Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling

Objective: This study aimed to assess factors that influence patients’ decisions in accepting prenatal diagnostic testing following genetic counseling for increased risk of fetal aneuploidy. Methods: A retrospective cohort study of women at increased risk of fetal aneuploidy who had genetic counseling from January 2012 to December 2016 at a single academic center. Demographics, indications for genetic counseling and rates of diagnostic testing were collected and compared between those who accepted diagnostic testing and those who chose cell free DNA. The variables were analyzed using chi-square, Fisher exact test, and multiple logistic regression. Result: Of the 2373 pregnant women who underwent genetic counseling for increased risk of fetal aneuploidy during the study period, 321 women had diagnostic testing (13.5%). Women at 35 years and older accepted diagnostic testing more than women younger than 35 years (20.7% versus 11.5%, p < 0.001). Asian women accepted diagnostic testing at 27.7% more than white, non-Hispanic Black and Hispanic women at 18.0%, 12.1% and 11.7% respectively, p = 0.002. Number of indications for genetic counseling influenced the likelihood of accepting diagnostic testing. Women with one indication had 11.5% acceptance of diagnostic testing; and with two and three indications, it was 17.0% and 29.2% respectively. The commonest indication for diagnostic testing was cystic hygroma (RR 7.5, 95% CI 3.12-8.76 p < 0.001). The relative risk of diagnostic testing for fetuses with shortened long bones; femur and humerus, thickened nuchal fold, echogenic bowel, single umbilical artery, increased nuchal translucency were 4.0, 3.3, 3.1, 2.7, and 2.7 respectively. Abnormal serum analyte alone was associated with less acceptance of diagnostic testing (RR 0.8, 95% CI 0.7 – 0.96, p = 0.017). Conclusion: Age, race, ethnicity and cumulative number of indications for genetic counseling influenced acceptance of diagnostic testing in at-risk women of fetal aneuploidy and genetic disorders

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Prenatal Genetic Counseling in Congenital Anomalies

Congenital Anomalies - From the Embryo to the Neonate ◽

10.5772/intechopen.74394 ◽

2018 ◽

Author(s):

Mihaela Amelia Dobrescu ◽

Florin Burada ◽

Mihai Gabriel Cucu ◽

Anca Lelia Riza ◽

Gratiela Chelu ◽

...

Keyword(s):

Genetic Counseling ◽

Congenital Anomalies ◽

Prenatal Genetic Counseling

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Novel Diagnostic Paradigms for Friedreich Ataxia

Journal of Child Neurology ◽

10.1177/0883073812448440 ◽

2012 ◽

Vol 27 (9) ◽

pp. 1146-1151 ◽

Cited By ~ 7

Author(s):

Karlla W. Brigatti ◽

Eric C. Deutsch ◽

David R. Lynch ◽

Jennifer M. Farmer

Keyword(s):

Clinical Trials ◽

Genetic Counseling ◽

Point Mutation ◽

Gene Dosage ◽

Diagnostic Testing ◽

Friedreich Ataxia ◽

Lateral Flow Immunoassay ◽

Gene Deletions ◽

Phenotypic Spectrum ◽

Compound Heterozygotes

Friedreich ataxia is the most common inherited ataxia, with a wide phenotypic spectrum. It is generally caused by GAA expansions on both alleles of FXN, but a small percentage of patients are compound heterozygotes for a pathogenic expansion and a point mutation. Two recent diagnostic innovations are further characterizing individuals with the phenotype but without the classic genotypes. First, lateral-flow immunoassay is able to quantify the frataxin protein, thereby further characterizing these atypical individuals as likely affected or not affected, and providing some correlation to phenotype. It also holds promise as a biomarker for clinical trials in which the investigative agent increases frataxin. Second, gene dosage analysis and the identification of affected individuals with gene deletions introduce a novel genetic mechanism of disease. Both tests are now clinically available and suggest a new diagnostic paradigm for the disorder. Genetic counseling issues and future diagnostic testing approaches are considered as well.

