Auf der Grundlage pränatal-sonographischer Befunde werden bei schweren, nichttherapierbaren Fehlbildungen vorzeitige Schwangerschaftsbeendigungen durchgeführt. Vor diesem Hintergrund ist es unbedingt erforderlich, Qualitätskontrollen der pränatal-sonographischen Diagnostik und der Fetalpathologie vorzunehmen. Dabei liegt der Schwerpunkt in der Aufdeckung möglicher Fehlerursachen differenter Befunde zwischen der pränatal-sonographischen Diagnostik und der Fetalpathologie und deren Beseitigung. Mögliche Fehlerursachen für Fehldiagnosen werden dargestellt und kategorisiert sowie die Fehldiagnosen einer Fallgruppe nach ihren Ursachen analysiert. Anschließend werden Vorschläge zur Reduktion vermeidbarer Fehler gemacht. In der vorliegenden Arbeit wurden 119 Autopsiefälle, davon 77 % induzierte Aborte, 9 % Spontanaborte und 11 % Totgeborene an der Frauenklinik der Charité Berlin aus dem Jahr 2000 ausgewertet. Es wurden alle pränatalen sonographischen und postmortalen pathologischen Befunde der betrachteten Fälle miteinander verglichen und auf Übereinstimmung überprüft. Insgesamt wurden 801 Einzeldiagnosen untersucht, deren Auswertung in 38,75 % identische Befunde ergab. Bei 8 % dieser Befunde mit bestätigten klinisch-pränatalen Diagnosen wurden durch die Fetalautopsie wesentliche Zusatzbefunde mit möglichen Auswirkungen auf das Schwangerschaftsmanagement oder das Wiederholungsrisiko erhoben. Der Anteil an falsch-negativen Diagnosen betrug 24 % aller Befunde. Der Anteil an falsch-positiven Diagnosen belief sich auf 25 % aller Befunde. 12 % der pränatal-sonographisch erhobenen Diagnosen konnten nicht mehr durch die pathologische Untersuchung verifiziert werden. Bei 0,25 % waren die Befunde inkomplett und ließen sich ebenfalls nicht in der pathologischen Untersuchung bestätigen. Im Gegensatz zu den Ergebnissen aller Einzelbefunde war die Zuverlässigkeit der sonographischen Hauptdiagnosen der betrachteten Fälle bedeutend besser. So waren unter den Totgeburten 90 % der pränatal-sonographischen Hauptdiagnosen korrekt, 5 % waren falsch-positiv und 5 % falsch-negativ. In der Gruppe der Spontanaborte und weiteren Abbrüche waren es 100 % identische Hauptdiagnosen. Bei den induzierten Aborten gab es 89 % korrekte sonographische Hauptdiagnosen, 4,3 % falsch-positive und 6,7 % nicht-verifizierbare Hauptdiagnosen. Durch die zusätzliche Einbeziehung genetischer Diagnostik zeigte sich, dass der Anteil an korrekt erhobenen Diagnosen zur Beendigung der Schwangerschaft an der Charité Berlin im Jahr 2000 sogar bei 94 % lag. Häufigste Ursachen der Fehldiagnosen: - Kleinheit des Objekts: 32 % - Frühe Schwangerschaftswoche: 7,2 % - Artifizielle Befunde durch Autolyse: 7,1 % - Mangelnde topographische Zuordnung: 6,8 % - Austrocknung: 5 % - Schäden bei Passage des Geburtskanals: 4,8 % - Sonstiges: 37,1 % In dieser Arbeit wurden erstmalig Häufigkeiten von Fehlerursachen herausgearbeitet, die es ermöglichen, konkrete Verbesserungen einzuführen. Diese wurden im Abschnitt 5.3.2 erläutert und hier kurz zusammengefasst. - Möglichst frühzeitige Sektion des Feten - Bessere und kürzere Lagerung und Transport des Feten - Einsatz schonender Abbruchverfahren - Intensive Ausbildung sicherstellen - Konsultation durch erfahrene Kollegen ermöglichen - Bei Oligohydramnie Fruchtwasser-Instillation, Drehung des Kindes, Umlagerung der Patientin - Bei maternaler Adipositas: erfahrene Untersucher, intensive Untersuchung - Bei Schallauslöschung Wendung des Kindes, Umlagerung der Patientin - Vermehrt Verwendung von Vierkammerblick, cw-Doppler, Videosequenzen - Kenntnis der verwendeten Ultraschalltechnik, Wartung - Bei früher SSW Wiederbestellung der Patientin in späterer SSW / Introduction: The significance of the ultrasound screening lies in prognosis and predication for the management of the pregnancy and further pregnancies. With respect to incurable malformations sometimes a termination of the pregnancy is necessary. After the termination of such a pregnancy an autopsy of the fetus is performed to verify the prenatal diagnosis. Sometimes remain differences between the prenatal and the postmortal examination. The sources for different diagnoses are analysed in the view to make suggestions for the reduction of avoidable mistakes. Material and methods: The here