The aim was to explore experiences and needs of information following a prenatal diagnosis of congenital heart defect, and to assess the quality of publicly available information websites about congenital heart defects. Study I was a qualitative interview study that explored experiences among 11 parents to prenatally diagnosed children. Respondents tried to grasp the facts today while reflecting on the future, and personal contact with medical specialists was valued. The analysis showed that the Web contained an overwhelming amount of information. Study II was a qualitative interview study that explored experiences among 26 females and males 5-15 weeks after a prenatal diagnosis. Respondents hunted for information in a confusing reality, with a need for information about various topics and methods for information delivery. Although high satisfaction with the specialist information was described, the information was considered overwhelming and complex. Supplemental information was sought via the Web. Insufficient information about induced abortions was described. Study III was a quantitative study that explored content and quality of 67 English websites about congenital heart defects. Few websites included information about prenatal aspects, such as pregnancy termination. The overall quality was poor, especially reliability and information about treatment choices. Study IV was a mixed methods study that explored the quality of 10 Swedish websites about congenital heart defects, from the perspectives of 9 assessors with personal experience of a prenatal diagnosis. Quantitative Likert scale assessments were followed by written open-ended questions and focus group discussions. Quantitative assessments represented unfulfilled quality criterion for treatment choices, and partially fulfilled quality criteria for appearance, details, relevance, suitability and overall quality. Websites had significantly different scores for all investigated quality criteria. Various issues were highlighted in the responses to the open-ended questions and during the discussions, including inappropriate advertisements, biased information, poor illustrations, complex language and poor trustworthiness. In conclusion, expectant parents faced with a prenatal diagnosis of congenital heart defect in the fetus try to grasp the unexpected, an attempt that involves difficulties in relation to information. These are present during the consultation with health professionals and when searching for web-based information.

Philosophiae Doctor - PhD / Background: Syphilis transmission remains a global problem with an estimated 12 million people infected each year. Ninety percent of syphilis cases occur in low income countries. Syphilis is a serious source of adverse pregnancy outcomes for both mother and infant. Ideally, syphilis screening should be provided as part of a package of maternal and newborn health-care services. This thesis reports on a pilot intervention study to develop, implement and evaluate a point of care test for syphilis in antenatal care services in rural Burkina Faso. Methods: This study used a pre post intervention mixed methods quasi-experimental design with a group of health facilities offering ANC services (primary health centers in rural area) as the sampling units. This study was conducted in three phases, which consisted of a situational analysis using qualitative methods (Phase 1), selecting an appropriate test through evaluating 4 candidate tests and the participatory design and implementation of an intervention that included onsite training, provision of supplies and medicines, quality control and supervision (Phase 2), and an evaluation combining review of record tools, interviews, time motion study and estimating incremental costs (Phase 3). The conceptual framework draws on multilevel assessment (MLA), policy triangle framework, MRC framework for designing complex interventions and the Normalization Process Model (NPM). Methods included document review, seventy five interviews were conducted with health providers, district managers, facility managers, traditional healers, pregnant women, community health workers, and Non-Governmental Organizations (NGO) managers in phase I and fourteen in phase III, non-participant observation, time-motion study, incremental cost analysis, and sensitivity, specificity and ease of use analysis of four candidate point-of care tests. Data were collected between 2012 and 2014. Qualitative data were analyzed through thematic analysis supported by Nvivo software. Quantitative data were analyzed through descriptive statistics such as frequency, mean and median supported by SPSS. Findings: Phase I identified barriers to implementation and uptake of syphilis testing at health provider and community levels. The most important barriers at provider level included fragmentation of services, poor communication between health workers and clients, failure to prescribe syphilis test, and low awareness of syphilis burden. Cost of testing, distance to laboratory and lack of knowledge about syphilis were identified as barriers at community level. Phase II: Alere DetermineTM Syphilis was the most sensitive of the four point-of-care tests evaluated. The components of the intervention were successfully implemented in the selected health facilities. Overall, phase III showed that it is feasible and acceptable to introduce a point of care test for syphilis in antenatal care services at primary health care level using the available staff. The intervention was reported as acceptable, but of 812 pregnant women who came for their first visit 39% were screened during the study period. Rural facilities had higher coverage (66.8%) than the urban ones (25.6%). Quality control found no discordance between the rapid test and TPHA results. The average cost of ANC per unscreened pregnant woman was 3.11 USD (±0.14) vs 5.06 USD (±0.16) per screened woman. The main cost driver was the material costs notably the test itself. The test’s cost is comparable to HIV test costs, but funder support for integrating this additional test is less readily available than for HIV tests. Conclusions: The findings suggested that an intervention that introduces point of care test for syphilis at antenatal care services is feasible, acceptable, and of comparable costs to HIV screening in pregnancy. Nonetheless, instructions and supervision need to be clearer to achieve optimal levels of screening and quality control, and barriers identified by health workers need to be overcome. The point-of care test for syphilis is likely to be acceptable by health workers as a routine service and incorporated as a normal practice in Burkina Faso context. / This research was made financially possible by the UNICEF/UNDP/World Bank/WHO Special Programme for Research and Training in Tropical Diseases (TDR); and the African Doctoral Dissertation Research Fellowship (ADDRF 2012) award offered by the African Population and Health Research Center (APHRC) in partnership with the International Development Research Centre (IDRC).

