History and Funding
The Congenital Anomalies Registry of the province of Trento was an integral part of the North East Italy Registry (NEI Registry) until 2011, collecting data since 1983. Subsequently, the registry continued to collect data on births and terminations of pregnancy for fetal anomaly (following prenatal diagnosis), publishing the statistics annually in ad hoc reports.
The autonomous register of the province of Trento was established in 2012 and the first birth year collected is 2009. The registry joined EUROCAT in 2021 with data since 2014.
The registry is located within the Clinical and Evaluative Epidemiology Department of the Trento Health Service (APSS of Trento), Italy, that coordinates also the Cancer Registry, the Birth Informative Flow (more than 4 000 births per years) and the termination of pregnancies Informative Flow. There is no specific funding.
The main aim of the Registry is to monitor the prevalence at birth and the frequency distribution of congenital anomalies for the population of the province of Trento.
Population Coverage
The area covered by the registry covers the entire province of Trento (North East of Italy), with 166 municipalities (542 739 inhabitants and 4 239 births – 1st January 2020). The registry follows the EUROCAT definition of population based which includes all mothers resident in the province of Trento requiring data on 6% of mothers delivering outside the registry area.
Sources of Ascertainment
The registry is part of the Health Information System and uses several health informative flows and registers to identify the cohort of potentially malformed cases. Data extrapolated from the Birth Attendance Certificate (CedAP) information flow of the Autonomous Province of Trento are integrated with Hospital discharge records (SDO), with the database of prenatal and postnatal genetic counseling (Medical Genetics Unit of the APSS of Trento) and with the Rare Diseases Registry and Cancer Registry.
The CedAP of the province of Trento collects many more variables than the national flow, such as parental smoking habits (for the mother, before and during pregnancy), prenatal diagnostic tests, intake of folic acid during pregnancy and maternal diseases.
To search for potential cases of therapeutic pregnancy interruption (TOPFA), the termination of pregnancies Informative Flow is linked with the database of prenatal genetic counseling, with SDO and with the dataset of fetal autopsies of the Multizonal Anatomy and Pathological Histology and Cytodiagnostics of the APSS of Trento. This last source is also used for stillbirths.
The procedure for identifying cases with congenital anomalies takes place through the selection of diagnoses (main or secondary) with codes belonging to the macrogroup of congenital anomalies. The exclusion criteria are followed, according to the European guidelines, of some minor anomalies not counted if present as an isolated condition. All cases are evaluated by a geneticist according to EUROCAT guidelines.
Maximum Age at Diagnosis
Up to 12 months of life.
Termination of Pregnancy for Fetal Anomaly (TOPFA)
Termination of pregnancy became legal in Italy in 1978. The Italian law (L.N. 194/78) states that TOPFA is allowed in the case of diagnosis of serious fetal pathology which may detrimentally affect the woman’s physical or psychological health. The upper gestational age limit for terminations is 23 weeks.
The most recent legislation on pregnancy (DPCM n. 65, 18 March 2017) details a protocol covering laboratory and diagnostic tests for pregnant women (ultrasound, amniocentesis, chorionic villus sampling AFP/triple test etc.).
Cytogenetic testing is provided routinely for women over 35 years of age. After two consecutive abortions or previous pathologies of pregnancy with perinatal death or positive family history of inherited disorders, a genetic counselling with cytogenetic and genetic testing are offered independent of age; these services are free of charge.
The Nuchal Translucency plus double-test (freeBetaHCG and PAPP-A) are offered to all pregnant women within the fourteenth week. Tri test is scheduled by the nineteenth week of pregnancy. Two ultrasound examinations are foreseen in the protocol, another is added in the third trimester of pregnancy if fetal pathology has been diagnosed.
Prenatal Diagnosis
Information on prenatal diagnoses comes from the CedAP and from the database of prenatal and postnatal genetic counseling.
Stillbirth Definition and Early Fetal Deaths
The official definition of stillbirth is a baby born with no signs of life after 180 days or more gestation (25+6weeks). Stillbirth cases are identified from the aforementioned sources CedAP and fetal autopsies. Data about spontaneous abortions are not included. The autopsy rate in 2018 for stillbirths was 100%.
Exposure Data Availability
Information on parental smoking habits (for the mother, before and during pregnancy), maternal and paternal occupations (included employment branch), diseases before and during pregnancy, citizenship and ethnic group are collected.
Information on the mother's medication intake is retrieved through a record linkage between the registry data and the regional drug database.
Data collection
Data are collected retrospectively from the information flows, registers and databases mentioned above.
Denominators and Controls Information
Birth statistics are provided by the Italian Institute of Statistics (ISTAT).
Ethics & Consent
The registry does not require the submission to the Ethics Committee because it was established in accordance with Provincial Law no. 8, 13 June 2018. The registry is also based on a retrospective collection of cases routinely identified by using current electronic healthcare information system.
Address for Further Information
Dr. Riccardo Pertile
Congenital Anomalies Registry of the province of Trento (ReACT) / Registro delle anomalie congenite della provincia di Trento (ReACT)
Clinical and Evaluative Epidemiology Department, APSS,
Centro Servizi Sanitari, Palazzina A,
Viale Verona,
38123 Trento,
Italy
Tel. +39 0461 9046 38
Fax +39 0461 9046 45
Email: riccardo.pertile@apss.tn.it
Last update on 17.02.2023