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Best Practice & Research. Clinical Obstetrics & Gynaecology

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https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#1
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
February 28, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28284509/chromosomal-mosaicism-in-the-fetoplacental-unit
#2
REVIEW
Francesca Romana Grati, Francesca Malvestiti, Lara Branca, Cristina Agrati, Federico Maggi, Giuseppe Simoni
Cytogenetic prenatal diagnosis on chorionic villi (CV) can be complicated by the detection of "chromosomal mosaicism." This is one of the main issues of first-trimester cytogenetic prenatal diagnosis as it can involve different types of chromosomal abnormalities, and the prediction of the fetal involvement is challenging because the detected abnormal mosaic cell line is not necessarily extended to fetal tissues. In addition, because the cell-free fetal DNA that is targeted by the new technologies for fetal aneuploidy risk assessment is mainly derived from the CV cells, the same challenges related to chromosomal mosaicism can be transferred into this new clinical field...
February 17, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28302443/growing-complexity-of-expanded-carrier-screening-direct-to-consumer-physician-mediated-and-clinic-based-offers
#3
REVIEW
Davit Chokoshvili, Danya F Vears, Pascal Borry
Since the introduction of out-of-hospital health-related genetic tests more than a decade ago, the landscape of genetic testing services has grown in complexity. Although initially most genetic tests for health purposes were offered as direct-to-consumer services, that is, without the mediation of a medical professional, currently many commercial providers require that their tests be ordered by a licensed physician. At the same time, some commercially developed health-related genetic tests are gaining support from the professional medical community and are finding their way into clinical practice...
February 16, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28262552/preface-volume-41
#4
EDITORIAL
Neville F Hacker
No abstract text is available yet for this article.
February 14, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28268059/ethical-issues-in-fetal-therapy
#5
REVIEW
Amirhossein Moaddab, Ahmed A Nassr, Michael A Belfort, Alireza A Shamshirsaz
The introduction of routine fetal ultrasound and the technical improvements in ultrasound equipment have greatly increased our ability to diagnose fetal anomalies. As a consequence, congenital anomalies are diagnosed today earlier and in a greater number of patients than ever before. The development of fetal intervention and fetal surgery techniques, improved anesthesia methodology, and sophisticated perinatal care at the limits of viability, have now made prenatal management of some birth defects or fetal malformations a reality...
February 12, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28318971/maternal-decision-making-during-pregnancy-parental-obligations-and-cultural-differences
#6
REVIEW
Janet Malek
Decision-making during pregnancy can be ethically complex. This paper offers a framework for maternal decision-making and clinical counseling that can be used to approach such decisions in a systematic way. Three fundamental questions are addressed: (1) Who should make decisions? (2) How should decisions be made? and (3) What is the role of the clinician? The proposed framework emphasizes the decisional authority of the pregnant woman. It draws ethical support from the concept of a good parent and the requirements of parental obligations...
February 10, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28262553/global-health-ethics-the-case-of-maternal-and-neonatal-survival
#7
REVIEW
Frank W J Anderson, Timothy R B Johnson, Raymond de Vries
Through their Sustainable Development Goals the United Nations recognizes the moral significance of health, stating that the elimination of maternal and early neonatal mortality are health outcomes that should be available to all women in the world. Complete prevention requires addition of a skill set for maternal care teams that is a magnitude greater than what we have today. As universities, individuals, institutions and NGO's engage in initiatives to end preventable maternal and neonatal mortality, an expanded context of ethical imperatives becomes increasingly important...
February 10, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28283303/best-practice-issue-on-abnormal-uterine-bleeding
#8
EDITORIAL
Ian S Fraser, Malcolm G Munro, Hilary O D Critchley
No abstract text is available yet for this article.
January 29, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28268060/irresponsible-and-responsible-resource-management-in-obstetrics
#9
REVIEW
Birgit Arabin
Low budgets constrain and high budgets stimulate choices. In high-income countries, this economic reality may lead to overuse of healthcare services and pose unnecessary risks for mothers and infants. Options for improvement can be created at different levels of healthcare systems. Pregnancy provides an effective opportunity to profile maternal risks and represents a vulnerable but potentially modifiable period from prenatal life to adulthood. In response to system-inherent false incentives, professional responsibility requires obstetricians to strive to improve the future health of families and their offspring despite disincentives for doing so...
January 25, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28202331/genetics-of-gynaecological-cancers
#10
REVIEW
Panayiotis Constantinou, Marc Tischkowitz
Gynaecological cancers accounted for 16.3% of all cancers and 13.9% of all cancer deaths in women globally in 2012. Cancer of the cervix is the most common gynaecological cancer, followed by cancers of the uterus and the ovary. Although cervical cancer is almost exclusively triggered by human papilloma virus infection, approximately 5% of all uterine cancers and 20% of all ovarian cancers are caused by germline mutations in cancer predisposition genes. A number of genetic syndromes are associated with rarer gynaecological tumours...
