Wisconsin Stillbirth Service Program: II. Analysis of diagnoses and diagnostic categories in the first 1,000 referrals

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.

Clinical value of postnatal autopsy and genetics consultation in fetal death

“…It has been shown that DNA extraction and accurate genotyping was possible on placental tissue of macerated fetuses [Derom et al, 1991]. Maceration should, however, not be regarded as a reason to exclude a genetics consultation [Pauli et al, 1994b]. A genetics consultation was obtained in our study only 12% of the time.…”

Foetal Autopsy-Categories and Causes of Death

“…Some type of fetal abnormalities like congenital anomalies, infection, non-immune hydrops, malnutrition etc. account for 25-40% of all stillbirths [6,7]. Pasztor et al, were able to provide exact cause of death in 57.9% cases in their study on identification of causes of still birth through autopsy and placental examination reports.…”

“…Cases with multiple congenital malformations were specific to autosomal recessive single gene disorder that have recurrence risk of 25% [9]. Majority of stillbirths attributed to fetal causes in the Winsconsin Stillbirth Service Program had a major structural malformation identified at autopsy [7]. Faye Petersen and colleagues [5] found that one-third of fetal deaths were caused by structural anomalies of which neural tube defects, hydrops and congenital heart disease were the most common.…”

“…Hypertensive disorders and diabetes are the two most commonly cited maternal diseases associated with 5-8% of stillbirths [7,11]. Causes like trauma, infection, cord accident are preventable causes, which if taken care of, would lead to a favourable outcome in future pregnancies.…”

Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry)

“…In a recent paper, Pauli and Reiser [1994] using a population of 1,000 stillborn infants in a pathology study, observed two cases with asplenia and five with polysplenia. These figures support our observation that polysplenia is more frequent than asplenia.…”