BACKGROUND AND OBJECTIVESThe prevalence of major congenital anomalies in Saudi Arabia is a largely understudied area. Knowing the prevalence of birth defects and their trends is important in identifying potential factors that are either causative or preventative. Early antenatal diagnosis of major congenital anomalies is important for possible termination of pregnancy, fetal or neonatal. We determined the prevalence of major congenital anomalies in our hospital population since implementation of an improved screening system.PATIENTS AND METHODSThis single-centre prospective cross-sectional study was conducted in a tertiary care hospital in Riyadh. A total of 63 452 obstetrical ultrasound examinations were performed for 30 632 female Saudi obstetric patients from the period of January 2007 to December 2012.RESULTSA total of 1598 fetuses were diagnosed with major congenital anomalies, including 1064 (66.6 %) fetuses with isolated major anomalies and 534 (33.4%) fetuses with non-isolated major anomalies. The antenatal prevalence of congenital anomalies was 52.1 per 1000 pregnancies. The median maternal age at diagnosis was 29 years. The median gestational age at diagnosis was 30 weeks of gestation. Two hundred and eighty five cases (17.85%) had a previous family history of similar anomalies. The most commonly diagnosed anomalies involved the genitourinary system (652 cases). The birth prevalence of major congenital anomalies was 46.5 per 1000 live births.CONCLUSIONThe prevalence of major congenital anomalies in our hospital population appears to be higher than international prevalences, with a high recurrence rate. Environmental, nutritional and social factors may be contributing to this phenomenon.

Objectives: To evaluate the changes in middle cerebral artery (MCA) Doppler blood flow in fetuses with congenital hydrocephalus in relationship with perinatal mortality.Methods: This a prospective study conducted in King Fahad Medical City, Riyadh, Saudi Arabia from January 2008 to December 2010. All fetuses diagnosed with congenital hydrocephalus had detailed morphology scans. The associated congenital anomalies, cortical mental thickness measurement, and MCA Doppler abnormalities ware marked. Perinatal mortality rates were evaluated in relation to those three findings. The main outcome measures were MCA Doppler changes and perinatal mortality rate.Results: We managed 116 cases of congenital ventriculomegaly and hydrocephalus (35 cases with mild ventriculomegaly, 29 cases with severe ventriculomegaly, and 52 cases with hydrocephalus). The birth incidence of congenital hydrocephalus was 3.52 per 1,000 live births and the total perinatal mortality rate was 40.4% (21/52). Out of 52 cases of hydrocephalus, 9 fetuses were diagnosed with abnormal MCA Doppler (absent or reverse diastolic flow). All nine fetuses died before the age of 24 hours. Abnormal MCA Doppler and a cortical mental thickness measurement of less than 10 mm were significantly associated with higher perinatal mortality rates with a relative risk of 4.42 and 3.58 respectively. The association of congenital hydrocephalus with other congenital anomalies was not statistically associated with higher perinatal mortality.Conclusion: Congenital Hydrocephalus is a common abnormality that is associated with high perinatal mortality. Abnormal MCA Doppler blood flow appears to be a marker of poor prognosis and high perinatal mortality.