presented study offers a systematic analysis of the differences between prenatal and postmortal examination. We divided the sources of the differences into fetal, maternal, temporal, arteficial, technical and subjective factors. We examined all fetal autopsies at the institute of pathology of the Charité Berlin of the year 2000 to test the feasibility of the method. Within the retrospective study we analysed 119 autopsies of fetuses. The gestational age varied between the 13th and 36th week. For the characterisation of the results of the comparison we defined the following score values: id: identical, idz: identical, but additional diagnosis, f-p: false positive ultrasound diagnoses, f-n: false negative ultrasound diagnoses, n-v: not validatable morphological correlate - due to damages, ik: incomplete diagnoses, VD: ultrasound suspicion diagnosis Results: For all diagnoses: For all of the 119 autopsies 801 separate diagnoses and 67 suspicious diagnoses have been recorded (Tab1). We found in 38,75% of the diagnoses identical and in 8% additional diagnoses. The amount of prenatal-sonographic false-negative diagnoses was 24% and the amount of false-positive diagnoses was 25%. About 12% of the prenatal sonographic diagnoses couldn't be verified during autopsy. Main diagnoses: For the induced abortions had been 89% correct sonographic main diagnoses, 4,3% had been false-positive and 6,7% couldn't be verified. The results are listed with the number of diagnoses and the percentual frequence in (%) and the number of suspicous diagnoses and the percentual frequence in(%). - identical (id): 239 (30,75%); 25 (38%) - Additional (idz): 66 (8%); 9 (13%) - false-positive (f-p): 203 (25%); 23 (34%) - false-negative (f-n): 196 (24%); 4 (6%) - not validatable (n-v): 95 (12%); 6 (9%) - Incomplete (ik): 2 (0,25%); 0 (0%) - Total: 801 (100%); 67 (100%) In our study it was possible to analyse the dependency of differences between prenatal and post mortal examination with respect to the influencing error categories like the followings. Sources and Frequence of different diagnoses and the percentual frequence in (%): - Smallness of the object: 32 % - Early gestational age: 7,2 % - Artificial diagnoses by autolysis: 7,1 % - Lack of topographic relations: 6,8 % - Withering of extremities: 5 % - Destruction by abortion: 4,8 % - Others: 37,1 % Conclusion: The aim of the presented study was to investigate the reasons for differences between prenatal and post mortal examination and to analyse the specific influence of the different error categories. - Suggestions to reduce the perinatal management - Early autopsy of the fetus - Better and shorter transport and storage of the fetus - Use of mild methods of abortion - Guarantee of intensive education - Consultation of experienced colleagues - Oligohydramnia: instillation of amniotic fluid, rotation of baby, rotation of mother - Maternal obesity: experienced examiner - Sonographic artefacts: rotation of the baby, rotation of the mother - Use of four-chamber-view, cw-Doppler, video sequences - Knowledge of the used sonographic technologies - In early gestational age new examination in later gestational age

Background: There are few studies on the uptake of non-invasive prenatal screening, but those available suggest substantial variation in uptake in the initial years in which it was offered. There is a need to update the earlier evidence and determine whether there has been any change in usage trends as the number of users have increased. This will help inform policy makers about NIPT uptake under currently existing policies and guidelines which can help inform whether to maintain or refine policies on NIPT. Objectives: The primary objective of this thesis was to investigate recent trends in NIPT utilization, and the secondary objective was to identify differences between pregnant individuals aged 40 years and above and/or with a history of previous aneuploidy who opted for first-tier (first-line screening) or second-tier (contingent screening) NIPT and pregnant individuals aged less than 40 years with no history of previous aneuploidy. Methods: This retrospective cohort study used a province wide birth registry from Ontario and the population studied comprised pregnant individuals with an