OP21.13: National registry of fetal cardiac pathology in Poland (ORPKP)

Abstract

Objectives: To describe the accuracy of diagnosis, associated anomalies and perinatal survival of fetuses diagnosed with double outlet right ventricle (DORV). Methodolgy: During a four-year period, DORV was diagnosed in 15 fetuses. Their medical records were reviewed and analyzed. Reliability of diagnosis was assessed by postnatal examination and autopsy in cases of termination of pregnancy or perinatal death. Results: The median maternal age was 31 years-old (range 16–40) and the median gestational age at diagnosis 21 weeks (range 15–33). The indication for examination was an abnormal screening ultrasound in 13 cases and an increased nuchal translucency in the remaining 2 cases. Additional cardiac lesions detected were: mitral atresia with hypoplastic left ventricle (n = 5), pulmonary stenosis (n = 3), coarctation of the aorta (n = 4). Transposition were the most common arrangement of the great arteries (n = 12). Chromosomal abnormalities were found in 5 cases (33%): 1 trisomy 21, 2 trisomies 18 and 2 microdel 22q11-. All the diagnoses were confirmed at follow-up, 10 parents opted for termination (67%), 3 cases died either before or after surgery, and only 2 of the infants (13% of the whole group, 40% of the intented to treat) survived beyond 28 days. Conclusions: Prenatal diagnosis of DORV is highly accurate. The prognosis is extremely poor, not only related to the primary lesion but also depending on the associated chromosomal and intra-cardiac anomalies.