We conclude that CF neonatal screening does not have a significant impact on the reproductive behavior of most families and that prenatal diagnosis is not used by the majority of CF families. IRT/DNA testing experiences seem to affect attitudes about having more children, and some parents are confused about the implications of the results, even with genetic counseling. However, persistent concerns about the sweat test result are limited. Questions raised by this study confirm the need for more research regarding the process of genetic counseling and its impact on reproductive attitudes and behavior in the newborn screening setting.

No abstract

The Wisconsin Stillbirth Service Program has provided a mechanism for the collection and analysis of unbiased and representative information concerning stillborn infants. Generated diagnoses and diagnostic categories within the first 1,000 referrals (including 789 stillbirths) is summarized here. Among all referred stillborns, 24.5% were found to have an identifiable intrinsic fetal cause of death. Specific diagnoses were extraordinarily heterogeneous, with about 85 different processes identified with this group. No single diagnosis was found in more than 1 1/2% of the evaluated stillborns. Distribution by classes of fetal causes (as a percent of all fetal causes in stillborns) included malformation syndromes in 44%, single malformations and defined sequences in 34%, disruptions in 10%, and dysplasias in 3%. The heterogeneity of syndromic causes is illustrated, examples of previously undescribed syndromic processes provided and the problems experienced in generating specific diagnoses discussed. Specific single malformations, sequences, disruptions, and dysplasias are also tabulated and illustrated. Distribution by etiologic categories (as a percent of all fetal causes in stillborns) included defined sporadic conditions in 29%, cytogenetic aberration in 25%, presumed multifactorial processes in 12%, Mendelian disorders in 5%, and environmental events in less than 4%. A fourth of all fetal causes could not be sufficiently defined to allow for certainty in assigning a specific etiologic category. The materials summarized provide reference data regarding the frequency of classes and categories of fetal diagnoses generated from an unbiased and non-selected series of stillborns.

No abstract

The Wisconsin Stillbirth Service Project (WiSSP) is a community-based program for the investigation of the cause of fetal death. From its inception in 1983 through July 1988, 629 referrals were made to WiSSP. All referrals were assessed for the presence of disruptional characteristics, and 23 were found to have major or primary disruptive effects. Most of these were either early amnion disruption/limb-body wall disruption (treated as a single group, since analysis suggests a continuum of clinical characteristics) and twin-twin disruptions. Therefore, disruptions accounted for 3.6% of all referrals (including liveborn and miscarriage referrals) to WiSSP. When only stillborn fetuses are considered, approximately 2.4% appear to have died because of disruptions. This makes disruptions one of the most frequent, identifiable causes of late intrauterine death. We estimate that 0.6-1.4% of all stillborn fetuses die because of early amnion disruption/limb-body wall disruption which, when taken with previous estimates of the frequency of such problems in early miscarriages and liveborn infants, suggests that these disruptions result in a 95% prenatal mortality rate. We suggest a unified model of likely pathogenetic mechanisms which may help explain the continuum of multisystem involvement seen in those with early amnion disruption/limb body wall disruption. In addition, 3 patients with atypical disruptions are reviewed who exemplify the difficulty and importance of differentiating disruptional and malformational processes.