Epidemiology of holoprosencephaly in Hawaii, 1986-97

Holoprosencephaly is a birth defect affecting the medial structures of the brain and face. This investigation examined the epidemiology of holoprosenc ephaly in Hawaii between 1986 and 1997, using data obtained from a birth de fects registry, and compared the results with those of other population-bas ed studies. Twenty-five cases were identified, producing a prevalence of 1. 09 per 10 000 livebirths. There were 17 (68.0%) livebirths, two (8.0%) feta l deaths and six (24.0%) elective terminations. Ten (58.8%) of the livebirt hs died before the age of 1 year. Seven (28.0%) had a known chromosomal abn ormality, most often trisomy 13. Prevalence rates were higher for maternal age > 39 years, maternal race/ethnicity of Far East Asian or Filipino, fema les and residence in Maui County. The small number of cases limited the sta tistical significance of the study. However, this report confirms many of t he findings from the previous studies and adds new findings, particularly t he higher prevalence among Far East Asians and Filipinos.