A total of 732 cases of omphalocele and 274 cases of gastroschisis was registered in 21 regional registers in Europe (EUROCAT registers) during the period 1980-1990. The total prevalence rates were 2.52 per 10,000 for omphalocele and 0.94 per 10,000 for gastroschisis. There was significant heterogeneity in total prevalence rates among regions for omphalocele. Consistently higher than average total prevalence rates of omphalocele were found in the five centers of the British Isles. This was in large part linked to the association between omphalocele and neural tube defects. A significant female excess among the cases of omphalocele associated with neural tube defects, in comparison with an insignificant male excess for other cases of omphalocele, was observed. Geographical differences in the total prevalence of gastroschisis are partly explained by differences in maternal age distributions in the populations surveyed. Omphalocele was an isolated malformation in 46% of cases; gastroschisis was isolated in 79% of cases. The average birthweight and gestational age of both isolated and multiply malformed cases of both omphalocele and gastroschisis were low, especially for multiply malformed cases, and to a greater extent for isolated gastroschisis than for isolated omphalocele. Prenatal diagnosis leading to termination of pregnancy was reported in 33.2% of omphalocele and in 26.5% of gastroschisis cases, demonstrating the considerable impact of current prenatal screening programs. On the basis of clinical manifestations, epidemiologic characteristics, and the presence and type of additional malformations, omphalocele and gastroschisis can be considered heterogeneous conditions.
During 1984-1989, 116 cases of omphalocele and 42 cases of gastroschisis were detected among 736,760 consecutive births in the area covered by five Italian congenital malformation registries. The prevalence rate was 1.6 per 10,000 for omphalocele and 0.6 per 10,000 for gastroschisis. Three additional cases were detected among spontaneous abortions, giving a total of 117 cases of omphalocele and 44 of gastroschisis. No variations in prevalence rates were observed among registries. A cluster of omphalocele was found in 1989 in Firenze. All cases were sporadic except for one infant with two sibs with Beckwith-Wiedemann syndrome. A predominance of male infants was observed for both defects. This study confirms the very young maternal age for isolated gastroschisis as compared to that for omphalocele and controls. Birth weight and the percentage of small-for-date is different among isolated gastroschisis, omphalocele and controls. Associated anomalies occurred in 45 cases of omphalocele and 11 cases of gastroschisis. Our data confirm the association of omphalocele with trisomies 13 and 18. Twelve cases of omphalocele and gastroschisis with associated limb defects were classified as limb body wall complex. The possible differences in etiopathology between omphalocele and gastroschisis, both isolated and associated, are discussed.
Epidemiological and genetic variables in limb reduction defects (LRD) were analysed during the years 1978 to 1987 in a case control study in Emilia Romagna, northern Italy. During the observation period, 83 neonates out of 173 109 consecutive births had LRD (4-8 per 10 000). Cases were divided into five subgroups: transverse, intercalary, longitudinal, split, and multiple types of LRD. Of all cases, 64% were upper limb, 21% lower limb, and 15% both. Coexisting non-limb malformations were found in 10 cases (12%), five with recognised syndromes and five with other associated defects. About 7-2% of first degree relatives had defects involving the skeletal system. In two cases the mother had the same type of LRD (a split). No recurrence among sibs was observed. Risk factors correlated with LRD were found to be low birth weight (2500 g or less), vaginal bleeding, and threatened abortion.Limb reduction defects (LRD) are severe anomalies occurring in about one in every 2000 (five per 10 000) newborn infants."l Some of these anomalies are genetic in origin, resulting from dominant and recessive genes 6 and chromosomal abnormalities. However, the aetiology of many LRD is still unknown, and it is possible that a certain percentage can be attributed to the statistical probability that problems will arise during the complicated embryonic processes.'3 In other words, to reduce the frequency of malformations beyond a certain limit may prove impossible despite continuing studies of the aetiology of malformations and preventive measures.From a clinical point of view, LRD can either be isolated or part of syndromes or multiple non-limb malformations.The present study reviews infants reported to have LRD in the Emilia Romagna register (1978 to 1987). Assessments were made in terms of frequency, referral patterns, co-occurring malformations, and aetiological factors. Materials and methods THE REGISTERDetails of the Emilia Romagna register for congenital malformations have been published previously.'1'6In this study, data on infants with congenital anomalies (whether born alive or stillborn after the 28th week of gestation) were reported using a specially designed questionnaire filled out by the medical staff during a personal interview with the mother. Each of these registered mothers was paired with a control mother whose delivery immediately preceded hers in the maternity unit. Diagnoses were written out rather than being given code numbers. Descriptions of the malformations were supplemented with drawings, photographs, x rays, and
Epidemiological and genetic variables in clefts were analyzed during the years 1978-1986 in a case-control study of congenital malformations in the Emilia Romagna region of northern Italy. Among 150,168 newborns, 200 cases of cleft were detected, yielding a prevalence of 1.33 per 1,000. These clefts consisted of 112 (0.075%) cases of cleft lip with or without cleft palate (CL +/- P) and 88 cases (0.058%) of cleft palate (CP). Coexisting abnormalities were found in 32% of cases. The heritability coefficient of CL +/- P was 0.84. No cluster in time or space could be demonstrated. Epilepsy was the only maternal risk factor found to be correlated with clefts. A predominance of males was found among CL +/- P cases.
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