No description available.

No description available.

Amniocentesis is one of the most widely used prenatal diagnostic techniques for congenital disorders. It was hypothesized that the psychological responses of mothers and fathers to amniocenthesis during high-risk pregnancies would be positively correlated on scales of Symptomatology (Anxiety, Depression, Anger, and Somatic Complaints) and Well-Being (Relaxed, Contented, Friendliness, and Somatic Well-Being). It was also hypothesized that Symptomatology would be negatively correlated with Well-Being. Nineteen couples, who were referred by their physicians, voluntarily participated in the study. Each partner completed the Symptom Questionnaire (Kellner, 1983), a self-rating scale of Symptomatology and Well-Being, in addition to the Pre-Amniocentesis and Post-Amniocentesis Questionnaires (original questionnaires developed for this study) at intervals prior to and following the procedure, while awaiting results. A Pearson product-moment correlation of the total scores revealed a positive correlation (p < 0.5) between the scores of fathers and mothers on the Symptomatology Scale, both pre- and post-amniocentesis (r = .47 and .47). In addition, there was a significant negative correlation (p < .05) between Symptomatology and Well-Being scores for both mothers (r = -.55 and -.60) and fathers (r = -.48 and -.74) at the pre- and post-amniocentesis periods, respectively. The hypothesis cannot be completely accepted because the positive correlation does not exist at the post-amniocentesis level. Mothers appear to experience more Symptomatology and less Well-Being than fathers at the post-amniocentesis level. The results are interpreted to suggest that fathers and mothers may both benefit from pre- and post-amniocentesis supportive intervention.

Yes / perinatal palliative care services are increasingly available globally, offering a range of clinical and psychological support services to families during pregnancy, in the neonatal period and following the death of a baby with a life-limiting or life-threatening condition. Little is understood about the role of children’s hospice care and how it contributes to effective perinatal palliative care. Design: The study aims to answer the question ‘what is the role of children’s hospices in the provision of perinatal palliative care and advance care planning in the United Kingdom?’ Methods: An electronic survey was sent to all 54 children’s hospices in the United Kingdom between May and June 2022. Results: 30 hospices responded, representing 54% of the sector. All regions of all four counties are represented. Numbers of referrals to hospices for perinatal palliative care have increased significantly over the last five years. Hospices provide a range of services for families and babies, usually from the point of diagnosis or recognition of a life-limiting or life-threatening condition, underpinned with counselling and emotional support. Hospices worked with a range of professionals and services, most commonly fetal medicine and neonatal services. Advance care plans were an important element of effective perinatal palliative care, strengthening parent-professional and interprofessional relationships. Conclusion: Children’s hospice services play an important and growing role in the perinatal care of babies and families following the diagnosis or recognition of a life limiting or life-threatening condition. The family centred approach to care, from a broad, biopsychosocial perspective means that hospices make a unique and meaningful contribution to both the clinical and psychological needs of families. / University of Bradford. Grant Number: DA5151. SURE Research Project

