[Prevalence in birth defects diagnosed by ultrasound: three years experience in university maternal fetal medicine...

To establish the prevalence of congenital malformations diagnosed in Maternal-Fetal Medicine Unit of Hospital de San José, Bogotá-Colombia and comparing them to national and international reports.

Retrospective, descriptive observational where the quantification of all malformed fetuses diagnosed in Maternal-Fetal Medicine Unit from June 2010 to June 2013 was performed.

236 malformed fetuses, a total of 11,914 births, for a prevalence of 1.98% were included at a mean gestational age at diagnosis of 26.7 weeks (SD 7.1 weeks). The most common congenital malformations were at the level of Central Nervous System (CNS) 88 (37%) in total and within them, the most prevalent was ventriculomegaly 16 (7%). Of the 236 malformed fetuses, 165 fetuses (70.2%) had only one affected system 29 (12.3%) 2 compromised systems and 42 (17.5%) over 3 affected systems. Karyotyping was offered to all antenatal patients, however, accepted only 63 (26.7%), and 39 (62%) with normal results and the other aneuploidies were found, having Trisomy 21 as the most common. It was possible to establish a concordance of 86% between the antenatal and postnatal diagnosis. The perinatal mortality found in this study was 34.7%, mainly in fetuses with congenital diaphragmatic hernia 16 cases (88.8%), fetal non-immune hydrops 8 cases (80%), cardiovascular abnormalities 31 cases (46.2%) genitourinary and 13 cases (24%), and fetuses with CNS malformations such as sequence acranea-anencefalia, holoprosencephaly and encephalocele mortality occurred in 100%.

In this study the prevalence of congenital anomalies was found comparable to that reported at local and global levels, which were diagnosed and adequately characterized by more than two-thirds by obstetrical ultrasound performed by trained personnel in prenatal diagnosis. Perinatal morbidity and mortality remain high thoracic, cardiovascular, renal and non-immune hydrops congenital anomalies.