the other hand there was an excess of twins in the siblings of those with neural tube defects, especially in the siblings of the mothers. There were more dizygotic twin mothers. Analysing the literature has made it possible for us to find a level of agreement of 7.5% for monozygotic twins and 4.6% for dizygotic twins. This last figure corresponds to the recurrence rate found after one case. The aetiological theories are reviewed. Among factors bringing about neural tube defects would seem to be the microenvironment of the uterus and the delay between ovulation and fertilization and implantation of the fertilized egg. Nutrition of the embryo and possible vitamin deficiencies could explain this inter-action between the mother and the fetus. If there is a genetic factor, it is more likely to be maternal than fetal.