Chen, Zhang. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2011. / Includes bibliographical references (p. 109-114). / Abstracts in English and Chinese. / ABSTRACT --- p.I / 摘要 --- p.III / ACKNOWLEDGEMENTS --- p.IV / PUBLICATIONS --- p.VI / CONTRIBUTORS --- p.VII / TABLE OF CONTENTS --- p.VIII / LIST OF TABLES --- p.XIII / LIST OF FIGURES --- p.XIV / LIST OF ABBREVIATIONS --- p.XVI / Chapter SECTION I : --- BACKGROUND --- p.1 / Chapter CHAPTER 1: --- PRENATAL DIAGNOSIS OF FETAL TRISOMY BY NEXT GENERATION SEQUENCING TECHNOLOGY --- p.2 / Chapter 1.1 --- FETAL TRISOMY --- p.2 / Chapter 1.2 --- CONVENTIONAL PRENATAL DIAGNOSIS OF FETAL TRISOMIES --- p.3 / Chapter 1.3 --- CELL FREE FETAL D N A AND ITS APPLICATION IN PRENATAL DIAGNOSIS --- p.5 / Chapter 1.4 --- NEXT GENERATION SEQUENCING TECHNOLOGY --- p.5 / Chapter 1.5 --- SUBSTANTIAL BIAS IN THE NEXT GENERATION SEQUENCING PLATFORM --- p.9 / Chapter 1.6 --- PRENATAL DIAGNOSIS OF TRISOMY BY NEXT GENERATION SEQUENCING --- p.10 / Chapter 1.7 --- AIMS OF THIS THESIS --- p.11 / Chapter SECTION I I : --- MATERIALS AND METHODS --- p.13 / Chapter CHAPTER 2: --- METHODS FOR NONINVASIVE PRENATAL DIAGNOSIS OF FETAL TRISOMY MATERNAL PLASMA DNA SEQUENCING --- p.14 / Chapter 2.1 --- STUDY DESIGN AND PARTICIPANTS --- p.14 / Chapter 2.1.1 --- Ethics Statement --- p.14 / Chapter 2.1.2 --- "Study design, setting and participants" --- p.14 / Chapter 2.2 --- MATERNAL PLASMA D N A SEQUENCING --- p.17 / Chapter 2.3 --- SEQUENCING DATA ANALYSIS --- p.18 / Chapter SECTION I I I : --- TRISOMY 13 AND 18 DETECTION BY THE T21 BIOINFORMATICS ANALYSIS PIPELINE --- p.21 / Chapter CHAPTER 3: --- THE T21 BIOINFORMATICS ANALYSIS PIPELINE FOR TRISOMY 13 AND 18 DETECTION --- p.22 / Chapter 3.1 --- INTRODUCTION --- p.22 / Chapter 3.2 --- METHODS --- p.23 / Chapter 3.2.1 --- Bioinformatics analysis pipeline for trisomy 13 and 18 detection --- p.23 / Chapter 3.3 --- RESULTS --- p.23 / Chapter 3.3.1 --- Performance of the T21 bioinformatics analysis pipeline for trisomy 13 and 18 detection --- p.23 / Chapter 3.3.2 --- The precision of quantifying chrl 3 and chrl 8 --- p.27 / Chapter 3.4 --- DISCUSSION --- p.29 / Chapter SECTION IV : --- IMPROVING THE T21 BIOINFORMATICS ANALYSIS PIPELINE FOR TRISOMY 13 AND 18 DETECTION --- p.30 / Chapter CHAPTER 4: --- IMPROVING THE ALIGNMENT --- p.31 / Chapter 4.1 --- INTRODUCTION --- p.31 / Chapter 4.2 --- METHODS --- p.32 / Chapter 4.2.1 --- Allowing mismatches in the index sequences --- p.32 / Chapter 4.2.2 --- Calculating the mappability of the human reference genome --- p.33 / Chapter 4.2.3 --- Aligning reads to the non-repeat masked human reference genome --- p.34 / Chapter 4.2.4 --- Trisomy 13 and 18 detection --- p.34 / Chapter 4.3 --- RESULTS --- p.34 / Chapter 4.3.1 --- Increasing read numbers by allowing mismatches in the index sequences --- p.34 / Chapter 4.3.2 --- Increasing read numbers by using the non-masked reference genome for alignment . --- p.38 / Chapter 4.3.3 --- Allowing mismatches in the read alignment --- p.42 / Chapter 4.3.4 --- The performance of trisomy 13 and 18 detection after improving the alignment --- p.47 / Chapter 4.4 --- DISCUSSION --- p.50 / Chapter CHAPTER 5: --- REDUCING THE GC BIAS BY CORRECTION OF READ COUNTS --- p.53 / Chapter 5.1 --- INTRODUCTION --- p.53 / Chapter 5.2 --- METHODS --- p.54 / Chapter 5.2.1 --- Read alignment --- p.54 / Chapter 5.2.2 --- Calculating the correlation between GC content and read counts --- p.55 / Chapter 5.2.3 --- GC correction in read counts --- p.55 / Chapter 5.2.4 --- Trisomy 13 and 18 detection --- p.56 / Chapter 5.3 --- RESULTS --- p.56 / Chapter 5.3.1 --- GC bias in plasma DNA sequencing --- p.56 / Chapter 5.3.2 --- Correcting the GC bias in read counts by linear regression --- p.59 / Chapter 5.3.3 --- Correcting the GC bias in read counts by LOESS regression --- p.65 / Chapter 5.3.4 --- Bin size --- p.72 / Chapter 5.4 --- DISCUSSION --- p.75 / Chapter CHAPTER 6: --- REDUCING THE GC BIAS BY MODIFYING THE GENOMIC REPRESENTATION CALCULATION --- p.77 / Chapter 6.1 --- INTRODUCTION --- p.77 / Chapter 6.2 --- METHODS --- p.78 / Chapter 6.2.1 --- Modifying the genomic representation calculation --- p.78 / Chapter 6.2.2 --- Trisomy 13 and 18 detection --- p.78 / Chapter 6.2.3 --- Combining GC correction and modified genomic representation --- p.78 / Chapter 6.3 --- RESULTS --- p.79 / Chapter 6.3.1 --- Reducing the GC bias by modifying genomic representation calculation --- p.79 / Chapter 6.3.2 --- Combining GC correction and modified genomic representation --- p.86 / Chapter 6.4 --- DISCUSSION --- p.89 / Chapter CHAPTER 7: --- IMPROVING THE STATISTICS FOR TRISOMY 13 AND 18 DETECTION --- p.91 / Chapter 7.1 --- INTRODUCTION --- p.91 / Chapter 7.2 --- METHODS --- p.92 / Chapter 7.2.1 --- Comparing chrl 3 or chrl8 with other chromosomes within the sample --- p.92 / Chapter 7.2.2 --- Comparing chrl 3 or chrl 8 with the artificial chromosomes --- p.92 / Chapter 7.3 --- RESULTS --- p.93 / Chapter 7.3.1 --- Determining the trisomy 13 and 18 status by comparing chromosomes within the samples --- p.93 / Chapter 7.3.2 --- Determining the trisomy 13 and 18 status by comparing chrl3 or chrl 8 with artificial chromosomes --- p.97 / Chapter 7.4 --- DISCUSSION --- p.100 / Chapter SECTION V : --- CONCLUDING REMARKS --- p.102 / Chapter CHAPTER 8: --- CONCLUSION AND FUTURE PERSPECTIVES --- p.103 / Chapter 8.1 --- THE PERFORMANCE OF THE T21 BIOINFORMATICS ANALYSIS PIPELINE DEVELOPED FOR TRISOMY 21 DETECTION IS SUBOPTIMAL FOR TRISOMY 13 AND 18 DETECTION --- p.103 / Chapter 8.2 --- THE ALIGNMENT COULD BE IMPROVED BY ALLOWING ONE MISMATCH IN THE INDEX AND USING THE NON-REPEAT MASKED HUMAN REFERENCE GENOME AS THE ALIGNMENT REFERENCE --- p.104 / Chapter 8.3 --- THE PRECISION OF QUANTIFYING CHR13 AND CHR18 COULD BE IMPROVED BY THE G C CORRECTION OR THE MODIFIED GENOMIC REPRESENTATION --- p.104 / Chapter 8.4 --- THE STATISTICS FOR TRISOMY 13 AND 18 DETECTION COULD BE IMPROVED BY COMPARING CHR13 OR CHR18 WITH ARTIFICIAL CHROMOSOMES WITHIN THE SAMPLE --- p.105 / Chapter 8.5 --- PROSPECTS FOR FUTURE WORK --- p.106 / REFERENCE --- p.109

Abstract : Current prenatal diagnosis depends on invasive procedures and is thus offered only to high-risk pregnancies. Development of non-invasive prenatal diagnosis (NIPD) would change the risk-benefit ratio and make it likely that more women would benefit from prenatal testing. Scientists have documented the presence of rare fetal cells in maternal blood and envisioned targeting them with specific markers and their use in NIPD. Considering their extremely low frequency in maternal blood, fetal cells have been difficult to retrieve and use in clinical practice. Therefore, there is a pressing need for systematic sequential studies to evaluate their feasibility in NIPD. Generally, detection of rare cells within a large cell population carries great potentialities for the prospects of cancer management and NIPD. Manual scanning is very cumbersome and time-consuming Therefore; the first part of our project was, dedicated to the optimization of an effective strategy to evaluate retrieval of rare cells. We have developed a way of distributing a controlled number of target cells among hundreds of thousands of other cells on microscope slides. This strategy allows the precise evaluation of the retrieval of rare events and the comparizon of the efficacy of different techniques and enrichment approaches by knowing the definite number and locations of target cells on the slides. Furthermore, it allows the evaluation of hybridization of missed events. We have also developed a robust custom-made detection algorithm for rare cells using the MetaSystems automated platform and have used this strategy in the validation of manual and automatic scanning of 60 slides with a pre-defined number of rare male cells among a pure population of female cells using XY-FISH. Consequently, we tested the developed classifier for the detection of real fetal cells from maternal blood in both normal and aneuploid pregnancies with Down syndrome. We further evaluated the number of fetal cells with different methods of enrichments in the first and second trimesters. The data collected confirmed the early presence of fetal cells in all of the pregnancies tested and their frequencies were higher in cases of aneuploidies. Fetal cells are in a state of dynamic change