Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the 'severe' or the 'questionable' group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p less than 0.0001). The association of ultrasound anomalies and termination was highly significant (p less than 0.001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.

This study was undertaken to determine if parental decisions to continue or terminate following the diagnosis of a cytogenetic abnormality have changed over the past 8 years at the same center. Parental decisions in 310 prenatal chromosomal abnormalities were stratified by procedure (chorionic villus sampling [CVS] vs. amniocentesis) and the severity of the anomaly (severe vs mild‐moderate). Patients with severe anomalies were much more likely to terminate regardless of gestational age. There was a trend (P = .107) toward a lower rate of termination for mild‐moderate degrees in the second trimester. There was no change in patient's decisions over time. Patients' decisions about termination are focused on the severity of the disorder and only marginally influenced by when in gestation the decision is made. © 1996 Wiley‐Liss, Inc.

This study compared the epidemiology of Down syndrome over a 20-year period, 1970-1989, in two populations in which livebirths with Down syndrome were believed to be highly ascertained. One population was a 10-county region in southwest Ohio; the second was a five-county region in metropolitan Atlanta, Georgia. The major objectives were to 1) compare observed incidences of Down syndrome over the entire study period; 2) calculate expected incidences of Down syndrome for each population and compare these with observed incidences; 3) determine incidence trends throughout the period; and 4) examine the impact of prenatal diagnosis on the observed incidence of Down syndrome in each population. Excluding aborted fetuses with Down syndrome diagnosed prenatally, the observed incidence of Down syndrome, 0.98, was significantly lower than that expected, 1.27, within the Atlanta white data set. Once the observed data were adjusted to include aborted fetuses with Down syndrome (total incidence = 1.17), no statistically significant differences remained. No differences were found between observed and expected incidences of Down syndrome for whites in southwest Ohio or for other races in either population. Although uncorrected observed incidences were significantly different between the two populations of whites for the entire 20-year period, the differences again disappeared after the data were corrected to include aborted fetuses. No significant effect of prenatal diagnosis on those of other races was found in either population. Expected Down syndrome incidences rose from the late 1970s throughout the 1980s for both racial groups in Ohio and Atlanta, Georgia; however, because the termination of fetuses with Down syndrome increased over the decade, the observed incidence among whites in southwest Ohio remained at earlier levels and actually fell among whites in Atlanta. These results indicate the increasing importance of prenatal diagnosis and selective abortion in the epidemiology of Down syndrome and of correcting for it when comparing incidences between populations, even within the same time period. These data from 2 decades show that differences in both observed and expected incidences of Down syndrome exist between both populations and races, principally because of differences in demographic age structure and maternal age fertility rates and because of differential use of prenatal diagnosis and selective abortion.

This article develops the concept of decision context to refer to the combinations of factors that are important in understanding and predicting termination decisions after a prenatal diagnosis of trisomy 21. Four factors are examined: maternal age, gestational age, prior voluntary abortion, and existing children. The cases were studied at the Wayne State University's Reproductive Genetics Clinic. Qualitative comparative analysis, a technique specifically designed for examining the impact of combinations of factors, is used to isolate influential decision contexts. Odds and odds ratios are used to pinpoint outcome differences among different decision contexts. Four alternative decision contexts are especially conducive to choosing to terminate a pregnancy. Two of these involve women of any age and are formed from combinations of gestational age and existing children (existing children and low gestational age, and no children combined with late gestational age). Older women who have not had an abortion and who discover the trisomy 21 anomaly early are likely to choose termination. Younger women who have had an abortion are also likely to choose termination. Our data suggest there are added layers of complexity to patients' decisions that derive from combinations of conditions. An additional, strong implication is that qualitative comparative analysis may be particularly useful in understanding such complexity.