January 24, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28259715/ethical-issues-in-genetic-counseling
#11
REVIEW
Nandor Gabor Than, Zoltan Papp
Genetics has made great progress in the past decades, and prenatal diagnosis, predictive genetic testing, and genetic counseling have drawn the limelight of public attention. Because the subject of genetic counseling is of crucial consequence for both the short and long term, its ethical aspects are paramount. The question is whether mankind is mature enough to use this extraordinary knowledge in the right way for the benefit of the society. In the center of ethical questions is the comprehensiveness of information provided to the couples or patients and counseling them about results and making informed educated decisions...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28215395/microarrays-in-prenatal-diagnosis
#12
REVIEW
Beatrice Oneda, Anita Rauch
In prenatal diagnosis, chromosomal microarray (CMA) has not yet fully replaced conventional karyotyping but has rapidly become the recommended test in pregnancies with ultrasound abnormalities. In this review, we provide an overview of the published data concerning this technology and the controversies concerning its use in the prenatal setting. There is abundant evidence indicating the added detection of pathogenic abnormalities with CMA in comparison to the traditional karyotyping, especially in fetuses with multiple or isolated ultrasound abnormalities such as congenital heart disease, increased nuchal translucency, or oral cleft...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28202330/ethical-issues-in-cesarean-delivery
#13
REVIEW
Frank A Chervenak, Laurence B McCullough
Cesarean delivery is the most common and important surgical intervention in obstetric practice. Ethics provides essential guidance to obstetricians for offering, recommending, recommending against, and performing cesarean delivery. This chapter provides an ethical framework based on the professional responsibility model of obstetric ethics. This framework is then used to address two especially ethically challenging clinical topics in cesarean delivery: patient-choice cesarean delivery and trial of labor after cesarean delivery...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28190696/ethical-issues-in-research
#14
REVIEW
Raul Artal, Sheldon Rubenfeld
Biomedical research is currently guided by ethical standards that have evolved over many centuries. Historical and political events, social and legal considerations, and continuous medical and technological advances have led to the prevailing research ethics and practice. Currently, patients and research subjects have complete autonomy while under medical care or when volunteering as research subjects. Enrolling volunteers in human subjects research includes a detailed and meaningful informed consent process that follows the cardinal principles of ethics: autonomy, beneficence, nonmaleficence, and justice...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28190695/ethical-dimensions-of-the-fetus-as-a-patient
#15
REVIEW
Frank A Chervenak, Laurence B McCullough
In this chapter, we present an account of the ethical concept of the fetus as a patient to guide clinical judgment and decision-making in the obstetrician-patient relationship. We explicate this concept and explore its clinical implications on the basis of the professional responsibility model of obstetric ethics. We will emphasize a preventive ethics approach, which is based on the recognition of the potential for ethical conflict in patient care and adopts ethically justified strategies to prevent those conflicts from occurring...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28238590/the-current-status-of-hormonal-therapies-for-heavy-menstrual-bleeding
#16
REVIEW
Oskari Heikinheimo, Ian Fraser
Hormonal treatment of abnormal uterine bleeding (AUB), especially bleeding related to endometrial causes (AUB-E), ovulatory dysfunction (AUB-O) and coagulopathy (AUB-C), and to some extent, uterine leiomyomas and adenomyosis, has become the first-line evidence-based management strategy during recent years. Hormonal treatment of heavy menstrual bleeding (HMB) is also endorsed as the first line of treatment in several international guidelines. In the present article, we review the efficacy of the commonly used and widely available hormonal treatments of AUB-O, AUB-E and AUB-C...
January 21, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28209376/-ethics-surrounding-the-provision-of-abortion-care
#17
REVIEW
Anibal Faúndes, Laura Miranda
The provision of abortion care represents a great ethical challenge to physicians, particularly in countries where the law states that abortion is a crime. The concept that it is a crime carries a stigma that is worse than that associated with other acts qualified by law as crimes. This stigma leads to at least two different kinds of unethical behavior. One is the refusal to provide safe abortion services to women who comply with the legal requirements, alleging conscientious objection, and the other is to discriminate against women with complications of induced abortion...
January 20, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28254144/hereditary-ovarian-cancer-and-risk-reduction
#18
REVIEW
Lesley Andrews, David G Mutch
Mutations in BRCA1 and BRCA2 account for hereditary breast and ovarian cancer syndrome in a majority of families and 14% of epithelial ovarian cancer cases. Despite next-generation sequencing, other identified genes (Lynch Syndrome, RAD51C, RAD51D, and BRIP1) account for only a small proportion of cases. The risk of ovarian cancer by age 70 is approximately 40% for BRCA1 and 18% for BRCA2. Most of these cancers are high-grade serous cancers that predominantly arise in the fimbriae of the fallopian tube. Ovarian screening does not improve outcomes, so women at high risk are recommended to undergo risk-reducing salpingo-oophorectomy around the age of 40, followed by hormone replacement therapy (HRT)...
January 17, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28341055/obstetric-care-for-women-with-thalassemia
#19
REVIEW
Terence T Lao
Thalassemia is the commonest monogenic disease and manifests as severe anemia. It is increasingly encountered outside the Mediterranean region, Africa, Middle East, and Southeast Asia because of immigration. Pregnancy, previously uncommon in patients with homozygous β-thalassemia, is encountered increasingly because of improved management and assisted reproduction technology; however, preconceptional problems that include anemia, iron overload, cardiac dysfunction, thromboembolism, alloimmunization, infections, and endocrine and bone disorders, could influence maternal and obstetric outcome...
February 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28328415/thalassaemia-in-obstetric-practice-multiple-choice-questions-for-vol-39
#20
(no author information available yet)
No abstract text is available yet for this article.
February 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
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