AbstractBACKGROUND AND AIMS: Circumstantial data has linked hypercholesterolemia to preterm delivery and small offspring. The primary aim of this study was therefore to determine whether women with familiar hypercholesterolemia (FH) have a higher risk of giving birth prematurely (< 37 gestational weeks) and delivering children with low birth weight (< 2,500 g) compared to women in the general population. The secondary aim was to examine the lipid-lowering medication use under FH pregnancy and the effect on the birth outcome, with respect to premature delivery and low birth weight.STUDY DESIGN: The Medical Genetics Laboratory at Oslo University Hospital, Rikshospitalet, identified 1,871 FH women of fertile age (≥ 14 years old) in its registry. This data-set was linked to that of the Medical Birth Registry of Norway, identifying women who had been pregnant and their birth outcome during the period 1967-2006. The FH study population data was compared to corresponding data from the general population in Norway.RESULTS: The registry-match resulted in 2,319 births of 1,102 women with heterozygous FH. The overall prematurity and low birth weight prevalences for the 40 year-period among primipara singleton live births in the FH population, were 6.1 % and 4.7 %, respectively, i.e. not different (p> 0.05) from the 6.2 % and 5.2 %, respectively, in the general population, regarding all births. The lipid-lowering medication use registered in 19 pregnancies was not associated (p> 0.05) with prematurity or low birth weight. CONCLUSION: FH women are not at a higher risk of preterm or low birth weight outcomes than are women in the general population.