Advancing maternal age and trisomy screening: the practice challenges of facilitating choice and gaining consent.

Antenatal screening for chromosomal anomalies such as Trisomy 13, 18 and 21 (Patau's, Edward's and Down's syndrome respectively) is offered to all pregnant women in the first two trimesters.This article explores the varying considerations of consent for this type of screening, particularly in relation to women of advancing age who are at increased risk of carrying a pregnancy affected by a trisomy. The practical challenges or barriers of gaining valid, meaningful informed consent are discussed.

Complex congenital heart defect, heterotaxy, imperforate anus, and other congenital anomalies in a 27-week infant: a case study.

According to multiple researchers and studies, congenital heart disease (CHD) occurs in approximately 4.8-12.0 of 1,000 live births in the general population, and 2.4 per 1,000 cases are serious enough to require surgery or cardiac catheterization in the first year of life.1 Historically, it has been assumed that the earlier the gestational age with CHD, the poorer the outcome; however, with continued improvements in neonatal care, this hypothesis should be looked at more closely. This case illustrates the challenges associated with prematurity, complex cardiac defects, intraventricular hemorrhage (IVH), and other congenital anomalies that increase the risk of infection and/or surgical intervention. It will discuss the hospital course of a twin, born at 27 weeks gestation, who was found to have all of these diagnoses, yet, despite the complexity of his case, he had a predominantly uncomplicated hospital course.

[Anorectal anomaly and maternal care]. / Anomalia anorretal e cuidados maternos.

This purpose of the article was to make a bibliographic review about anorectal malformations and maternal cares. The matter was addressed through an integrative review undertaken in consultation of articles published in the databases indexed in the Virtual Health Library. We identified 25 publications that met the inclusion and exclusion criteria pre-established. In the studies reviewed, there were different study designs, demonstrating that some children born with anorectal anomalies requiring urgent surgery. Health professionals, along with the parents, need to develop partnerships that would enable a long-term monitoring and careful guidance. It is necessary to do more research on the subject, with methodological proposals that reflect the essence of the best care of an ostomized child.

Truth telling and severe fetal diagnosis: a virtue ethics perspective.

PURPOSE: Increased use of prenatal technologies has increased the numbers of women and partners whose fetus is diagnosed with a severe impairment. Virtue ethics provides a useful perspective to consider truth telling in this context, specifically how couples and providers interpret the diagnosis and prognosis to create truth. Virtue ethics is person-centered rather than act-centered, with moral actions guided by how a virtuous person would act in the same circumstance. Phronesis (practical wisdom) guides these actions. SUBJECTS AND METHODS: Fifteen women and 10 male partners with a severe fetal diagnosis participated in this longitudinal ethnography examining their experiences across 3 available care options: termination, routine obstetric care, and perinatal end-of-life care. Data from 39 interviews were analyzed to determine how they created meaning and truth in context of the diagnosis. RESULTS AND CONCLUSIONS: Providers' interactions were usually, but not always, characterized by the practice of phronesis. Couples were in a more complex moral situation than were providers. Those who terminated created a socially acceptable truth within a negative social environment related to abortion. Those seeking routine care had uncertain fetal prognoses and struggled with the meanings of "odds" of survival. One couple with end-of-life care experienced a close alignment of the facts and the truth they made public.

Anomalia anorretal e cuidados maternos / Anorectal anomaly and maternal care / Anormalidades anorectales y la atención materna

O objetivo deste artigo foi realizar um estudo de revisão bibliográfica sobre anomalia anorretal e cuidados maternos. O assunto foi abordado por meio de revisão integrativa realizada em consulta de artigos publicados nas bases de dados indexados na Biblioteca Virtual em Saúde. Foram identificadas 25 publicações que atenderam aos critérios de inclusão e exclusão pré-estabelecidos. Nos estudos analisados observaram-se distintos desenhos metodológicos demonstrando que algumas crianças nascidas com anomalia anorretal necessitam de cirurgia de urgência. Os profissionais de saúde, juntamente aos pais, precisam desenvolver parcerias que possibilitem um acompanhamento a longo prazo e orientações cuidadosas. Faz-se necessário que novas pesquisas sejam realizadas sobre o tema, com propostas metodológicas que retratem melhor a essência do cuidado com as crianças estomizadas.

This purpose of the article was to make a bibliographic review about anorectal malformations and maternal cares. The matter was addressed through an integrative review undertaken in consultation of articles published in the databases indexed in the Virtual Health Library. We identified 25 publications that met the inclusion and exclusion criteria pre-established. In the studies reviewed, there were different study designs, demonstrating that some children born with anorectal anomalies requiring urgent surgery. Health professionals, along with the parents, need to develop partnerships that would enable a long-term monitoring and careful guidance. It is necessary to do more research on the subject, with methodological proposals that reflect the essence of the best care of an ostomized child.