throughout the pregnancy. Higher numbers of these cells can be obtained by optimizing the harvest time and methods of enrichment. We found that automatic scanning is more sensitive and reliable than manual detection. Furthermore, it alleviates the burden of scanning large numbers of cells and thus is more suitable for clinical application. We also demonstrated the feasibility of using rare cells in NIPD. Five microdissected amniotic fetal cells from 26 cases of normal and aneuploid pregnancies were quite enough to provide accurate NIPD through using whole genome amplification coupled with QF-PCR. Our findings laid the ground for the use of rare fetal cells in maternal blood for NIPD. // Résumé : Le diagnostic prénatal résulte encore aujourd’hui de procédures invasives, qui présentent des risques pour la grossesse. Le développement du diagnostic prénatal non-invasif (DPNI) changerait le rapport risque : bénéfice, rendant le diagnostic prénatal plus intéressant pour les femmes enceintes. Plusieurs chercheurs ont montré la présence de cellules fœtales dans le sang maternel et des travaux ont été entrepris afin de les cibler et de les utiliser éventuellement en DPNI. Toutefois, la faible concentration des cellules fœtales dans le sang maternel réduit les possibilités d’isolement ainsi que celles de leur utilisation en clinique. Un autre aspect technique du DPNI, le balayage manuel, est très laborieux, surtout en terme de temps technique. Il y a donc un besoin certain pour des études approfondies afin d’évaluer et d’améliorer la faisabilité du DPNI. La détection d’évènements rares dans une grande population cellulaire offre un potentiel pour le diagnostic en oncologie mais aussi en diagnostic prénatal. Dans cette thèse, la première étude était dédiée à l’optimisation d’une stratégie pour détecter les cellules rares. Nous avons développé une méthode d’étalement sur lame d’un nombre précis de cellules cibles parmi des centaines de milliers de cellules. Cette stratégie a permis d’évaluer le taux de détection d’évènements rares et de comparer l’efficacité des techniques d’enrichissement en connaissant le nombre exact et la localisation de cellules cibles sur les lames. De plus, il a été possible d’évaluer les problèmes d’hybridation des évènements manqués. Nous avons, par la suite, développé un algorithme robuste pour la détection de cellules rares en utilisant la plateforme de microscopie automatisée MetaSystems et utilisé cette approche dans la validation des balayages manuel et automatique d’un nombre précis de cellules mâles parmi une large population de cellules femelles marquées avec la technique FISH. Nous avons testé ce classificateur avec des échantillons de sang de femmes enceintes de grossesses normales et aneuploïdes et évalué la fréquence de cellules fœtales isolées par différentes méthodes d’enrichissement au cours des premier et second trimestres de grossesse. Les données accumulées ont confirmé la présence de cellules fœtales chez toutes les grossesses et leur fréquence plus élevée dans les grossesses aneuploïdes. Le nombre de cellules fœtales est dynamique tout au long de la grossesse. De plus, un nombre plus élevé de cellules fœtales peut être obtenu en optimisant le moment du prélèvement et les méthodes d’enrichissement. De plus, le balayage automatique s’est avéré plus sensible et constant que le balayage manuel, ce qui permet de balayer un grand nombre de cellules et devient plus approprié pour une application clinique. Nous avons aussi montré la faisabilité d’utiliser des cellules fœtales dans le cadre du DPNI. Cinq cellules amniotiques microdisséquées, provenant de grossesses normales et aneuploïdes, ont suffi pour poser un diagnostic prénatal par une combinaison de l’amplification du génome complet et de la technique QF-PCR (réaction quantitative en fluorescence d’amplification entraînée par une polymérase) permettant la détection d’anomalies chromosomiques. Nos résultats ouvrent la voie à l’utilisation de cellules fœtales dans le sang maternel pour le DPNI.

