Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18.

Trisomy 18 syndrome, also known as Edwards syndrome, is the second most common autosomal chromosome syndrome after Down syndrome. Trisomy 18 is a serious medical disorder due to the increased occurrence of structural defects, the high neonatal and infant mortality, and the disabilities observed in older children. Interventions, including cardiac surgery, remain controversial, and the traditional approach is to pursue pure comfort care.

The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect.

Objectives: Recommendations for surgical repair of a congenital heart defect in children with trisomy 13 or trisomy 18 remain controversial, are subject to biases, and are largely unsupported with limited empirical data. This has created significant distrust and uncertainty among parents and could potentially lead to suboptimal care for patients. A working group, representing several clinical specialties involved with the care of these children, developed recommendations to assist in the decision-making process for congenital heart defect care in this population.

Causes of death in individuals with trisomy 18 after the first year of life.

Mortality in individuals with trisomy 18 has significantly decreased over the past 20 years, but there is scant literature addressing the prognosis and cause of death in individuals with trisomy 18 and survival past the first year of life (YOL). This study analyzed factors associated with mortality and cause of death in a retrospective cohort of 174 individuals with trisomy 18 and survival past the first YOL, the largest such series to date. Data were collected via retrospective survey of parents of affected individuals.

The common trisomy syndromes, their cardiac implications, and ethical considerations in care.

Purpose Of Review: To review the incidence of congenital heart disease in the trisomies, highlight the history of cardiac surgery in trisomy 21 comparing it to the increase in cardiac surgery in trisomies 13 and 18, discuss ethical issues specific to trisomies 13 and 18, and suggest a pathway of shared decision-making in the management of congenital heart disease in trisomy 13 and 18, specifically congenital heart surgery.

Recent Findings: Congenital heart disease is prevalent in the trisomies and the management of these defects, especially surgical intervention, has changed. In the late 20th century, survival after cardiac surgery in trisomy 21 vastly improved, significantly decreasing morbidity and mortality secondary to pulmonary hypertension.

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network.

The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life.

Prenatal patient perceptions of receiving difficult news over the telephone.

Difficult news has been described as any news that adversely and seriously affects an individual's view of their future. Research in oncology genetic counseling demonstrated that individuals do not prefer in-person or telephone delivery of their genetic test results. However, in the prenatal setting, there is limited research examining how patients prefer news related to their pregnancies be disclosed.

Seizures in trisomy 18: Prevalence, description, and treatment.

Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management.

Evolution in the clinic: Maladaptive units and "minor anomalies".

It is here argued that the application of the term "minor anomalies" is often imprecise and likely outdated. In the past, the designation was used indiscriminately to refer to a great variety of unrelated morphogenetic phenomena. Also, the term does not discriminate between mild qualitative defects of development (mild malformations) and quantitative variants of normal structure.

Teaching perspectives on the communication of difficult news of genetic conditions to medical students.

Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination. Medical school curricula currently include training in breaking unexpected news; however, it is difficult to teach and assess.

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

Purpose: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. We delineate a novel neurocognitive disorder caused by variants in the ZMYND8 gene.

Methods: An international collaboration, exome sequencing, molecular modeling, yeast two-hybrid assays, analysis of available transcriptomic data and a knockdown Drosophila model were used to characterize the ZMYND8 variants.

Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Background: Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) often elude conventional genome sequencing variant calling pipelines and will explain a portion of these unsolved cases.

Management of Children with the Trisomy 18 and Trisomy 13 Syndromes: Is there a Shift in the Paradigm of Care?

Objective: The conventional view toward the management of infants with the trisomy 18 and trisomy 13 syndromes has been to recommend pure comfort care and the avoidance of technological interventions. This commentary aims to address the recently raised question about whether there has been a shift in the paradigm of the management of infants with the two conditions.

Study Design: The study design includes narrative review of the literature.

The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.

Since Hirschhorn's description in 1961, the history and chronology of the clinical, cytogenetic, and molecular characterization of Wolf-Hirschhorn syndrome (WHS) elegantly demonstrates the remarkable advances in genetic technology over the last six decades that have paralleled the delineation of the phenotype. After mention in the Human Chromosome Newsletter of a child with a visible deletion of the top of a B chromosome group, 4-5, Hirschhorn and colleagues companioned their report with that of Wolf et al. in Humangenetik in 1965, and the condition was recognized and named.

Reflections on observing faces in art.

The experience of art provides the visitor of a museum or gallery with the opportunity to contemplate and share the human condition both from the physical and psychological point of view. Because of the accessibility and the number of museums throughout Europe, classical European art as both sculpture and painting, affords the viewer the opportunity to experience life from one part of the world over centuries of history. These museums occasionally exhibit pieces showing a person with a human disorder and physical differences.

Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.

The increasing demand for advanced genomic services has finally come to the attention of healthcare systems and stakeholders who are now eager to find creative solutions to increase the pool of genomic literate providers. Training in genetics and dysmorphology has historically been conducted as a self-driven practice in pattern recognition, ideally within a formal or informal apprenticeship supervised by a master diagnostician. In recent times, case-based learning, framed by flipped classroom pedagogy have become the preferred teaching methods for complex medical topics such as genetics and genomics.