A multicentre study on pattern of fetal anomalies detected in Sri Lanka

Abstract

OBJECTIVE: Prenatal diagnosis is a rapidly evolving specialty in modern medicine. The mid-trimester scan has been an important practice in safe antenatal care which predicts birth defects of the developing fetus. This scan performed during 18-23 weeks of pregnancy detects both internal and external abnormalities of the fetus. The objective of this study was to present the pattern of fetal anomalies detected in Sri Lankan pregnant women who were referred for the anomaly scan. METHOD: A multi centre retrospective study was carried out in all the fetal medicine referral centers conducted in the Island including Colombo, Ragama, Galle and Kurunegala between July 2013 and March 2017. Patient information and the ultrasound scan findings were obtained from the purpose built database maintained by the authors. RESULTS: A total of 7370 referrals were reviewed and 6704 singleton pregnancies were selected. The mean maternal age and the mean gestational age at which the anomaly scan was performed were 31 years (SD=4.9) and 23 weeks (SD= 4.5) respectively. Congenital Heart Disease (CHD) was the commonest abnormality detected in the study group 149 (2.2%). Thirty-one (0.5%) fetuses had Atrioventricular Septal Defect which predicts Down syndrome at the mid-trimester scan. Majority (8.3%) of the CHD were referred from the Uva province. Of the 7370 referrals 63 (0.9%) and 27 (0.4%) had Neural Tube Defects (NTDs) and cleft lip/palate respectively. Highest percentage (4.4%) of NTDs were referred from the North Central province and cleft lip/palate referrals were commonest in Sabaragamuwa (0.9%) province. Abdominal wall defects and cystic renal disease were detected in 33 (0.5%) and 38 (0.6%) fetuses correspondingly. Referrals received from the Uva (1.9%) province reached the highest number of abdominal wall defects and cystic renal disease referrals were peaked in the Uva (7.4%) province. Forty-eight (0.7%) referrals had Congenital Talipes Equino Varus deformity and highest number of referrals was from the Eastern (2.4%) province. CONCLUSION: Referrals received from the Uva province had highest number of fetal anomalies (20%) either as a major or minor birth defect. Of the total referrals congenital heart defect was the commonest congenital abnormality detected in the study group.