Prenat Diagnosis Fetal Medicine Genetics

REVIEWS:
In Medicine, Health Care and Philosophy: http://www.springerlink.com/content/44275q410286r7q1/

ABSTRACT
Medical or health-oriented screening programs are amongst the most debated aspects of health care and public health practices in health care and public health ethics, as well as health policy discussions. In spite of this, most treatments of screening in the research literature restrict themselves to isolated scientific aspects, sometimes complemented by economic analyses or loose speculations regarding policy aspects. At the same time, recent advances in medical genetics and technology, as well as a rapidly growing societal focus on public health concerns, inspires an increase in suggested or recently started screening programs.


This book involves an in-depth analysis of the ethical, political and philosophical issues related to health-oriented screening programs. It explores the considerations that arise when heath care interacts with other societal institutions on a large scale, as is the case with screening: What values may be promoted or compromised by screening programs? What conflicts of values do typically arise – both internally and in relation to the goals of health care, on the one hand, and the goals of public health and the general society, on the other? What aspects of screening are relevant for determining whether it should be undertaken or not and how it should be organised in order to remain defensible? What implications does the ethics of screening have for health care ethics as a whole?

These questions are addressed by applying philosophical methods of conceptual analysis, as well as models and theories from moral and political philosophy, medical ethics, and public health ethics, to a large number of ongoing and proposed screening programs which makes this book the first comprehensive work on the ethics of screening. Analyses and suggestions are made that are of potential interest to health care staff, medical researchers, policy makers and the general public.

CONTENTS
Acknowledgements

Chapter 1: Introduction

1.1 The Wilson and Jungner Criteria
1.2 Point and Plan
1.3 The Concept of Screening

Chapter 2: Why Screening?

2.1 Screening, Treatment and Prevention: Preliminary Remarks
2.2 Health: Life and Well-being
2.2.1 Health and Counselling
2.2.2 The Good of People and of the Population
2.3 Autonomy
2.3.1 Respecting and Promoting Autonomy
2.3.2 Promoting Autonomy through Screening
2.4 Justice
2.5 Summary

Chapter 3: Screening – What, When and Whom?

3.1 Diseases and Groups
3.1.1 Prenatal Screening
3.1.2 Neonatal Screening
3.1.2.1 Reasons for Screening in the Neonatal Period
3.1.2.2 Neonatal Screening and Parental Informed Consent
3.1.2.3 Expanding Neonatal Screening – How Far?
3.1.3 Child and Adolescent Screening
3.1.3.1 Stigmatisation
3.1.3.2 The Child as Decision Maker
3.1.4 Adult Screening

3.2 Testing and Analysis
3.2.1 Safety
3.2.2 Validity
3.2.3 Predictive Value

3.3 Treatments
3.3.1 Abortion as Treatment
3.3.2 Counselling as Treatment

3.4 Summary

Chapter 4: Screening – How?

4.1 Informed Consent
4.2 Counselling
4.2.1 Genetic Counselling as a Template
4.2.2 Expansion: Shared Decision Making

4.3 Funding and Participation
4.4 Summary

Chapter 5: Case Studies

5.1 Non-Invasive Prenatal Diagnosis
5.2 Neonatal Screening for Fragile X
5.3 Mammography Screening
5.4 PSA Screening for Prostate Cancer


Chapter 6: Serving Society or Serving the Patient?

6.1 Summary of the Analysis So far
6.2 The Public Health – Health Care Tension Area
6.3 The Relevance of a Social Science Perspective
6.4 An Institutional Approach to health-related Ethics: A Sketch
6.5 Applying the Institutional Approach: Three Cases
6.5.1 Institutions, Functions and Ethics: Reproductive Care vs. Communicable Disease
6.5.2 Direct to Consumer Genetic Testing: The Limits of Context Relativity
6.5.3 Screening and Justice: The Case Against Allocating Health Care Resources to Screening


6.6 Revisiting the Wilson and Jungner Criteria for Screening
6.7 Closing

Refrences
Index

Objective: Increasing maternal weight has been shown to predict adverse perinatal outcome, including increases in the relative risk of fetal death, stillbirth, neonatal death, perinatal death and infant death. In order to better understand the pathophysiological factors associated with obesity during pregnancy, the role of biomarkers associated with adverse outcomes in obese pregnant women is under investigation. The purpose of this review study was to examine potential biomarkers that could serve as effective screening strategies in obese pregnant women to reduce fetal and neonatal morbidity, as well as maternal morbidity.

