History and Funding

The registry was established in 1988, as a result of the purely academic interests of a small group of clinical specialists of the University Hospital, City of Pleven. The registry started collecting data on congenital anomalies (CAs) since 1988 and using some of the EUROCAT criteria since 1995. The registry is not officially supported by the Ministry of Health and is partially funded by the Medical University of Pleven (MUP). The registry is located at the Section of Medical Genetics which is a part of the Medical University.

Population Coverage

Pleven region is in the North of Bulgaria with about 263 000 inhabitants (3.6% of the country inhabitants). Up to 2006, the registry was population-based; the University hospital was the only hospital in the city of Pleven, covering all deliveries of resident women within the boundaries of the region. Since 2007, along with University hospital two more delivery hospitals have opened doors in the city and reported data on CAs.

At the present time, the three hospitals cover about 2,300 annual births, which is approximately 81% of all births in Pleven region and 3.3% of all births (about 70,000 per year) in Bulgaria. About 17% of all deliveries in the covered hospital are of non-residents.

Sources of Ascertainment

The registration is active. The ascertainment of the cases with CAs is manly based on an active screening (conducted by neonatologists, obstetricians, clinical geneticists) of all births in the covered hospitals. All cases of CA are described and primary registered by a physician in the first 7 days after delivery. The final registration and coding of the case is carried out by a clinical geneticist based on the final diagnosis.

Additional sources of information are used: hospital records (departments of OBGYC, neonatology, pediatrics), records of pathological meetings, medical genetics/cytogenetic records, stillbirths register. The registry has direct access to cytogenetic laboratory. In all cases of CAs and death (in perinatal period or later) the data from pathological examinations were used for diagnostic validity

Maximum Age at Diagnosis

The registration based on an active screening is up to 1 month of age, but for selected malformation (congenital heart diseases, urogenital etc.) later diagnosis can be registered - up to 1 year of age. In some cases (particularly those with multiple malformations) a follow up of the child is performed.

Terminations of Pregnancy for Fetal Anomaly (TOPFA)

Termination of pregnancy is legal in cases for socio-economic reasons - up to 12 weeks of gestation. Termination of pregnancy as a result of prenatal diagnosis of major fetal anomalies or genetic disorders is legal for any gestational age. Terminations of pregnancy following prenatal diagnosis of CAs are registered but ascertainment is still incomplete.

Stillbirth and Early Fetal Deaths

The registry records all cases of CAs in stillbirths (official statistics of fetal death at ≥28 weeks gestation until 1992 and at ≥24 weeks gestation after 1992), including late miscarriages (fetal death of ≥20 weeks gestation). Early fetal deaths before the 20th week of gestation are excluded. In all cases of stillbirths the pathological examination is obligatory and in cases of late miscarriages with CAs - is required for diagnostic validity.

Exposure Data Availability

In cases with CAs, information on maternal drug use during pregnancy, maternal and paternal diseases and occupations, outcome of previous pregnancies and family history is available.

Denominators and Controls Information

The source of data on birth statistics is the National Statistic Institute. Background by maternal age group and demographic information are available only for the live births.

Address for Further Information

Prof Katya Kovacheva, MD, PhD
Section of Medical Genetics,
Medical University of Pleven 1,
Kliment Ohridski str.,
5800 Pleven,
Tel: +359 64 884 169 or +359 64 884 274
Fax: +359 64 822 677
Email: katiakovach@gmail.com

Last update on 08.08.2019