Congenital anomalies: 15 years of experience in a level III hospital

Carolina Félix, Filipa Flor-de-Lima, Susana Pissarra, Fátima Clemente, Paulo Soares, Manuela Rodrigues, Gustavo Rocha, Maria Beatriz Guedes, Carla Ramalho, Hercília Guimarães


Background: Congenital anomalies (CAs) are a leading cause of fetal and infant mortality and morbidity worldwide. They may be identified prenatally, at the moment of birth or later in life.

Purpose: To describe the cases of CAs registered over the last 15 years at a level III hospital, comparing individuals who were detected through prenatal (preN) diagnosis with those detected through postnatal (postN) diagnosis.

Methods: All records were collected from the Registo Nacional de Anomalias Congénitas (RENAC) online platform between 1st January 2000 to 31st December 2014, in a level III hospital, where cases of CAs were notified voluntarily (n = 1,222). We tested differences for selected variables between the years in study. A multivariate analysis was performed to identify potential factors associated to preN diagnosis.

Results: We observed a total of 1,510 anomalies, being 493 (40.3%) circulatory, 252 (20.6%) chromosomal, 187 (15.3%) musculoskeletal, 138 (11.3%) digestive, 133 (10.9%) urinary, 117 (9.6%) nervous, 37 (3.0%) respiratory, 35 (2.9%) genital, 25 (2%) anomalies of the eye, ear, face and neck, 20 (1.6%) cleft lip/cleft palate and 73 (6.0%) others. Time of diagnosis was known for all subjects: 770 (63.0%) were diagnosed prenatally and 452 (37.0%) were diagnosed at birth or during the first month of life. We found statistically significant differences between groups for several variables. Assisted reproduction techniques (p = 0.023), maternal medications during the first trimester of pregnancy (p = 0.004) and the number of anomalies per individual (p ≤ 0.001) had a statistically significant impact on receiving preN diagnosis.

Conclusion: Our data confirm the importance of both RENAC national database and preN diagnosis in improving perinatal healthcare. However, in order to determine the national prevalence of CAs and understand any involved factors, it is desirable to enhance the notification in the whole country, facilitating the adjustment of national protocols to achieve a better perinatal counseling and surveillance.


congenital abnormalities; prenatal diagnosis; pregnancy outcome; infant mortality; risk factors; maternal health; maternal exposure; consanguinity

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