Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists

We conducted a survey‐based study of the opinions, attitudes, and management practices of neonatologists across the United States regarding prenatally diagnosed Trisomy 18. The survey was designed based on previously validated surveys of severe fetal anomalies and collected demographic information on participants, as well as their attitudes, and management choices given a series of vignettes beginning in the prenatal period. The survey was sent to 3,143 American Academy of Pediatrics Section on Neonatal‐Perinatal Medicine members of which 409 (13%) completed the survey. While the response rate was rather low, our respondent pool was representative of the national neonatologist population. Respondents were predominately white (81%), married (88%), Christian (54%), had children (86%), and were pro‐choice in terms of abortion (68%). Eighty‐three percent (83%) of respondents thought that trisomy 18 is a lethal condition and 60% thought that treatment is futile. Seventy‐five percent (75%) expected that the best neurodevelopmental outcome in the case of infant survival would be profound intellectual disability. Regarding neonatal care, 95% stated that they would recommend palliative care only. Ninety‐five percent (95%) would never recommend or recommend only if asked full code resuscitation for a neonate with full trisomy 18, yet, 44% would comply partially or in full with a full code request for resuscitation measures. The demographic features that correlated most sign...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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CONCLUSION: Realistic and compassionate support of parents living with children with trisomy 13 and 18 is possible. Adversarial interactions that lead to distrust and conflicts can be avoided. Many supportive behaviors that inspire trust can be emulated. PMID: 31280664 [PubMed - as supplied by publisher]
Source: Palliative Medicine - Category: Palliative Care Authors: Tags: Palliat Med Source Type: research
Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown origin. Chromosomal microarray analysis and FISH revealed a 14.9-Mb duplication of 18p and detected 3 centromeres of chro...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
Conclusion: Patients with LEP had significant differences and disparities in end-of-life decision-making. Interventions to facilitate informed decision-making for those with LEP is a crucial component of care for this group. THU 1:30 pm:  “But She’ll Die if You Don’t!”: Understanding and Communicating Risks at the End of Life (Janet Malek) Clinicians sometimes decline to offer interventions even if their refusal will result in an earlier death for their patients. For example, a nephrologist may decide against initiating hemodialysis despite a patient’s rising creatinine levels if dea...
Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Health Care syndicated Source Type: blogs
Publication date: Available online 30 September 2016 Source:Egyptian Journal of Anaesthesia Author(s): Masanori Tsukamoto, Takashi Hitosugi, Kanako Esaki, Takeshi Yokoyama Special needs patients with mental retardation are recognized to have poorer oral health condition. Oral health related quality of life reflects daily activity and well-being. Dental treatment under general anesthesia is often an option for such patients. Trisomy 18 is characterized by congenital heart disease, craniofacial abnormality and mental retardation. Congenital heart disease can be greater risk during anesthesia. In the case of trisomy 18 with ...
Source: Egyptian Journal of Anaesthesia - Category: Anesthesiology Source Type: research
The trisomy 13 and trisomy 18 syndromes are important and relatively common chromosome conditions each consisting of a recognizable pattern of multiple congenital anomalies, an increased neonatal and infant mortality, and a marked cognitive and motor disability in older children. Because of the medically serious nature of the outcomes, the traditional approach to management in the newborn and early infancy periods has been to withhold technological support and surgery. In the last decade a rich dialogue has emerged in the literature; one view makes the case for pure comfort care for the benefit of the child while the other...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Introduction Source Type: research
In conclusion, knowledge of the Edwards’ syndrome tumor profile will enable better clinical surveillance in at‐risk organs (i.e., liver, kidney). This knowledge also provides clues to understanding oncogenesis, including the probably reduced frequency of some neoplasms in infants and children with this genetic condition. © 2016 Wiley Periodicals, Inc.
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research Article Source Type: research
The medical management of infants with the trisomy 13 and trisomy 18 syndromes is challenging and controversial. Both conditions have high neonatal and infant mortality, and surviving children display significant cognitive and motor disabilities. Currently, there exists a tension in the neonatal and perinatal communities regarding care. One view holds that management should consist solely of comfort care, while another opinion recommends offering medical and surgical intervention in appropriate situations. The purpose of this manuscript is to present a model for the care of fetuses and infants with trisomy 13 and 18 during...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Commentary Source Type: research
Sara Billany, 34, from Scarborough, was shocked when she gave birth to her son Kyle, who suffered the genetic condition Edwards' syndrome, having been told she was expecting a healthy baby girl.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
ConclusionThe unexpected declining trend in trisomy 13 in older mothers could not be explained by the risk factors examined in this study. There have been no other reports of trends in the prevalence of trisomy 13 in older mothers in recent years. There is further need for surveillance of trends in future and in other populations. Birth Defects Research (Part A), 2014. © 2015 Wiley Periodicals, Inc.
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - Category: Perinatology & Neonatology Authors: Tags: Original Research Article Source Type: research
ConclusionA full characterization of small supernumerary marker chromosomes in fetal karyotype is necessary for pregnancy prognosis and genetic counseling. Birth Defects Research (Part A), 2015. © 2015 Wiley Periodicals, Inc.
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - Category: Perinatology & Neonatology Authors: Tags: Original Research Article Source Type: research
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