Publications (6)13.96 Total impact
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Article: Fraser syndrome: Epidemiological study in a European population.
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ABSTRACT: Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230,695 births, compared to the prevalence 1 in 1,091,175 for the rest of Europe (P = 0.0003). Consanguinity was present in 7/26 (27%) families. Ten (38%) cases were liveborn, 14 (54%) pregnancies were terminated following prenatal detection of a serious anomaly, and 2 (8%) were stillborn. Eye anomalies were found in 20/24 (83%), syndactyly in 14/24 (58%), and laryngeal anomalies in 5/24 (21%) patients. Ambiguous genitalia were observed in 3/24 (13%) cases. Bilateral renal agenesis was present in 12/24 (50%) and unilateral in 4/24 (17%) cases. The frequency of anorectal anomalies was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third of the total prevalence rate. © 2013 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 03/2013; · 2.39 Impact Factor -
Article: International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies.
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ABSTRACT: The aim of this study was to examine trends of Down syndrome (DS) in relation to maternal age and termination of pregnancies (ToP) in 20 registries of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Trends of births with DS (live-born and stillborn), ToP with DS, and maternal age (percentage of mothers older than 35 years) were examined by year over a 12-year period (1993-2004). The total mean number of births covered was 1550,000 annually. The mean percentage of mothers older than 35 years of age increased from 10.9% in 1993 to 18.8% in 2004. However, a variation among the different registers from 4-8% to 20-25% of mothers >35 years of age was found. The total mean prevalence of DS (still births, live births, and ToP) increased from 13.1 to 18.2/10,000 births between 1993 and 2004. The total mean prevalence of DS births remained stable at 8.3/10,000 births, balanced by a great increase of ToP. In the registers from France, Italy, and the Czech Republic, a decrease of DS births and a great increase of ToP was observed. The number of DS births remained high or even increased in Canada Alberta, and Norway during the study period. Although an increase in older mothers was observed in most registers, the prevalence of DS births remained stable in most registers as a result of increasing use of prenatal diagnostic procedures and ToP with DS.Birth Defects Research Part A Clinical and Molecular Teratology 06/2010; 88(6):474-9. · 2.27 Impact Factor -
Article: Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.
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ABSTRACT: Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median maxillary central incisor. Information on the epidemiology of HPE is limited, both because few population-based studies have been reported, and because small studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate. We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This study is based on more than 7 million births in various areas from North and South America, Europe, and Australia. A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, under-reporting and over-reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations. The data do not suggest large differences in total prevalence of HPE among the studied populations that would be useful to generate etiological hypotheses.Birth Defects Research Part A Clinical and Molecular Teratology 07/2008; 82(8):585-91. · 2.27 Impact Factor -
Article: Toward the effective surveillance of hypospadias.
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ABSTRACT: Concern about apparent increases in the prevalence of hypospadias--a congenital male reproductive-tract abnormality--in the 1960s to 1980s and the possible connection to increasing exposures to endocrine-disrupting chemicals have underlined the importance of effective surveillance of hypospadias prevalence in the population. We report here the prevalence of hypospadias from 1980 to 1999 in 20 regions of Europe with EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers, 14 of which implemented a guideline to exclude glanular hypospadias. We also report data from the England and Wales National Congenital Anomaly System (NCAS). Our results do not suggest a continuation of rising trends of hypospadias prevalence in Europe. However, a survey of the registers and a special validation study conducted for the years 1994-1996 in nine EUROCAT registers as well as NCAS identified a clear need for a change in the guidelines for registration of hypospadias. We recommend that all hypospadias be included in surveillance, but that information from surgeons be obtained to verify location of the meatus, and whether surgery was performed, in order to interpret trends. Investing resources in repeated special surveys may be more cost-effective than continuous population surveillance. We conclude that it is doubtful whether we have had the systems in place worldwide for the effective surveillance of hypospadias in relation to exposure to potential endocrine-disrupting chemicals.Environmental Health Perspectives 04/2004; 112(3):398-402. · 7.04 Impact Factor -
Article: Neonatal growth patterns in a population of consecutively born Down syndrome children
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ABSTRACT: Percentile charts of neonatal length, weight, head circumference, and weight/length squared have been constructed using data based on 688 consecutive newborn infants with Down Syndrome and 6,890 normal new born infants (control group) registered in the congenital malformation registers of North-East Italy and the Emilia-Romagna Region. All percentiles of growth variables are lower in Down syndrome than in the control infants, except for the weight/length2 percentiles, suggesting that growth in Down syndrome is prenatally reduced; overweight begins after birth.American Journal of Medical Genetics 12/1989; 37(S7):71 - 74. -
Article: Anophthalmia and benomyl in Italy: A multicenter study based on 940,615 newborns
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ABSTRACT: Following the report on clusters of anophthalmia and microphthalmia in England and Wales their possible relation to the pesticide Benomyl, we analyzed the situation in Italy for the period 1986 to 1990 using data from the Italian registries of congenital malformations and national data on Benomyl use. Of 940,615 consecutive births, 33 cases of clinical anophthalmia and 78 cases of microphthalmia were reported (birth prevalence: 0.35 and 0.83/10,000). Birth prevalence by region for 18 of Italy's 20 political regions was evaluated for the two malformations, grouped together after exclusion of defects associated with chromosomal anomalies, no dishomogeneity in space or time among registries or among regions was observed for the study period. In no region was a statistically significant difference identified between observed and expected overall birth prevalence. Correlation analysis between the prevalence of micro/anophthalmia and Benomyl use by region showed a negative, nonsignificant coefficient, and an inverse correlation was found when the 18 regions were divided into four groups by increasing levels of Benomyl use. Parental occupation in agriculture did not seem to be associated with micro/anophthalmia when compared to a control group affected with isolated preauricular tags (odds ratio 0.63; CL 0.07–2.52). On the basis of these results, though the limits intrinsic to ecologic correlation studies must be taken into account, an association between Benomyl use and congenital micro/anophthalmia appears to be unlikely.Reproductive Toxicology.
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Institutions
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2013
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Children's Hospital Zagreb
Zagreb, Grad Zagreb, Croatia
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1989
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Universita degli studi di Ferrara
- Sezione di Genetica Medica
Ferrara, Emilia-Romagna, Italy
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