The aims were to investigate the accuracy of ultrasound in diagnosis of structural fetal anomalies with special focus on false positive findings (I), to evaluate the additional value of second trimester fetal MRI on pregnancy management (II-III) and to estimate the ascertainment in the Swedish Birth Defects Registry and incidence of spina bifida and cleft lip/palate (IV). Retrospectively, 328 fetal autopsies were identified where pregnancies were terminated due to ultrasonographically diagnosed fetal anomalies. In 175 (53.4 %) cases ultrasound and fetal autopsy were identical, in 124 (37.8 %) ultrasound was almost correct, in 23 (7.0 %)  ultrasound diagnoses could not be verified, but fetal autopsy showed other anomalies with at least the same prognostic value and in six (1.8 %)  ultrasound diagnosis could not be verified and autopsy showed no or less severe anomalies (I). Prospectively, 29 pregnancies with CNS- (II) and 63 with non-CNS-anomalies (III) were included. In the CNS study MRI provided no additional information in 18 fetuses (62 %), additional information without changing the management in 8 (28 %) and additional information altering the pregnancy management in 3 (10%). In the non-CNS study the corresponding figures were 43 (68 %), 17 (27 %) and three (5 %), respectively. MRI in the second trimester might be a clinically valuable adjunct to ultrasound for the evaluation of CNS anomalies, especially when the ultrasound is inconclusive due to maternal obesity (II) and in non-CNS anomalies in cases of diaphragmatic hernia or oligohydramnios (III). In newborns, the ascertainments of birth defects are relatively high and assessable, but in pregnancy terminations they are lower or unknown. The incidence of newborns with spina bifida has decreased because of an increased rate of pregnancy terminations (>60%). There is room for improvement concerning the reporting of anomalies from terminated pregnancies (IV).

Indiana University-Purdue University Indianapolis (IUPUI) / Consistent under-reporting of autism cases by Indiana physicians to the Indiana Birth Defects and Problems Registry (IBDPR) has made quality autism-related data very difficult to obtain (Indiana Birth Defects and Problems Registry [IBDPR], 2011). As a result, the Indiana State Department of Health (ISDH) currently also utilizes data from billing information that it receives from hospital discharges. However, such cases must be investigated further because autism is often merely suspected as a possibility in the discharge data. A chart auditor must therefore review the child’s chart to determine if the condition is confirmed. Meanwhile, the Indiana Department of Education (IDOE) has a different diagnostic procedure from physicians for determining whether a student has an Autism Spectrum Disorder (ASD), which qualifies him or her for special education. A physician diagnosis of autism does not guarantee that a child will receive special education from public schools. With all of these current complications surrounding autism, announced changes in the definition of autism by the American Psychiatric Association (APA) will likely have effects on both the special education field and the public health field. There is a possibility that children who had previously received special education could cease to maintain their eligibility and may find it difficult to obtain benefits. The IDOE may find it necessary to reevaluate their criteria for determining special education eligibility. Additionally, public health officials may see the definition changes affect the number of autism cases they perceive their populations to have, thus impacting community and policy decisions. This study was performed as an attempt to investigate and compare the sources used by the IBDPR to obtain autism data, and determine whether or not the resulting data creates an accurate depiction of the autistic population of Indiana. It was also performed to speculate whether a stricter definition of autism will result in a higher quality of data for the IBDPR and a more consistent view on the disorder between the ISDH and the IDOE. Perhaps from such consistency and simpler definitions, future recorded data will more closely resemble that of reality, enabling the ISDH to utilize the IBDPR to its full extent. Using current definitions for an exploratory analysis of data from the past five years, a discrepancy clearly exists between the IBDPR and the reality of the population of Indiana.