The Prevalence of Congenital Anomalies in Europe

Abstract

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48% of all TOPFA. Congenital heart defects (CHD) were the most common non-chromosomal subgroup, at 6.5 per 1,000 births, followed by limb defects (3.8 per 1,000), anomalies of urinary system (3.1 per 1,000) and nervous system defects (2.3 per 1,000). In 2004, perinatal mortality associated with congenital anomaly was 0.93 per 1,000 births, and TOPFA 4.4 per 1,000 births, with considerable country variation. Primary prevention of congenital anomalies in the population based on controlling environmental risk factors is a crucial policy priority, including preconceptional care and whole population approaches.

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles

“…24 The incidence of major congenital malformations was 1/47 (2.12%) which is in line with the series of Desmyttere et al 25 and with the Eurocat figure of 23.9/1000. 26 The success figures of PGD should also be compared with what is known on the outcome of natural conceptions in fertile carriers. Sugiura-Ogasawara et al 27 found that of 72 rcp carriers, ascertained by For the successful PGD couples, their first PGD child was mostly born within 1.5 years after the work-up for PGD.…”

Fetal Dysmorphology

“…Many fetal abnormalities may only be noted after delivery 1 . If fetal abnormality is unexpected there is often only one chance to examine a fetus for dysmorphic features and to decide on appropriate investigation.…”

“…Analysis of data from European population-based congenital anomaly registers reported a malformation rate of 29.3 per 1000 births 1 . Eighty percent of these were in live births whereas 17% were observed in fetuses terminated after ultrasound diagnosis of fetal abnormality.…”

Hyperglycemia impairs left–right axis formation and thereby disturbs heart morphogenesis in mouse embryos

“…diabetes | congenital heart defects | heterotaxia | left-right axis C ongenital heart defects (CHDs) are among the most common birth defects in humans, affecting 0.8-1.16% of live births (1,2). Such defects are not necessarily caused by genetic alterations, with epidemiological studies having revealed that various modifiable factors increase the risk of specific types of CHD (1,3).…”