expected date of delivery from August 1st, 2016 to March 31st, 2020. Results: Of 536,748 pregnant individuals resident in Ontario during the study period, 27,733 were classified as high-risk of giving birth to a baby with a chromosomal aneuploidy and 509,015 were classified as low-risk of giving birth to a baby with a chromosomal aneuploidy. Uptake of NIPT has increased every year since 2016. We found substantial variation in NIPT between regions within the province. Highest uptake was found in urban areas, highest neighbourhood of income and education quintiles, high-risk population, among those with a prenatal care visit in the first trimester, multiple pregnancy, multigravidity, body mass index within the normal range (18.5-24.9 kg/m2), and OHIP funding. Conclusion: Our results suggest a need to provide more education/training about NIPT and funding eligibility to health professionals and pregnant individuals, including low-risk pregnant individuals in the first-tier (first-line screening) NIPT funding policy, to ensure equitable assess.

The field of prenatal screening and diagnosis has developed rapidly over the past half-century, enabling possibilities for detecting anomalies in reproduction that were never before contemplated. A simple blood sample can aid in the identification of several conditions in the fetus early in the pregnancy. If a fetus is found to be affected by Down syndrome, anencephalus, spina bifida, or Edward's syndrome, a decision must then be made whether to continue or terminate the pregnancy. As prenatal screening becomes increasingly commonplace and part of routine maternal care, researchers are faced with the challenge of understanding its effects at the level of the population and monitoring trends over time. Greater uptake of prenatal screening, when followed by prenatal diagnosis and termination, has important implications for both congenital anomaly surveillance and infant and fetal mortality indicators. Research in Canada suggests that this practice has led to reductions in the congenital-anomaly specific infant mortality rate and increases in the stillbirth rate.(1, 2) The current study is a population-based, epidemiological exploration of demographic predictors of maternal serum screening (MSS) and amniocentesis uptake, with special attention to variations in birth outcomes resulting from different patterns of use. To accomplish our objectives, multiple data sources (vital statistics, hospital and physician services, cytogenetic and MSS laboratory information) were compiled to create a comprehensive maternal-fetal-infant dataset. Data spanned a six-year period (2000-2005) and involved 93,171 pregnancies. A binary logistic regression analysis found that First Nations status, rural-urban health region of residence, maternal age group, and year of test all significantly predicted MSS use. Uptake was lower in women living in a rural health region, First Nations women, and those under 30 years of age. The study dataset identified ninety-four terminations of pregnancy following detection of a fetal anomaly (TOPFA), which led to a lower live birth prevalence of infants with Down syndrome, Trisomy 18, and anencephalus. While a significant increasing trend was observed for the overall infant mortality rate in Saskatchewan between 2001-2005, a clear trend in one direction or the other could not be seen in regards to infant deaths due to congenital anomaly. First Nations status and maternal age were important predictors of both MSS and amniocentesis testing, and appeared to influence the decision to continue or terminate an affected pregnancy. The fact that First Nations women were less likely to screen (9.6% vs. 28.4%) and to have diagnostic follow-up testing (18.5% vs. 33.5%), meant that they were less likely to obtain a prenatal diagnosis when the fetus had a chromosomal anomaly compared to other women (8.3% vs. 27.0%). This resulted in a lower TOPFA rate compare to the rest of the population (0.64 vs. 1.34, per 1,000 pregnancies, respectively) and a smaller difference between the live birth prevalence and incidence of Down syndrome and Trisomy 18 for First Nations women. Women under 30 years of age were much less likely to receive a prenatal diagnosis when a chromosomal anomaly