# Epidemiological and Histopathological Characteristics of Fetuses with Congenital Disorders: A Study in Greece

## TL;DR

This study examines the causes and patterns of birth defects in Greek fetuses over 16 years, identifying key factors linked to congenital anomalies.

## Contribution

The study provides the first detailed epidemiological data on congenital anomalies in Greece, identifying significant associations with various prenatal factors.

## Key findings

- Congenital anomalies were most common in musculoskeletal, nervous, cardiovascular, and urinary systems.
- Factors like iatrogenic abortion and nuchal oedema were positively linked to birth defects, while gestational age and twin pregnancies were inversely associated.
- Multivariable analysis confirmed significant relationships between several prenatal factors and congenital anomalies.

## Abstract

Birth defects pose a significant public health problem. However, Greece is not a part of the European network of congenital anomalies and no recent studies examining congenital malformations have been carried out in this country. The aim of the present work is to study the epidemiology of birth defects in Greece and identify possible factors associated with their occurrence. The study population consisted of 649 fetuses that were referred from three hospitals in Thessaloniki for autopsy and histo-pathological examination over a period of 16 years (1992–2008). Congenital anomalies were identified in 256 out of the 649 fetuses and were primarily associated with the musculoskeletal, nervous, cardiovascular and urinary systems. Various factors were found to be statistically significantly related—both positively and negatively—to the development of congenital anomalies in univariable and multivariable logistic regression analysis. Our autopsy-based study revealed the epidemiology of congenital anomalies in Northern Greece and corroborated the relationship between a number of factors and birth defect occurrence.

Congenital malformations constitute a major public health issue. Nonetheless, Greece does not participate in the European network of congenital anomalies. To examine the epidemiology of congenital abnormalities and investigate possible factors associated with their development, autopsies were performed on 649 fetuses referred from three healthcare facilities in Thessaloniki during 1992–2008. Adequate statistical analysis methods were implemented. Birth defects were found in 256 fetuses (39.5%)—primarily related to the musculoskeletal (17.3%), nervous (14.5%), cardiovascular (12.5%) and urinary (10.4%) systems. A statistically significant positive correlation (p-values < 0.05) emerged between the presence of a congenital defect and intrauterine growth restriction, inability to identify the fetus’ sex, iatrogenic abortion, nuchal oedema and a single umbilical artery. An inverse association (p-values < 0.05) was deduced with the gestational age, twin pregnancy, stillbirth, chorioamnionitis, infarction and intervillous thrombus of the placenta and nuchal cord. In multivariable analysis, the relationship remained significant (p-values < 0.05) between the development of birth defects and iatrogenic abortion, nuchal oedema, presence of a single umbilical artery, chorioamnionitis, infarction of the placenta and nuchal cord. ROC curve analysis indicated area under the curve = 0.800, 95% confidence interval = 0.76–0.84, p-value = 0.000. Our study revealed the epidemiology of congenital anomalies in Greece, confirming the relationship between various factors and birth defect occurrence.