scholarly journals An assessment of teratology training provided by masters level genetic counseling programs

1995 ◽  
Vol 4 (4) ◽  
pp. 301-313
Author(s):  
◽  
Shari R. Baldinger ◽  
Lola P. Cook ◽  
Beatrice N. French ◽  
Joanne M. Haun ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Counseling Programs ◽  
Genetic Counseling Programs

scholarly journals Genetic counseling for individuals with hemoglobin disorders and for their relatives: a systematic literature review

2014 ◽  
Vol 48 (5) ◽  
pp. 932-937
Author(s):  
Tatiana Dela-Sávia Ferreira ◽  
Elisângela de Paula Silveira-Lacerda ◽  
Marco Tulio Antonio García-Zapata
Keyword(s):  
Genetic Counseling ◽  
Literature Review ◽  
Systematic Literature Review ◽  
Therapeutic Abortion ◽  
Exclusion Criteria ◽  
Counseling Programs ◽  
Genetic Counseling Programs

Objective: To identify genetic counseling programs that do not encourage therapeutic abortion for individuals with hemoglobin disorders and/or for their relatives. Method: Systematic literature review of articles published from 2001 to 2012 that are located in the PubMed, LILACS, SciELO and SCOPUS databases using keywords in Portuguese, English and Spanish and that met the inclusion and exclusion criteria described on a standardized form. Results: A total of 409 articles were located, but only eight (1.9%) were selected for analysis. Conclusion: Although seldom mentioned in the literature, educational/preventive programs targeting hemoglobinopathies are feasible and allow the affected individuals to acquire knowledge on the consequences of this condition and their odds of transmitting it.



scholarly journals The Accreditation Council for Genetic Counseling’s response to COVID‐19 impact on genetic counseling programs

2021 ◽  
Author(s):  
Dawn C. Allain ◽  
Susan Randall Armel ◽  
Erin P. Carmany ◽  
Heather Creswick ◽  
Sarah B. McBrien ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Counseling Programs ◽  
Accreditation Council ◽  
Genetic Counseling Programs

scholarly journals Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

2005 ◽  
Vol 21 (1) ◽  
pp. 292-298 ◽  
Author(s):  
Elisângela Vitória Adorno ◽  
Fábio David Couto ◽  
José Pereira de Moura Neto ◽  
Joelma Figueiredo Menezes ◽  
Marco Rêgo ◽  
...  
Keyword(s):  
Public Health ◽  
Genetic Counseling ◽  
Umbilical Cord Blood ◽  
Statistical Significance ◽  
Public Health Problem ◽  
Northeast Brazil ◽  
High Prevalence ◽  
Hemoglobin Molecule ◽  
Hereditary Disorders ◽  
Genetic Counseling Programs

Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2(4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.

scholarly journals Tcf4 encodescortical differentiation during development

2018 ◽  
Author(s):  
Simone Mesman ◽  
Reinier Bakker ◽  
Marten P. Smidt
Keyword(s):  
Genetic Counseling ◽  
Corpus Callosum ◽  
Human Brain ◽  
Rna Sequencing ◽  
Neurodevelopmental Disorders ◽  
Disease Development ◽  
Cortical Layers ◽  
Critical Function ◽  
Cortical Regions ◽  
Genetic Counseling Programs

AbstractTcf4 has been linked to autism, schizophrenia, and Pitt-Hopkins Syndrome (PTHS) in humans, however, the mechanisms behind its role in disease development is still elusive. In the present study, we provide evidence that Tcf4 has a critical function in the differentiation of cortical regions during development.We show that Tcf4 is present throughout the developing brain at the peak of neurogenesis. Deletion of Tcf4 results in mis-specification of the cortical layers, malformation of the corpus callosum and hypoplasia of the hippocampus. RNA-sequencing on E14.5 cortex material shows that Tcf4 functions as a transcriptional activator and loss of Tcf4 results in downregulation of genes linked to the emergence of other neurodevelopmental disorders. Taken together, we show that neurogenesis and differentiation are severely affected in Tcf4 mutants, phenocopying morphological brain defects detected in PTHS patients. The presented data identifies new leads to understand the mechanism of human brain defects and will assist in genetic counseling programs.

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