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

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

The indicators are:

  • Perinatal mortality due to congenital anomaly.
  • Prevalence of congenital anomaly prenatal diagnosis.
  • Prevalence of termination of pregnancy for congenital anomalies.
  • Prevalence of lifeborn 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.

Prenatal Mortality

Congenital anomalies are an important contributor to perinatal mortality. In EUROCAT 2008-2012, the rate of late fetal deaths/stillbirths with congenital anomaly is 0.46 per 1,000 births and the rate of early neonatal deaths (deaths within the first week) is 0.47 per 1,000 births, resulting in a total perinatal mortality rate of 0.93 per 1,000 births associated with congenital anomaly (Table 1).

In 2008-2012, the main congenital anomaly subgroups contributing to perinatal mortality are chromosomal anomalies (23.7%), congenital heart defects (22.6% of perinatal deaths have heart anomalies) and nervous system anomalies (17.2%) (Table 1).

Chromosomal anomalies and nervous system defects contribute more to stillbirths than to early neonatal deaths, while congenital heart defects contribute more to early neonatal deaths than to stillbirths (Table 1).

Perinatal mortality associated with congenital anomaly varies by country (Table 2). The rates vary from 0.27 per 1,000 births in Italy to 3.34 per 1,000 births in Malta.

The highest rates of perinatal mortality associated with congenital anomaly are recorded in Malta (3.34 per 1,000 births) and Ireland (2.06 per 1,000 births). These are both countries where TOPFA is illegal, thus the perinatal mortality rate includes affected fetuses 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).