Background Established in 1999, the Swedish Maternal Health Care Register (MHCR), collects data on pregnant women and their offspring. Since 2013, the MHCR has been a part of the Swedish Pregnancy Register (SPR). Data are entered manually into the MHCR by midwives in antenatal care (ANC). ANC is primarily organised within public primary health care in Sweden. Midwives are the primary providers of health care during pregnancy, and they are responsible for providing information about prenatal diagnosis to expecting parents. Aims This thesis investigated internal validity of MHCR data, and user’s experiences of the MHCR. Prenatal diagnosis was explored in regard to local guidelines and to background characteristics and pregnancy outcomes. Factors affecting the work situation for midwives in ANC, as well as their experiences on informing expecting parents about prenatal diagnosis were investigated. Methods Study I, II and III were cross-sectional studies. Study I included data from MHCR and medical records on 878 pregnancies during 2011. Study III analysed data from MHCR/SPR, in total 284,789 pregnancies for 2011 to 2013. Study II was a questionnaire study with a quantitative and a qualitative component, including 989 participants. Study IV was a qualitative study applying qualitative content analysis. Fifteen midwives participated in individual, telephone interviews. Main findings Overall, the degree of coverage of variables was high in the MHCR as well as in the medical records. For 17 of the 27 variables, agreement of data in both data sources reached 95% or more. Possible systematic errors were identified for two variables (Paper I). Midwives valued MHCR generally positively, although manual registration of data into the MHCR was perceived burdensome. Foremost midwives engaged in supervision regularly accessed data on pregnant women at their own ANC clinic (Paper II). Offers on prenatal diagnosis varied considerably between the 21 Swedish counties during 2011 to 2013. Maternal age and educational level demonstrated strong associations with uptake of prenatal diagnosis (Paper III). Midwives in ANC reported their work load as manageable. Clinical guidelines, continuing education, and collaboration in the chain of care of pregnant women, were supportive factors for midwives work situation in antenatal care. Administrative work load was perceived as strenuous and informing expecting parents about prenatal diagnosis was challenging (Paper IV). Conclusions Data in the MHCR demonstrated sufficient internal validity. MHCR was an underutilised source in operational planning of ANC. Offers and uptake on prenatal diagnosis was unequally distributed in Sweden. Midwives enjoyed their work in ANC. Administrative work was strenuous and informing expecting parents about prenatal diagnosis was challenging. The register can further develop its report systems to be used in a higher extent in evaluation and planning of Swedish maternal health care services. Expecting couples in Sweden should be offered the same opportunities on prenatal diagnosis. Pedagogical tools may facilitate midwives mission to inform expecting parents with varying pre-understanding about prenatal diagnosis / Bakgrund Det svenska Mödrahälsovårdsregistret är ett nationellt kvalitetsregister som används inom mödrahälsovården för uppföljning av verksamheten, i förbättringsarbete och som underlag för forskning. Mödrahälsovårdsregistret startade 1999 och samlar in data på gravida kvinnor, förlossningar och nyfödda barn. Sedan 2013 är Mödrahälsovårdsregistret en del av Graviditetsregistret, som består av tre delregister; Mödrahälsovårdsregistret, Fosterdiagnostikregistret och det Obstetriska registret. Barnmorskor inom svensk mödrahälsovård registrerar data manuellt vid två tillfällen i registret, dels i anslutning till