EUROCAT developed specific public health indicators for the surveillance of congenital anomalies.

These indicators aim to summarise important aspects of the public health impact of congenital anomalies in a few quantitative measures.

The indicators encompass:

  • Perinatal mortality due to congenital anomaly.
  • Prevalence of congenital anomaly prenatal diagnosis.
  • Prevalence of termination of pregnancy for congenital anomalies.
  • Prevalence of liveborn Down syndrome cases.
  • Prevalence of selected anomalies usually requiring surgery.
  • Total prevalence of neural tube defects.

The definition and first calculation of the indicators can be found in the following publication:
Khoshnood B, Greenlees R, Loane M, Dolk H on behalf of the EUROCAT Project Management Committee and a EUROCAT Working Group (2011), "Paper 2: EUROCAT public health indicators for congenital anomalies in Europe", Birth Defects Research (Part A), Vol 91, pp S16-S22.

The current page focuses on perinatal mortality due to congenital anomaly.

Prenatal Mortality

Congenital anomalies are important contributors to perinatal mortality. In EUROCAT 2018-2022, the rate of late foetal deaths/stillbirths with congenital anomaly is 0.56 per 1,000 births and the rate of early neonatal deaths (deaths within the first week after birth) is 0.41 per 1,000 births, resulting in a total perinatal mortality rate of 0.96 per 1,000 births associated with congenital anomaly (Table 1 for 2018-2022). In the previous years, the total perinatal mortality rate reached 0.88 and 0.94 per 1,000 births between 2010-2014 and 2015-2019 respectively (Table 1 for each period).

The main congenital anomaly subgroups contributing to perinatal mortality are genetic disorders (41.7% of foetal deaths in 2018-2022, 37.0% in 2015-2019 and 37.4% in 2010-2014; 28.8% of early neonatal deaths, 24.8% and 24.0%), congenital heart defects (foetal deaths: 16.8%, 20% and 18.2%; early neonatal deaths: 27.1%, 28.2% and 28.1%) and nervous system anomalies (foetal deaths: 12.4%, 13.3% and 16.3%; early neonatal deaths: 13.8%, 12.8% and 15.2%) (Table 1 for each period).

Genetic disorders contribute more to foetal deaths than to early neonatal deaths, while congenital heart defects contribute more to early neonatal deaths than to stillbirths (Table 1 for each period).

Perinatal mortality associated with congenital anomaly varies by country (Table 2 for each period). In 2018-2022, the rates vary from 0.31 per 1,000 births in Italy (0.29 in 2015-2019, 0.35 in 2010-2014) to 2.17 per 1,000 births in Ireland (Pleven: 2.28 in 2015-2019 and 2.61 in 2010-2014).

Malta and Ireland have among the highest rates of perinatal mortality associated with congenital anomaly. These are both countries where TOPFA is illegal or limited to certain circumstances. The perinatal mortality rate includes affected foetuses with a lethal or high mortality anomaly which would in other countries have led to TOPFA and exclusion from mortality statistics.

In most countries, TOPFA far outnumber stillbirths and early neonatal deaths with congenital anomaly (Table 3 for each period).