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Genetic Counseling and Congenital Anomalies

Pediatrics in Review ◽

10.1542/pir.2-5-155 ◽

1980 ◽

Vol 2 (5) ◽

pp. 155-158

Author(s):

M. Feingold

Keyword(s):

Genetic Counseling ◽

Congenital Anomalies

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The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned

PLoS ONE ◽

10.1371/journal.pone.0255278 ◽

2021 ◽

Vol 16 (7) ◽

pp. e0255278

Author(s):

Shane C. Quinonez ◽

Bridget C. O’Connor ◽

Michelle F. Jacobs ◽

Atnafu Mekonnen Tekleab ◽

Ayalew Marye ◽

...

Keyword(s):

Genetic Counseling ◽

Congenital Anomalies ◽

Addis Ababa ◽

Curriculum Evaluation ◽

Medical Knowledge ◽

Lessons Learned ◽

Sub Saharan Africa ◽

Assessment Scores ◽

Sub Saharan ◽

The Impact

Background Over the past two decades non-communicable diseases (NCDs) have steadily increased as a cause of worldwide disability and mortality with a concomitant decrease in disease burden from communicable, maternal, neonatal and nutritional conditions. Congenital anomalies, the most common NCD affecting children, have recently become the fifth leading cause of under-five mortality worldwide, ahead of other conditions such as malaria, neonatal sepsis and malnutrition. Genetic counseling has been shown to be an effective method to decrease the impact of congenital anomalies and genetic conditions but is absent in almost all sub-Saharan Africa countries. To address this need for counseling services we designed and implemented the first broad-based genetic counseling curriculum in Ethiopia, launching it at St. Paul’s Millennium Medical College (SPHMMC) in Addis Ababa, Ethiopia. Methods The curriculum, created by Michigan Medicine and SPHMMC specialists, consisted of medical knowledge and genetic counseling content and was delivered to two cohorts of nurses. Curriculum evaluation consisted of satisfaction surveys and pre- and post-assessments covering medical knowledge and genetic counseling content. Following Cohort 1 training, the curriculum was modified to increase the medical knowledge material and decrease Western genetic counseling principles material. Results Both cohorts reported high levels of satisfaction but felt the workshop was too short. No significant improvements in assessment scores were seen for Cohort 1 in terms of total scores and medical knowledge and genetic counseling-specific questions. Following curriculum modification, improvements were seen in Cohort 2 with an increase in total assessment scores from 63% to 73% (p = 0.043), with medical knowledge-specific questions increasing from 57% to 79% (p = 0.01) with no significant change in genetic counseling-specific scores. Multiple logistic, financial, cultural and systems-specific barriers were identified with recommendations for their consideration presented. Conclusion Genetics medical knowledge of Ethiopian nurses increased significantly following curriculum delivery though difficulty was encountered with Western genetic counseling material.

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Genetic Counseling and Congenital Anomalies

Pediatrics in Review ◽

10.1542/pir.2.5.155 ◽

1980 ◽

Vol 2 (5) ◽

pp. 155-158

Author(s):

Murray Feingold

Keyword(s):

