Major birth defects at King Fahd Hofuf Hospital: Prevalence, risk factors and outcome.

We analyzed the medical records of all live birth infants (LBs) born with major birth defects (MBDs) at King Fahd Hofuf Hospital (KFHH) during a three-year period. Our objectives were to determine defect prevalence rate, patterns, geographic differences, associated maternal and infant risk factors, and the contribution of the defects to mortality in our Neonatal Intensive Care Unit (NICU). Out of 30,159 infants born alive during the study period, 687 (2.27%) had one or more MBDs. Systems most commonly affected were the cardiac (20.8%), musculoskeletal (18.7%), and central nervous (18.3%) systems. We observed higher rates/1000 LBs of life-threatening CNS and cardiac defects and diaphragmatic hernia than rates reported from other countries. Rate of defects/1000 LBs increased from 0.79% in the birth-weight group >/=4000 g to 15.2% in the birth-weight category <1500 g. Fifty-six infants with MBDs were born to diabetic mothers; diabetes was the only identified maternal disease associated with birth defects. Diabetic mothers and those of infants with chromosomal anomalies had higher means of age and parity than the control mothers ( 33.5 yrs (SD 5.2), 31.4 yrs (7.5), and 8.8 (3.8), 7.39 (3.8), for age and parity of diabetic and chromosomal anomalies respectively vs. 26.8 yrs (6.4) and 5.2 (3.7) in the controls, P<0.01). Out of the 687 infants, 254 (36.97%) died; and MBDs were the most common disease- specific cause of death in our NICU throughout the study period.