Methods: Electronic databases (Pubmed, Embase) were searched for previously published research studies that investigated biomarkers associated with perinatal outcomes in obese pregnant women and the putative mechanisms underlying biomarker effects on pregnancy outcomes.

Results: It is evident that while several biomarkers predict perinatal complications in obese pregnant women, none fulfilled the criteria to be considered clinically useful.

Conclusion: There is a critical need for reliable blood-based biomarkers associated with an increased risk of adverse perinatal outcomes in obese pregnant women.

Keywords: Pregnant women, pregnancy outcome, body mass index, infant

Background:Lack of early ultrasound examination and proper antenatal care in rural areas explain why most ectopic pregnancies are presented to our center only after they become disturbed. However, this is almost always restricted to the first trimester.
Case:A middle aged woman presented with acute abdomen and hemodynamic instability was
admitted at our emergency department. History revealed an unexpected definite period of amenorrhea of 18 weeks and 2 days duration and pregnancy test was found positive. Ultrasound examination showed hemoperitoneum and a right large adnexal swelling with a viable fetus inside and as
such immediate exploration was decided. Laparotomy revealed profound intra-abdominal and pelvic blood collection and an advanced right tubal pregnancy with intact gestational sac. Right salpingectomy was done and the patient had a smooth postoperative course until being discharged.
Conclusion:According to this case, tubal pregnancy should always be considered even in the second trimester if the clinical presentation is relevant, and ultrasound examination is mandatory to
identify pregnancy location

It is the intention of each human organism to seek relationship within its environment. Through this dynamic interaction, the organism changes and grows, “assimilating from the environment what it needs for its very growth” (Perls F et al., 1990, p. viii). How the organism incorporates what is vital to its developing is through the creativity of adjusting or the spontaneous interacting of one with another to create something different and new. Any adjusting is creative insofar as it leads to integration: the unification of two unlike essences that are now made into a more inclusive whole. This is the experience of contacting — the quality of connecting with oneself and within the environment.

This chapter presents a somatic and developmental approach to Gestalt psychotherapy theory and practice. Five necessary contexts are given for the assimilating the novel in infant development. The psychotherapy session is then examined from the perspective of these five contexts. Two case vignettes are presented exemplifying theory into practice.

Seit vergangenem August ist der "Praena Test" in Deutschland auf dem Markt: Ein Blut-Gentest, mit dem sich mit hoher Wahrscheinlichkeit diagnostizieren lässt, ob bei einem Fetus die Chromosomen-Anomalie Trisomie 21 vorliegt. Kritiker wie Befürworter des Tests sprachen bereits im vergangenen Jahr von einer "neuen Ära der Pränatalmedizin". Nun zeichnet sich ab, dass mit Hilfe des gleichen Testverfahrens zunehmend auch andere Chromosomen-Abweichungen sowie Krankheiten erkennen lassen. Viele der bisherigen Vereinbarungen und gesetzlichen Regelungen zum Thema vorgeburtliche Untersuchung und Gendiagnostik stehen damit zur Disposition. Ende April hat der Deutsche Ethikrat seine lange angekündigte "Die Zukunft der genetischen Diagnostik" vorgestellt. Mit dem "Faktencheck Praena-Test", der im Mai und Juni 2013 als mehrteilige Online-Serie auf den Seiten von faz.net, Freitag.de, Telepolis und Debattenprofis veröffentlicht wurde, haben wir die Stellungnahmen des Ethikrats unter die Lupe genommen und sind den Vorschlägen nachgegangen, die in Hinblick auf den weiteren Umgang mit nicht-invasiven vorgeburtlichen Genscreenings im Raum stehen. Die einzelnen Folgen des Faktenchecks sowie die Ergebnisse der Leserbefragungen sind zugänglich über die Webseite. Dieser Bericht fasst die einzelnen Teilveröffentlichungen zusammen.

