Epidemiologic study of anencephaly in Italy and anatomo-pathological analysis of our series. Out of about 1,000,000 new-borns enrolled in the IPIMC Register (Italian Multicenter Study on Congenital Malformations) from 1978 to 1986, 205 were found with isolated anencephaly and 59 with anencephaly associated with other independent malformations, for a total of 284 cases. The study of preferentially associated malformations has pointed out that anencephaly is mainly associated with three kinds of malformations: cleft lip and/or palate, ambiguous genitalia, gastroschisis. Yet these combinations did not result to be the most common with spina bifida, thus proving the heterogeneity of these two neural canal defects. The total rate is 2.7 (/10,000), higher in the South (3.2) than in the North (2.3). The highest rate was reported in Sardinia (6.0). Moreover, a 58.1% trend reduction between 1978-80 and 1984-86 with seasonal peak in January (3.6%) was reported. The following major new-born and mother characteristics have been studied: sex (M/F = 0.76), twin pregnancies (6.4%), vitality (live births: 60, from them 40 died in the same day, 16 between day 1 and 7, 4 after day 7 since birth; still births: 47; born with unknown vitality: 10), mother age (no influence), consanguinity (4.4%), average weight (1,891 gr.), mean gestational age (246 days), intrauterine growth retardation (52.9%). The importance of a proper and careful examination during autopsy is stressed to identify and describe possible associated malformations. Immunohistochemical data (4 cases) on the cerebro-vascular area are reported, mainly to identify any neural buds and related structures (glia, neurofilaments, ganglia, nerves, ependyma, choroid plexus) as well as the connection between osteocartilaginous and epithelial and/or vascular rudiments.
Epidemiological study of anencephaly in Italy and anatomo-pathological findings in cases observed by us [Studio epidemiologico dell'anencefalia in Italia e rilievi anatomopatologici sui casi di nostra osservazione.]
FULCHERI, EZIO;
1990-01-01
Abstract
Epidemiologic study of anencephaly in Italy and anatomo-pathological analysis of our series. Out of about 1,000,000 new-borns enrolled in the IPIMC Register (Italian Multicenter Study on Congenital Malformations) from 1978 to 1986, 205 were found with isolated anencephaly and 59 with anencephaly associated with other independent malformations, for a total of 284 cases. The study of preferentially associated malformations has pointed out that anencephaly is mainly associated with three kinds of malformations: cleft lip and/or palate, ambiguous genitalia, gastroschisis. Yet these combinations did not result to be the most common with spina bifida, thus proving the heterogeneity of these two neural canal defects. The total rate is 2.7 (/10,000), higher in the South (3.2) than in the North (2.3). The highest rate was reported in Sardinia (6.0). Moreover, a 58.1% trend reduction between 1978-80 and 1984-86 with seasonal peak in January (3.6%) was reported. The following major new-born and mother characteristics have been studied: sex (M/F = 0.76), twin pregnancies (6.4%), vitality (live births: 60, from them 40 died in the same day, 16 between day 1 and 7, 4 after day 7 since birth; still births: 47; born with unknown vitality: 10), mother age (no influence), consanguinity (4.4%), average weight (1,891 gr.), mean gestational age (246 days), intrauterine growth retardation (52.9%). The importance of a proper and careful examination during autopsy is stressed to identify and describe possible associated malformations. Immunohistochemical data (4 cases) on the cerebro-vascular area are reported, mainly to identify any neural buds and related structures (glia, neurofilaments, ganglia, nerves, ependyma, choroid plexus) as well as the connection between osteocartilaginous and epithelial and/or vascular rudiments.
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