Screening for birth defects during the second trimester has been an established practice in antenatal care. The mid-trimester scan at 18-23 weeks enables to pick both internal and external abnormalities of the developing fetus. The objective of this study was to present the pattern of fetal anomalies detected in pregnant mothers who were referred to a tertiary fetal medicine referral centre in Sri Lanka. A retrospective study was carried out in one of the largest tertiary level fetal Medicine referral centres in Sri Lanka between July 2013 and March 2017. Patient information and the ultrasound scan findings were obtained from the purpose built database at the centre. A total of 3900 referrals were reviewed and all singleton pregnancies were included to the study. The mean maternal age and the mean gestational age at which the anomaly scan was performed were 31.0 years (SD=4.8) and 22.8 weeks (SD=4.9) respectively. Of the 3900 referrals 36 (0.9%) had neural tube defects including anencephaly, meningomyelocele and spina bifida. Dandy-Walker complex was detected in 25 (0.64%) fetuses together with Dandy-Walker malformation, Dandy-Walker variant and the mega-cysterna magna. Cleft lip and palate was the commonest congenital abnormality seen in the face which accounted for 19 (0.49%) of the study group. Of the study population 171 (4.38%) fetuses had congenital heart defects and the commonest heart defect was Ventricular Septal Defect (0.56%). Seventeen (0.44%) fetuses had the Atrioventricular Septal Defect which predict the Down syndrome at the mid-trimester scan. Abdominal wall defects and bladder exstrophy were detected in 15 (0.38%) and 5 (0.12%) fetuses respectively. Thirty (0.76%) and 20 (0.51%) fetuses had Congenital talipes deformity and cystic renal disease respectively. Congenital heart defects were the most commonly detected abnormalities. Neural tube defects, congenital talipes and renal tract abnormalities were the other commonly detected abnormalities.
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