inskrivningsbesöket, och dels efter avslutad graviditet, senast 16 veckor efter förlossningen. Barnmorskor inom svensk mödrahälsovård har skyldighet att erbjuda blivande föräldrar information om fosterdiagnostik. Däremot utförs de fosterdiagnostiska undersökningarna på särskilda mottagningar, vanligen inom ramen för Sveriges kvinnokliniker. Med tidig fosterdiagnostik avses rutinultraljud i graviditetsvecka 17 till 20, kombinerat ultraljud och biokemiskt test (KUB), samt de invasiva undersökningarna fostervattenprov (AC) och korionvillibiopsi (CVS). Nästan alla gravida kvinnor kontrolleras inom mödrahälsovården. Majoriteten av mödrahälsovårdsmottagningarna bedrivs inom den offentliga primärvården. Barnmorskan arbetar självständigt och är ansvarig för kvinnor med okomplicerade graviditeter. Övriga uppdrag för barnmorskor inom svensk mödrahälsovård är, föräldrastödsverksamhet, rådgivning och förskrivning av preventivmedel, screening för livmoderhalscancer, samt utåtriktat arbete. I barnmorskans arbete ingår därutöver olika patientadministrativa uppgifter. Syfte Det övergripande syftet med avhandlingen var att undersöka det svenska Mödrahälsovårdsregistret ur följande aspekter: intern validitet i registerdata, användarnas erfarenheter, synpunkter och användning av registret samt registerutfall. Ytterligare syften var att undersöka stödjande och belastande faktorer för barnmorskans arbetssituation inom svensk mödrahälsovård och barnmorskors erfarenheter och synpunkter av att informera blivande föräldrar om fosterdiagnostik. vii Metod Studie I, II och III var tvärsnittsstudier. I Studie I jämfördes data i den medicinska journalen med motsvarande uppgifter i Mödrahälsovårdsregistret över 879 gravida kvinnor med ett förlossningsdatum under maj till juni 2011. Studie II var en enkätundersökning som riktade sig till samtliga barnmorskor inom svensk mödrahälsovård (N=989). Undersökningen genomfördes januari till mars 2012. I Studie III analyserades data på totalt 284,789 gravida kvinnor och deras nyfödda barn under perioden 2011 till 2013. Statistiska analyser som användes i Studie I, II och III var Cohen’s Kappa, Pearson’s Chi-två test, sensitivitet och specificitet, samt univariat och multivariat logistisk regressionsanalys. Studie IV var en kvalitativ studie där data insamlades vid individuella telefonintervjuer med totalt 15 barnmorskor verksamma vid olika mödrahälsovårdsmottagningar. Materialet analyserades med kvalitativ innehållsanalys. Resultat Variablerna uppvisade överlag en hög täckningsgrad i både Mödrahälsovårdsregistret och den medicinska journalen. Variabler gällande fosterdiagnostik uppvisade en något lägre täckningsgrad på cirka 90 %. Andelen identiska data i de båda datakällorna varierade från 73,9 % till 99,7 %. För 17 av de 27 undersökta variablerna var överensstämmelsen mellan de båda datakällorna, 95 % eller högre. Variabler relaterade till förlossningen (”enkelbörd/flerbörd”, ”levande fött barn”, och ”barnets kön”) var de variabler som uppvisade högst andel identiska uppgifter i de båda datakällorna. Systematiska fel identifierades för två variabler, ”andra trimester serum screening”, och ”antal barnmorskebesök”. Barnmorskor var överlag positiva till Mödrahälsovårdsregistrets webbapplikation, däremot upplevde en majoritet (70,7 %) av barnmorskorna med enbart patientarbete att den manuella registreringen var en betungande arbetsuppgift. Mödrahälsovårdsregistrets ingående variabler uppfattades som relevanta. I fritext frågorna kommenterades att en del variabler var onödiga, till exempel frågor om fosterdiagnostik medan andra variabler saknades i registret, exempelvis frågor om sjukdomar och medicinska komplikationer under graviditet och förlossning. Barnmorskor med arbetsledande uppgifter rapporterade i jämförelse med de barnmorskor som enbart hade patientarbete