Since August 2012 the "Praena Test" is available in Germany. With the help of the "Praena-Test" (non-invasive prenatal diagnosis, NIPD), maternal blood is being screened for chromosomal abnormalities, especially Trisomy 21. Critics as well as advocates of the test are speaking about "a new era of prenatal medicine". In the near future, it will be possible to detect other aberrations as Trisomy 21 and also certain maladies with the new forms of NIPD. In turn, established regulations and agreements concerning prenatal care and genetic diagnostics might have to be revised. In April 2013 the German Ethikrat has published his report: "The Future of Genetic Diagnostics". The online-series "Factchecking Praena-Test", published on faz.net, freitag.de, telepolis.de and debattenprofis.de, has offered a critical analysis of the Ethikrat-report and a discussion of the Ethikrat's proposals concerning new regulations for NIPD. Comments from readers that have contributed to the discussion and answered survey questions are available via website. This paper resumes the results of the discussion.

Objectives: Recent advances in Spatial Temporal Image Correlation (STIC) 4 D fetal echocardiography include the application of eSTIC based on electronic probe image acquisition. We aimed to directly compare the performance of conventional STIC versus eSTIC technique (B-Mode and color Doppler imaging) during off-line reconstruction of STIC/eSTIC fetal heart volume pairs.
Methods: Pairs of B-Mode and Color Doppler STIC volumes were acquired sequentially by firstly conventional (STIC) followed by electronic (eSTIC) probes during 33 consecutive obstetric scans at median 23 (range 13–31) gestational weeks. The resulting 66 fetal heart volume pairs were assessed blindly off-line by a fetal cardiologist who documented feasibility of reconstruction, presence of motion artifacts, subjective image quality on a 4-level scale: 1-best to 4-non-diagnostic and morphological diagnosis, to enable a paired comparison of STIC and eSTIC in the same fetus under similar scanning conditions.
Results: eSTIC volumes had higher temporal resolution (37 vs. 24 frames per second, p < .001), less motion during acquisition (12 vs. 20 cases, O.R. 7.0, p = .002) and better average image quality (1.9 vs. 2.2, p = .006) compared to STIC volumes. More diagnostic reconstructions were achieved by eSTIC (n = 55, 86%) than STIC (n = 52, 78.8%), p = .001), in a comparable analysis time (mean 4.96 vs. 4.94 min). During a comparison of image quality of the original acquisition (A) and reconstructed planes (B and C planes) e STIC was superior in 22 (33%), 39 (59%) and 21 (38%) volumes, respectively, with the remaining cases being of similar quality (<10% in each plane in favor of STIC). Imaging mode and gestational age had a similar impact on both eSTIC and STIC performance: diagnostically acceptable studies in 49 (75.8%) vs. 48 (72.2%) by B-Mode, 60 (90.9%) vs. 56 (84.8%) by Color Doppler Mode, 8 (62.5%) vs. 10 (50%) in early scans, 38 (95%) vs. 38 (95%) in mid-gestation scans, and 7 (70%) vs. 6 (60%) in third trimester scans. Eight obstetric scans identified a fetus with a cardiac variant or structural abnormality. Diagnostic concordance of the two STIC approaches was comparable (40/48 concordant interpretations, kappa 0.657) all confirmed by fetal and/or postnatal echocardiography.
Conclusions: eSTIC was associated with more effective 4 D fetal heart reconstruction due to reduced motion artifacts and superior image quality in all planes, when compared to STIC. Early gestation reconstructions were not generally successful using either technology. Further study is needed to define the cost-effectiveness and diagnostic impact of eSTIC over conventional STIC and their role over, or in addition to, screening 2 D fetal echocardiography by appropriately trained sonographers.

