The effects of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York State, 1983-1992.

The incidence of Down syndrome (DS) at conception is highly dependent on the maternal age distribution and age-specific pregnancy rates. The live birth prevalence of DS reflects these factors and fetal deaths. This study examined DS live birth prevalence from 1983 to 1992 in New York State and analysed the effects of demographic changes and prenatal diagnosis use on the observed live birth prevalence. Expected DS live birth prevalence without prenatal diagnosis was calculated and compared with observed. Data were obtained from birth defects registries, vital records, and population data maintained by the New York State Department of Health. Over time, DS live birth prevalence was stable at about 10.4 per 10,000 live births. The percentage and number of women in the population above age 30 increased, as did birth rates among these women. Birth rates among younger women decreased. The proportion of DS babies born to women aged 35 and over increased from 27.1 to 34.1 per cent. Use of prenatal diagnosis by this age group ranged from 39.6 to 43.2 per cent, and increased steadily from 1.8 to 4.3 per cent among women under 35. Detection of DS fetuses increased from 82 in 1985 to 233 in 1992. Without prenatal diagnosis, DS live birth prevalence in 1992 would have reached 15.3 per 10,000 live births compared to the 10.2 observed. Prenatal diagnosis has prevented an increase in DS live birth prevalence but has not been sufficient to reduce live birth prevalence significantly.