Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999

Giovanna Tagliabue, Roberto Tessandori, Fausta Caramaschi, Sabrina Fabiano, Anna Maghini, Andrea Tittarelli, Daniele Vergani, Maria Bellotti, Salvatore Pisani, Maria Letizia Gambino, Emanuela Frassoldi, Enrica Costa, Ganiela Gada, Paolo Crosignani, Paolo Contiero

Research output: Contribution to journalArticle

Abstract

Background: Birth defects are a leading cause of neonatal and infant mortality in Italy, however little is known of the etiology of most defects. Improvements in diagnosis have revealed increasing numbers of clinically insignificant defects, while improvements in treatment have increased the survival of those with more serious and complex defects. For etiological studies, prevention, and management, it is important to have population-based monitoring which provides reliable data on the prevalence at birth of such defects. Methods: We recently initiated population-based birth defect monitoring in the Provinces of Mantova, Sondrio and Varese of the Region of Lombardy, northern Italy, and report data for the first year of operation (1999). The registry uses all-electronic source files (hospital discharge files, death certificates, regional health files, and pathology reports) and a proven case-generation methodology, which is described. The data were checked manually by consulting clinical records in hospitals. Completeness was checked against birth certificates by capture-recapture. Data on cases were coded according to the four-digit malformation codes of the International Classification of Diseases, Ninth Revision (ICD-9). We present data only on selected defects. Results: We found 246 selected birth defects in 12,008 live births in 1999, 148 among boys and 98 among girls. Congenital heart defects (particularly septal defects) were the most common (90.8/10,000), followed by defects of the genitourinary tract (34.1/10, 000) (particularly hypospadias in boys), digestive system (23.3/10,000) and central nervous system (14.9/10,000), orofacial clefts (10.8/10,000) and Down syndrome (8.3/10,000). Completeness was satisfactory: analysis of birth certificates resulted in the addition of two birth defect cases to the registry. Conclusion: This is the first population-based analysis on selected major birth defects in the Region. The high birth prevalences for septal heart defect and hypospadias are probably due to the inclusion of minor defects and lack of coding standardization; the latter problem also seems important for other defects. However the data produced are useful for estimating the demands made on the health system by babies with birth defects.

Original languageEnglish
Article number4
JournalPopulation Health Metrics
Volume5
DOIs
Publication statusPublished - May 25 2007

Fingerprint

Italy
Epidemiology
Birth Certificates
Hypospadias
Infant Mortality
International Classification of Diseases
Registries
Heart Septal Defects
Population
Digestive System
Death Certificates
Congenital Heart Defects
Hospital Records
Live Birth
Down Syndrome
Central Nervous System
Parturition
Pathology
Survival
Health

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health

Cite this

Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999. / Tagliabue, Giovanna; Tessandori, Roberto; Caramaschi, Fausta; Fabiano, Sabrina; Maghini, Anna; Tittarelli, Andrea; Vergani, Daniele; Bellotti, Maria; Pisani, Salvatore; Gambino, Maria Letizia; Frassoldi, Emanuela; Costa, Enrica; Gada, Ganiela; Crosignani, Paolo; Contiero, Paolo.

In: Population Health Metrics, Vol. 5, 4, 25.05.2007.

Research output: Contribution to journalArticle

Tagliabue, G, Tessandori, R, Caramaschi, F, Fabiano, S, Maghini, A, Tittarelli, A, Vergani, D, Bellotti, M, Pisani, S, Gambino, ML, Frassoldi, E, Costa, E, Gada, G, Crosignani, P & Contiero, P 2007, 'Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999', Population Health Metrics, vol. 5, 4. https://doi.org/10.1186/1478-7954-5-4
Tagliabue, Giovanna ; Tessandori, Roberto ; Caramaschi, Fausta ; Fabiano, Sabrina ; Maghini, Anna ; Tittarelli, Andrea ; Vergani, Daniele ; Bellotti, Maria ; Pisani, Salvatore ; Gambino, Maria Letizia ; Frassoldi, Emanuela ; Costa, Enrica ; Gada, Ganiela ; Crosignani, Paolo ; Contiero, Paolo. / Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999. In: Population Health Metrics. 2007 ; Vol. 5.
@article{10cefac73e0849dabe9d20207c6d284e,
title = "Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999",
abstract = "Background: Birth defects are a leading cause of neonatal and infant mortality in Italy, however little is known of the etiology of most defects. Improvements in diagnosis have revealed increasing numbers of clinically insignificant defects, while improvements in treatment have increased the survival of those with more serious and complex defects. For etiological studies, prevention, and management, it is important to have population-based monitoring which provides reliable data on the prevalence at birth of such defects. Methods: We recently initiated population-based birth defect monitoring in the Provinces of Mantova, Sondrio and Varese of the Region of Lombardy, northern Italy, and report data for the first year of operation (1999). The registry uses all-electronic source files (hospital discharge files, death certificates, regional health files, and pathology reports) and a proven case-generation methodology, which is described. The data were checked manually by consulting clinical records in hospitals. Completeness was checked against birth certificates by capture-recapture. Data on cases were coded according to the four-digit malformation codes of the International Classification of Diseases, Ninth Revision (ICD-9). We present data only on selected defects. Results: We found 246 selected birth defects in 12,008 live births in 1999, 148 among boys and 98 among girls. Congenital heart defects (particularly septal defects) were the most common (90.8/10,000), followed by defects of the genitourinary tract (34.1/10, 000) (particularly hypospadias in boys), digestive system (23.3/10,000) and central nervous system (14.9/10,000), orofacial clefts (10.8/10,000) and Down syndrome (8.3/10,000). Completeness was satisfactory: analysis of birth certificates resulted in the addition of two birth defect cases to the registry. Conclusion: This is the first population-based analysis on selected major birth defects in the Region. The high birth prevalences for septal heart defect and hypospadias are probably due to the inclusion of minor defects and lack of coding standardization; the latter problem also seems important for other defects. However the data produced are useful for estimating the demands made on the health system by babies with birth defects.",
author = "Giovanna Tagliabue and Roberto Tessandori and Fausta Caramaschi and Sabrina Fabiano and Anna Maghini and Andrea Tittarelli and Daniele Vergani and Maria Bellotti and Salvatore Pisani and Gambino, {Maria Letizia} and Emanuela Frassoldi and Enrica Costa and Ganiela Gada and Paolo Crosignani and Paolo Contiero",
year = "2007",
month = "5",
day = "25",
doi = "10.1186/1478-7954-5-4",
language = "English",
volume = "5",
journal = "Population Health Metrics",
issn = "1478-7954",
publisher = "BioMed Central",

