scholarly journals Evaluation and Risk Assessment of Congenital Anomalies in Neonates

Children ◽  
2021 ◽  
Vol 8 (10) ◽  
pp. 862
Author(s):  
Rita P. Verma
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Infant Mortality ◽  
Congenital Anomalies ◽  
Clinical Presentation ◽  
Gene Modification ◽  
Social And Emotional ◽  
Lack Of Information ◽  
The Family ◽  
The Usa

Congenital anomalies (CA) are a large heterogeneous group of disorders of abnormal morphogenesis or biochemistry which present at birth and carry widely variable implications for morbidity and mortality. They are the leading cause of infant mortality in the USA, with an incidence of 3–4% of all births. CA are the fourth leading cause of neonatal mortality worldwide, with an estimated 295,000 deaths annually. The enormous variability in the clinical presentation in terms of severity, time of occurrence, course, complications, management, and outcomes makes the evaluation of CA complicated, highly specific, and individualized. The anomalies can impart tremendous physical, social, and emotional distress on the patient with massive emotional, social, financial, and medical implications for the family and society. The diagnosis may remain elusive despite rigorous, elaborate, and extensive investigations in many cases. While the enormous strides in genetic testing and gene modification therapy have an encouraging impact on the diagnosis and treatment, the risk assessment of recurrence in the family and population of CA remains obscure in most cases due to the lack of information and referable evidence.

scholarly journals Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Functional Characterization ◽  
The Family ◽  
Novel Variant ◽  
History Of ◽  
Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

scholarly journals Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yu-Liang Jiang ◽  
Xiao-Dong Xu ◽  
Bai-Rong Li ◽  
En-Da Yu ◽  
Zi-Ye Zhao ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Novel Mutation ◽  
Delayed Diagnosis ◽  
Personal History ◽  
Pathological Examination ◽  
The Novel ◽  
Novel Mutations ◽  
The Family ◽  
Genetic Level ◽  
Peutz Jeghers Syndrome

Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC). Conclusion Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.

scholarly journals Utilization of preimplantation genetic testing in the USA

2021 ◽  
Author(s):  
Kaitlyn Roche ◽  
Catherine Racowsky ◽  
Joyce Harper
Keyword(s):  
Genetic Testing ◽  
Older Women ◽  
State Level ◽  
Oocyte Retrieval ◽  
Preimplantation Genetic Testing ◽  
Annual Increase ◽  
Younger Women ◽  
Live Birth Rates ◽  
Significant Difference ◽  
The Usa

Abstract Purpose To evaluate the use of preimplantation genetic testing (PGT) and live birth rates (LBR) in the USA from 2014 to 2017 and to understand how PGT is being used at a clinic and state level. Methods This study accessed SART data for 2014 to 2017 to determine LBR and the CDC for years 2016 and 2017 to identify PGT usage. Primary cycles included only the first embryo transfer within 1 year of an oocyte retrieval; subsequent cycles included transfers occurring after the first transfer or beyond 1 year of oocyte retrieval. Results In the SART data, the number of primary PGT cycles showed a significant monotonic annual increase from 18,805 in 2014 to 54,442 in 2017 (P = 0.042) and subsequent PGT cycles in these years increased from 2946 to 14,361 (P = 0.01). There was a significant difference in primary PGT cycle use by age, where younger women had a greater percentage of PGT treatment cycles than older women. In both PGT and non-PGT cycles, the LBR per oocyte retrieval decreased significantly from 2014 to 2017 (P<0001) and younger women had a significantly higher LBR per oocyte retrieval compared to older women (P < 0.001). The CDC data revealed that in 2016, just 53 (11.4%) clinics used PGT for more than 50% of their cycles, which increased to 99 (21.4%) clinics in 2017 (P< 0.001). Conclusions A growing number of US clinics are offering PGT to their patients. These findings support re-evaluation of the application for PGT.

A brief assessment of concerns associated with genetic testing for cancer: The multidimensional impact of cancer risk assessment (MICRA) questionnaire.