Abortion for life-limiting foetal anomaly is often an intensely painful choice for the parents; though widely offered and supported, it is surprisingly difficult to defend in ethical terms. Abortion on this ground is sometimes defended as foetal euthanasia but has features which sharply differentiate it from standard non-voluntary euthanasia, not least the fact that any suffering otherwise anticipated for the child may be neither severe nor prolonged. Such abortions may be said to reduce suffering for the family including siblings – a consideration rarely stated so explicitly in defences of postnatal euthanasia – or for the woman who must in any case face the eventual loss of her baby, and for whom the abortion is seen as therapeutic in minimising pain. Finally, the abortion may be said to constitute the cessation of morally optional life support on the part of the woman, and/or to be a ‘social’ choice she is entitled to make, whether or not this in fact promotes her interests or those of her child.  These defences need honest exploration:  the intense parental suffering caused by the choice to end an often  much-wanted pregnancy should not preclude but rather encourage the question whether this choice can indeed be ethically proposed to couples, especially compared with the neonatal palliative care (‘perinatal hospice’) approach so well received by parents who experience it.

A diagnosis of fetal abnormality presents parents with a difficult – even tragic – moral dilemma. Where this diagnosis is made in the context of surrogate motherhood there is an added difficulty, namely that it is not obvious who should be involved in making decisions about abortion, for the person who would normally have the right to decide – the pregnant woman – does not intend to raise the child. This raises the question: To what extent, if at all, should the intended parents be involved in decision-making? In commercial surrogacy it is thought that as part of the contractual agreement the intended parents acquire the right to make this decision. By contrast, in altruistic surrogacy the pregnant woman retains the right to make these decisions, but the intended parents are free to decide not to adopt the child. We argue that both these strategies are morally unsound, and that the problems encountered serve to highlight more fundamental defects within the commercial and altruistic models, as well as in the legal and institutional frameworks that support them. We argue in favour of the professional model, which acknowledges the rights and responsibilities of both parties and provides a legal and institutional framework that supports good decision-making. In particular, the professional model acknowledges the surrogate’s right to decide whether to undergo an abortion, and the intended parents’ obligation to accept legal custody of the child. While not solving all the problems that arise in surrogacy, the model provides a framework that supports good decision-making.

Background: Although a number of studies have found that maternal stress affects the fetus, it is unclear
whether jerky fetal movements observed on ultrasound scans are indicative of fetal stress, or whether they
are part of normal development.
Aims: The present study was designed to examine the relationship between jerky fetal arm movements in
relation to fetal age and stress.
Methods: Video recordings were made of routine ultrasound scans of 57 fetuses (age range 8 to 33 weeks)
classified into three age groups: 1st trimester (8–12 weeks, N=9), 2nd trimester (13–24 weeks, N=38), and
3rd trimester (26–33 weeks, N=10). Following previous research on stress behaviour in neonates, a fetal
index of stress was derived from frequency of hiccup, back arch and rhythmical mouthing.
Results: Results indicated that while stress level was unrelated to fetal age, jerkiness of arm movements was
significantly associated with the fetal stress index but not age.
Conclusions: Our findings suggest that jerky arm movements in fetuses are suggestive of fetal stress.

El diagnostico pre-implantacional es una de las posibles modalidades de diagnósticos pre-natal, con la particularidad de tener por objeto embriones extrauterinos. Por lo tanto, solo puede ser utilizado en el ámbito de un proceso de fertilización in vitro. No obstante su virtualidad de permitir evitar una posterior interrupción del embarazo acarrea muchos problemas de índole ético y jurídico: el peligro de poder ser utilizado para la selección de sexo del niño, agravando por lo tanto eventuales discriminaciones de género ya existentes; la posibilidad de su instrumentalización en la determinación de las características de los embriones, permitiendo escoger a los que tengan el color de ojos o de pelo preferido, o hasta cierto nivel de inteligencia, llevando, en ultimo termino, a la eugenesia privada de los padres; e inclusive determinar para la prole características objetivamente nocivas (la sordera, por ejemplo), con el único interés de acomodar los hijos a particularidades de los padres. Una de las más problemáticas utilizaciones del diagnostico pre-implantacional consiste en la selección del embrión adecuado para salvar la vida de otra persona, en regla, un hijo ya existente (niño-medicamento). En el presente artículo intentaremos deslindar las varias vertientes de esta práctica médica, con el propósito de poder hacer un juicio jurídicamente fundamentado de su aceptación o rechazo jurídico.