Genetic Counseling ◽

Birth Defects ◽

Congenital Anomalies ◽

Chromosomal Abnormalities ◽

Correct Diagnosis ◽

Routine Care ◽

Diagnostic Dilemma ◽

Family Pedigree ◽

The Family

As the role of the pediatrician changes, less time will be devoted to routine care and more time will be spent in other areas such as genetics and birth defects. Approximately 5% of all newborn babies have a significant birth defect requiring the care of a pediatrician. Structural abnormalities such as meningomyelocele, cleft palate, limb abnormalities, and other obvious defects usually do not present any diagnostic problems. However, there may be difficulty in diagnosis of the child who has nonspecific findings such as an unusual facial appearance and/or minor congenital anomalies. In this situation, the pediatnician must first decide whether the child is normal or abnormal; at times this may be difficult. If abnormal, then the correct diagnosis must be ascertained in order to provide the family with genetic counseling, a prognosis, and treatment when available. Complicated medical gadgetry may be helpful in making a diagnosis, but a thorough history and physical examination remain the clinician's key to unlocking a diagnostic dilemma. A family pedigree should be constructed listing any significant illnesses, birth defects, chromosomal abnormalities, consanguinity, and mental retardation. A complete pregnancy history should always be obtained; what took place during the mother's pregnancy also affected the boarding fetus. Queries should be made concerning exposure to drugs, alcohol, infections, environmental contaminants, and radiation.

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Prevalence of Congenital Anomalies in Newborns in Zabol: A Single Hospital Based Study

World Journal of Peri & Neonatology ◽

10.18502/wjpn.v1i1.2780 ◽

2020 ◽

Author(s):

Mojtaba Jahantiq ◽

Mahta Mazaheri ◽

Tayebeh Rabaninia ◽

Atiyeh Javaheri ◽

Nooshin Amjadi

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Genetic Counseling ◽

Urinary Tract ◽

Early Diagnosis ◽

Congenital Anomalies ◽

Cross Sectional Study ◽

Sectional Study ◽

Cross Sectional ◽

Urinary Tract Abnormality

Background: Congenital anomalies are conditions of prenatal origin that are present at birth, potentially impacting an infant's health, development and survival. The birth of a newborn with congenital anomalies imposes financial and emotional burdens on families. The aim of this study was to investigate the epidemiology of congenital anomalies in 2014 in Zabol, Iran. Methods: This cross-sectional study was carried out in the Amir Al-Momenin Hospital between May of 2013 and April 2014. All the live born were included, and we have examined all newborns for the presence of congenital anomalies. Results: During the twelve months, 9,309 newborns were included to the study. Of them, 72 (0.8%) newborns were affected with a congenital malformation. The congenital anomalies affected significantly higher proportion of male newborns (66.7%) than female newborns (33.3%). Among of them, musculoskeletal system abnormalities account for 45.9% of the total abnormalities allocating the highest frequency to itself. Subsequently, central nervous system abnormality (19.4%), gastrointestinal anomaly (15.3%), urinary tract abnormality (9.7%), chromosomal abnormality (2.8%), and multiple anomalies (1.4%) were frequent, respectively. Conclusion: This study showed that prevalence of congenital anomalies is restively high in Zabol city. The results of this study identify the necessity of genetic counseling and early diagnosis to prevention, care and surveillance.

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Gastroesophageal Reflux Disease: A Gastroenterologist's Perspective

Perspectives on Voice and Voice Disorders ◽

10.1044/vvd21.3.89 ◽

2011 ◽

Vol 21 (3) ◽

pp. 89-99

Author(s):

Michael F. Vaezi

Keyword(s):

Gastroesophageal Reflux Disease ◽

Gastroesophageal Reflux ◽

Reflux Disease ◽

Best Practice ◽

Clinical Care ◽

Diagnostic Testing ◽

Diagnostic Tools ◽

Swallowing Function ◽

Atypical Symptoms

Gastroesophageal reflux disease (GERD) is a commonly diagnosed condition often associated with the typical symptoms of heartburn and regurgitation, although it may present with atypical symptoms such as chest pain, hoarseness, chronic cough, and asthma. In most cases, the patient's reduced quality of life drives clinical care and diagnostic testing. Because of its widespread impact on voice and swallowing function as well as its social implications, it is important that speech-language pathologists (SLPs) understand the nature of GERD and its consequences. The purpose of this article is to summarize the nature of GERD and GERD-related complications such as GERD-related peptic stricture, Barrett's esophagus and adenocarcinoma, and laryngeal manifestations of GERD from a gastroenterologist's perspective. It is critical that SLPs who work with a multidisciplinary team understand terminology, diagnostic tools, and treatment to ensure best practice.

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