2002 ◽  
Vol 21 (6) ◽  
pp. 564-572 ◽  
Author(s):  
David Cella ◽  
Chanita Hughes ◽  
Amy Peterman ◽  
Chih-Hung Chang ◽  
Beth N. Peshkin ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Cancer Risk ◽  
Cancer Risk Assessment ◽  
Brief Assessment

Cancer specialists in the VA as early adopters of clinical genetic services.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 11029-11029
Author(s):  
Maren Theresa Scheuner ◽  
Paloma Sales ◽  
Mary Whooley ◽  
Katherine Hoggatt ◽  
Michael Kelley
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Genetic Test ◽  
Primary Care Providers ◽  
Precision Oncology ◽  
Genetic Tests ◽  
The Past ◽  
Cancer Specialists ◽  
Genetics Referral ◽  
Test Ordering

11029 Background: Genetic testing has become essential to delivery of cancer treatment, risk assessment, surveillance, and prevention. We sought to understand the use of genetic tests by clinicians in the Department of Veterans Affairs (VA). Methods: We administered a web-based survey to clinicians at 20 VA facilities with precision oncology programs. We excluded respondents if they were: not at one of the 20 VA facilities; not seeing patients in VA; not a physician, nurse practitioner (NP), physician assistant (PA), or pharmacist; a medical geneticist or specialty was not reported; or if the survey was incomplete. Using multiple logistic regression, we assessed the association between genetic test ordering, genetics referral, and clinician characteristics. Results: There were 909 (909/11,442, 8%) eligible respondents with 61% women and 64% under age 55. There were 571 physicians (63%), 200 NPs (22%), 93 pharmacists (10%), and 45 PAs 5(%). There were 361 (40%) primary care providers (PCPs), 90 (10%) cancer specialists, and 458 (50%) non-cancer specialists. Only 21% of clinicians reported feeling prepared to use genetic tests in their practice. In the past year, only 8% had ordered at least one multi-gene cancer test (germline, tumor or both), 12% a pharmacogenetic test, and 0.2%, an exome. Compared to physicians, NPs were 60% less likely (OR = 0.42, 0.23-0.77, p = 0.005), pharmacists, 80% less likely (OR = 0.22, 0.08-0.62, p = 0.005), and PAs, 90% less likely (OR = 0.08, 0.01-0.58, p = 0.01) to have ordered a genetic test. Compared to PCPs, cancer specialists were almost 5 times more likely to order a genetic test (OR = 4.74, 2.57-8.73, p < 0.0001); there was no difference in genetic test ordering between PCPs and non-cancer specialists. Among clinicians (n = 72) who had ordered cancer genetic tests, only about two-thirds were confident in knowing the indications for testing; discussing the potential benefits, harms and limitations of testing; understanding the test report; and knowing implications of results on disease management and prevention. Clinicians (n = 106) who had ordered pharmacogenetic tests had lower frequencies of confidence in these tasks. About half (52%) of the cancer specialists had referred patients to genetics in the past year; they were 1.8 times more likely than PCPs to refer (OR = 1.82, 1.10-3.03, p = 0.02), and non-cancer specialists were about 50% less likely than PCPs to refer (OR = 0.46, 0.33-0.64, p < 0.0001). Conclusions: In the VA, cancer specialists are integrating genetic testing and genetics referral into their practice more than PCPs and other specialists. However, genetic testing is underutilized, and many clinicians remain unprepared to use genetic tests in their practice. These results will inform workforce planning, clinician education, and development of clinical decision support to facilitate genetic risk assessment, informed consent, and ordering of genetic tests.

scholarly journals From foundling homes to day care: a historical review of childcare in Chile

2014 ◽  
Vol 30 (3) ◽  
pp. 461-472 ◽  
Author(s):  
A Rodrigo ◽  
René van der Veer ◽  
Harriet J. Vermeer ◽  
Marinus H. van IJzendoorn
Keyword(s):  
Infant Mortality ◽  
20Th Century ◽  
Historical Review ◽  
Developed Countries ◽  
Policy And Practice ◽  
Social And Emotional ◽  
Reduce Infant Mortality ◽  
Psychosocial Condition ◽  
The Creation ◽  
Childcare Policy

This article discusses significant changes in childcare policy and practice in Chile. We distinguish four specific periods of childcare history: child abandonment and the creation of foundling homes in the 19th century; efforts to reduce infant mortality and the creation of the health care system in the first half of the 20th century; an increasing focus on inequality and poverty and the consequences for child development in the second half of the 20th century; and, finally, the current focus on children’s social and emotional development. It is concluded that, although Chile has achieved infant mortality and malnutrition rates comparable to those of developed countries, the country bears the mark of a history of inequality and is still unable to fully guarantee the health of children from the poorest sectors of society. Recent initiatives seek to improve this situation and put a strong emphasis on the psychosocial condition of children and their families.

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