}

TY - JOUR

T1 - Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999

AU - Tagliabue, Giovanna

AU - Tessandori, Roberto

AU - Caramaschi, Fausta

AU - Fabiano, Sabrina

AU - Maghini, Anna

AU - Tittarelli, Andrea

AU - Vergani, Daniele

AU - Bellotti, Maria

AU - Pisani, Salvatore

AU - Gambino, Maria Letizia

AU - Frassoldi, Emanuela

AU - Costa, Enrica

AU - Gada, Ganiela

AU - Crosignani, Paolo

AU - Contiero, Paolo

PY - 2007/5/25

Y1 - 2007/5/25

N2 - Background: Birth defects are a leading cause of neonatal and infant mortality in Italy, however little is known of the etiology of most defects. Improvements in diagnosis have revealed increasing numbers of clinically insignificant defects, while improvements in treatment have increased the survival of those with more serious and complex defects. For etiological studies, prevention, and management, it is important to have population-based monitoring which provides reliable data on the prevalence at birth of such defects. Methods: We recently initiated population-based birth defect monitoring in the Provinces of Mantova, Sondrio and Varese of the Region of Lombardy, northern Italy, and report data for the first year of operation (1999). The registry uses all-electronic source files (hospital discharge files, death certificates, regional health files, and pathology reports) and a proven case-generation methodology, which is described. The data were checked manually by consulting clinical records in hospitals. Completeness was checked against birth certificates by capture-recapture. Data on cases were coded according to the four-digit malformation codes of the International Classification of Diseases, Ninth Revision (ICD-9). We present data only on selected defects. Results: We found 246 selected birth defects in 12,008 live births in 1999, 148 among boys and 98 among girls. Congenital heart defects (particularly septal defects) were the most common (90.8/10,000), followed by defects of the genitourinary tract (34.1/10, 000) (particularly hypospadias in boys), digestive system (23.3/10,000) and central nervous system (14.9/10,000), orofacial clefts (10.8/10,000) and Down syndrome (8.3/10,000). Completeness was satisfactory: analysis of birth certificates resulted in the addition of two birth defect cases to the registry. Conclusion: This is the first population-based analysis on selected major birth defects in the Region. The high birth prevalences for septal heart defect and hypospadias are probably due to the inclusion of minor defects and lack of coding standardization; the latter problem also seems important for other defects. However the data produced are useful for estimating the demands made on the health system by babies with birth defects.

AB - Background: Birth defects are a leading cause of neonatal and infant mortality in Italy, however little is known of the etiology of most defects. Improvements in diagnosis have revealed increasing numbers of clinically insignificant defects, while improvements in treatment have increased the survival of those with more serious and complex defects. For etiological studies, prevention, and management, it is important to have population-based monitoring which provides reliable data on the prevalence at birth of such defects. Methods: We recently initiated population-based birth defect monitoring in the Provinces of Mantova, Sondrio and Varese of the Region of Lombardy, northern Italy, and report data for the first year of operation (1999). The registry uses all-electronic source files (hospital discharge files, death certificates, regional health files, and pathology reports) and a proven case-generation methodology, which is described. The data were checked manually by consulting clinical records in hospitals. Completeness was checked against birth certificates by capture-recapture. Data on cases were coded according to the four-digit malformation codes of the International Classification of Diseases, Ninth Revision (ICD-9). We present data only on selected defects. Results: We found 246 selected birth defects in 12,008 live births in 1999, 148 among boys and 98 among girls. Congenital heart defects (particularly septal defects) were the most common (90.8/10,000), followed by defects of the genitourinary tract (34.1/10, 000) (particularly hypospadias in boys), digestive system (23.3/10,000) and central nervous system (14.9/10,000), orofacial clefts (10.8/10,000) and Down syndrome (8.3/10,000). Completeness was satisfactory: analysis of birth certificates resulted in the addition of two birth defect cases to the registry. Conclusion: This is the first population-based analysis on selected major birth defects in the Region. The high birth prevalences for septal heart defect and hypospadias are probably due to the inclusion of minor defects and lack of coding standardization; the latter problem also seems important for other defects. However the data produced are useful for estimating the demands made on the health system by babies with birth defects.

UR - http://www.scopus.com/inward/record.url?scp=34347366117&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34347366117&partnerID=8YFLogxK

U2 - 10.1186/1478-7954-5-4

DO - 10.1186/1478-7954-5-4

M3 - Article

AN - SCOPUS:34347366117

VL - 5

JO - Population Health Metrics

JF - Population Health Metrics

SN - 1478-7954

M1 - 4

ER -