was present (18.4% vs. 31.8%). While risk for a chromosomal anomaly is considerably lower for younger mothers, 53.5% of all pregnancies with chromosomal anomalies and 40.7% of DS pregnancies belonged to this group. Consistent with other studies pregnancy termination rates following a prenatal congenital anomaly diagnosis are high (eg. 74.1% of prenatally diagnosed Down syndrome or Trisomy 18 cases), but these rates may be misleading in that they are based on women who chose to proceed to prenatal diagnosis. The fact that two-thirds (67.3%) of Saskatchewan women who received an increased-risk result declined amniocentesis, helps to put this finding into context. Strong surveillance systems and reasonable access to research datasets will be an on-going challenge for the province of Saskatchewan and should be viewed as a priority. Pregnancies and congenital anomalies are two particularly challenging outcomes to study in the absence of perinatal and congenital anomaly surveillance systems. Still pregnancies that never reach term must be accounted for, in order to describe the true state of maternal-fetal-infant health and to study its determinants. While our study was able to identify some interesting trends and patterns, it is only a snapshot in time. Key to the production of useful surveillance and evaluation is timely information. The current system is not timely, nor is it user-friendly for researchers, health regions or governments. Data compilation for the current study was a gruelling and cumbersome process taking more than five years to complete. A provincial overhaul is warranted in both the mechanism by which researchers access data and in the handling of data. The Better Outcomes Registry & Network (BORN) in Ontario is an innovative perinatal and congenital anomaly surveillance system worthy of modelling.(3) Academic papers in non-ethics' journals typically focus on the technical or programmatic aspects of screening and do not effectively alert the reader to the complex and profound moral dilemmas raised by the practice. A discussion of ethics was felt necessary to ensure a well-rounded portrayal of the issue, putting findings into context and helping to ensure their moral relevance did not remain hidden behind the scientific complexities. Here I lay out the themes of the major arguments in a descriptive manner, recognizing that volumes have been written on the ethics of both screening and abortion. A major ethical tension arising within the context of population based prenatal screening is the tension between community morality and the principle of respect for personal autonomy. Prenatal screening and selective termination have been framed as a purely private or medical matter, thereby deemphasizing the social context in which the practice has materialized and the importance of community values. I consider how a broader sociological perspective, one that takes into account the relevance of community values and limitations of the clinical encounter, could inform key practice and policy issues involving prenatal screening. It is my position that the community's voice must be invited to the conversation and public engagement processes should occur prior to any additional expansion in programming. I end with a look at how the community’s voice might be better heard on key issues, even those issues that at first glance seem to be the problems of individuals. As Rayna Rapp (2000) (4) poignantly observed, women today are 'moral pioneers' not by choice, but by necessity. By elucidating the effects of prenatal screening and the extent of the practice of selective termination in the province, the true occurrence of important categories of congenital anomalies in our province can be observed. Without this knowledge it is very difficult to identify real increases or decreases in fetal and infant mortality over time as the etiologies are complex. Evidence suggests a large and increasing impact of TOPFA on population-based birth and mortality statistics nationally, whereas in Saskatchewan the effect appears to be less pronounced. Appreciation of the intervening effect of new reproductive technologies will be increasingly important to accurate surveillance, research, and evaluation as this field continues to expand.