att de i högre utsträckning regelbundet extraherade data från registret avseende den egna mottagningen (p&lt;0,001; OR=11,79 CI 95 % 7,43-18,69), och de uppvisade en minskad sannolikhet att ifrågasätta nyttan med registret (p&lt;0,001; OR=0,29 CI 95 % 0,16-0,49). Erbjudande om fosterdiagnostik till blivande föräldrar varierade betydligt mellan de 21 landstingen under åren 2011-2013. Sex landsting erbjöd KUB till alla gravida viii kvinnor, nio landsting erbjöd KUB på indikation och fem landsting erbjöd inte KUB till gravida kvinnor. Ett landsting hade inga skrivna riktlinjer. Under samma tidsperiod var andelen kvinnor som genomgick ultraljud i graviditetsvecka 17-20, 97,6 %, KUB 33,0 %, AC 2,6 % och CVS 1,1 %. Moderns ålder uppvisade störst inverkan på genom-gången fosterdiagnostik. Utbildningsnivå universitet i jämförelse med lägre utbildningsnivå var associerad med en ökad sannolikhet att genomgå KUB (OR 2,30, 95 % CI 2,26-2,35), AC (OR 1,54, 95 % CI 1,46-1,63) och CVS (OR 2,68, 95 % CI 2,44-2,93). Barnmorskor inom svensk mödrahälsovård ansåg att arbetsbelastningen var hanterbar även om den var hög. Kliniska riktlinjer, regelbunden fortbildning, och samarbetet med kollegor och läkare i vårdkedjan för den gravida kvinnan beskrevs som stödjande faktorer i arbete. Den administrativa arbetsbelastningen upplevdes som krävande och att informera blivande föräldrar om fosterdiagnostik som utmanande. Slutsats Data i Mödrahälsovårdsregistret uppvisade god till mycket god täckningsgrad, överensstämmelse och intern validitet för de flesta variablerna i registret. Barnmorskor var överlag positiva till Mödrahälsovårdsregistret, även om arbetsuppgiften att föra in uppgifter manuellt i registret upplevdes som betungande. Erbjudande om fosterdiagnostik varierade avsevärt mellan olika landsting. Moderns ålder och utbildningsnivå var de faktorer som uppvisade störst inverkan på genomgången fosterdiagnostik. Barnmorskor uppskattade sitt arbete inom mödrahälsovården, men det administrativa arbetet upplevdes som krävande. Att informera blivande föräldrar om fosterdiagnostik upplevdes som utmanande. Mödrahälsovårdsregistret har en utvecklingspotential vad gäller dess rapportfunktioner och registerdata skulle i högre grad kunna användas i planering och förbättring av innehållet i svensk mödrahälsovård. Erbjudande om fosterdiagnostik till blivande föräldrar borde vara likvärdiga i samtliga landsting i Sverige. Pedagogiska hjälpmedel skulle kunna underlätta för barnmorskor att informera blivande föräldrar med olika kunskapsnivå vad gäller fosterdiagnostik.

O objetivo deste estudo foi relacionar a gravidade da ventriculomegalia cerebral fetal isolada com o desenvolvimento neurológico pós-natal. Um total de 36 fetos com diagnóstico ultra-sonográfico de ventriculomegalia cerebral isolada foram acompanhados e avaliados quanto ao seu desenvolvimento neurológico entre 0 e 26 meses. Foi definido como ventriculomegalia leve a medida do átrio entre 10 a 15 mm e grave, maior que 15 mm Nos casos de ventriculomegalia grave (n = 19) tivemos 6 óbitos e 3 alterações neurológicas graves. No grupo de ventriculomegalia leve (n = 16) observou-se 3 alterações neurológicas leves / The objective of this study was to correlate the severity of the isolated fetal cerebral ventriculomegaly with the postnatal neurological development. Thirty-six fetuses with ultrasonographic cerebral ventriculomelagy diagnostic were attended and neurological development at the 0 to 26 life months. The definition of according to the ventricular atrium measurements: mild 10 to 15 mm and severe over 15 mm ventriculolomegaly. There cases severe ventriculomegaly (n = 19) the postnatal mortality.6 and 3 neurological development severe. The group with mild ventriculomegaly (n = 16) the neurological development evaluation 3 was light alterations