El objetivo de este artículo fue realizar un estudio de revisión bibliográfica sobre anomalía ano retal y cuidados maternos. El asunto fue abordado por medio de una revisión integral realizada por consulta de artículos publicados en las bases de datos indexados en la Biblioteca Virtual en Salud. Fueron identificadas 25 publicaciones que atendieron a los criterios de inclusión y exclusión pre-establecidos. En los estudios analizados se observaron distintos dibujos metodológicos demostrando que algunos niños nacidos con anomalía ano retal necesitan de cirugía de urgencia. Los profesionales de salud, juntamente con los padres, necesitan desarrollar grupos que posibiliten un acompañamiento a largo plazo y orientaciones cuidadosas. Se hace necesario que nuevos estudios sean realizados sobre el tema, con propuestas metodológicas que retraten mejor la esencia del cuidado con los niños con ostomía.

Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome.

Smith-Magenis syndrome (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, speech delay, decreased pain sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury. Caregivers must readily adapt to the ever-changing needs of the child. Due to these demands, caregivers may encounter difficulties maintaining their own level of well-being. Thus, a total of 112 primary caregivers (i.e., parents) of individuals diagnosed with SMS responded to online questionnaires to assess demographic and psychosocial factors, such as perceptions of child health vulnerability, benefit finding, sleep behaviors, anxiety and depression symptomatology, and caregiver satisfaction and self-efficacy, which may be related to caregiver well-being. Results show that, among mothers, caregiver well-being was directly related to perceived child health vulnerability, caregiver satisfaction, and benefit finding, and a significant moderating effect was observed for depression/anxiety counseling after beginning the caregiver role on the relationship between anxiety symptomatology and caregiver well-being. Results further suggest that maternal caregivers who report high levels of anxiety but do not seek counseling fair the worst in terms of well-being. Among fathers, lower depression symptoms and greater benefit finding were related to higher levels of caregiver well-being. These data show that many factors play roles in influencing coping and well-being among SMS caregivers. Investigating these variables and relationships may reveal additional resources and interventions to assist primary caregivers.

Hemophagocytic lymphohistiocytosis in the premature neonate.

Hemophagocytic lymphohistiocytosis (HLH), a rare disease, results in pathological findings secondary to an abnormal proliferation of activated lymphocytes and histiocytes (tissue macrophages) and is lethal unless identified and adequately treated. Clinical features of HLH include fever, hepatosplenomegaly, cytopenias, hypertriglyceridemia, hypofibrinogenemia, elevated blood levels of ferritin, lymphadenopathy, skin rash, jaundice, and edema. Often, the symptoms of HLH are misinterpreted as infection, resulting in inadequate treatment and death. Several case studies of premature neonates with HLH have recently been published. Therapeutic guidelines for HLH exist and, when identified, HLH in the premature infant can be successfully treated resulting in resolution of symptoms.

"Understanding Adam" multiple reciprocal translocations: complex case presentation.

This article presents a case review of a newborn diagnosed with a complex chromosomal rearrangement, as demonstrated through a painted chromosomal analysis. This infant presented with multiple dysmorphology including cutis aplasia, multiple ocular malformations, bilateral cleft lip and palate, and postnatal hydrocephaly. A chromosomal analysis revealed multiple-ways, balanced translocation involving chromosomes 3, 4, 6, 8, and 9. This case study provides a unique opportunity to, in retrospect, trace each malformation exploring the pathophysiology, etiology, and correlating origin with chromosomal variation. Careful review of this case, enhanced by the visually augmented representation of each translocation, will increase understanding of chromosomal anomalies and their implications in embryological development and clinical presentation.

["Conservative" treatment in the multiply handicapped child]. / Traitements "conservatoires" chez l'enfant polyhandicapé.

The increasingly medicalized strategies of nursing for the multihandicapped children point out the problem of limits and constraints of these processing. First, a review of methods of treatments for the evolutionary complications is done. Secondly, the consequences of the choice of these therapeutics are discussed. The ethical consequences of the various processing are analysed by developing the motivations of the caring teams, the concepts of quality of life and its dualism with dignity of life.

Parasitic conjoined twins: a case report.

Parasitic twins are a rare phenomenon and a challenge for caregivers. Occurring as a result of abnormal processes in the first several weeks of embryologic development, this condition is oftentimes diagnosed by prenatal ultrasound. This unusual condition may go undiagnosed until the time of delivery, however, despite the availability and use of advanced ultrasound techniques. The challenges presented by this condition are multiple and complex. The following case report demonstrates some of these challenges.

Camptomelic dysplasia: a case study.

Camptomelic dysplasia (CMD) is a congenital short-limb skeletal dysplasia characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract. Perinatal and early neonatal death from respiratory failure is common. Diagnosis and long-term management of the infant with CMD require a coordinated effort among many specialists. This article presents a general overview of skeletal dysplasias and camptomelic dysplasia. It concludes with a case study illustrating the many problems infants with CMD may have and the complex treatment and follow-up services they require.