Prenatal ultrasound detection of congenital anomalies and risk factors related in a Saudi tertiary referral Center
Fatimah F. Alghannam, Feeda S. Almensif, Sadeem N. Alshehri, Fatimah H. Alkhabbaz, Mawdah S. Alzain, Radi A. Alsaffar, Syed R. Daimi, Rashid A. Aldahhan, Nourah H. Alqahtani, Malak A. AlmarghobAbstract:
BACKGROUND:
Congenital anomalies affect a significant part of the global population with varying frequency across regions. In Saudi Arabia, these anomalies pose a notable health concern. Advances in ultrasound screening, particularly during the first and second trimesters of pregnancy, have significantly improved detection rates. The objective of the study was to assess the distribution of congenital anomalies in Saudi women using ultrasound across all three trimesters in one tertiary center and describe the different types of fetal anomalies found.
MATERIALS AND METHODS:
This cross-sectional study analyzed the data from the ultrasound records of Saudi women at a tertiary referral center in Saudi Arabia between May 2023 and November 2024. Data on maternal demographics, medical history, and ultrasound findings were collected and analyzed. Descriptive statistics and subgroup comparisons were performed, with statistical significance set at
RESULTS:
The study screened 2,500 pregnancies, out of which 99 cases of congenital anomalies were identified; the proportion of congenital anomalies was 3.96%. The mean maternal age was 31.5 years and 65.7% of cases occurred among multiparous women. Consanguinity was present in 28.3% of cases. Most of the anomalies were primarily detected in the second trimester (49.5%), followed by the first (24.2%) and third (26.3%) trimesters. Craniofacial (CF) anomalies were the most common (33.3%), followed by central nervous system (15.2%) and cardiovascular anomalies (15.2%). Maternal age ≥35 years (adjusted odds ratio [OR] 1.74, 95% confidence interval [CI]: 1.12–3.09;
CONCLUSION:
Congenital defects in this Saudi population were mainly CF. Distinct phenotypic clusters were identified, and consanguinity was strongly linked to multiple anomalies. These findings emphasize the need for better detection, genetic counseling, and comprehensive screening throughout pregnancy.