Chapter-05 Genetic Disorders and Birth Defects

2008 ◽  
pp. 17-25
Author(s):  
Dilip Dutta
1998 ◽  
Vol 7 (1) ◽  
pp. 15-29 ◽  
Author(s):  
Leslie H. Cohen ◽  
Beth A. Fine ◽  
Eugene Pergament

1999 ◽  
Vol 2 (4) ◽  
pp. 196-201 ◽  
Author(s):  
Victor B. Penchaszadeh ◽  
Arnold L. Christianson ◽  
Roberto Giugliani ◽  
Victor Boulyjenkov ◽  
Michael Katz

2019 ◽  
Vol 43 (1 suppl 1) ◽  
pp. 440-450
Author(s):  
Débora Gusmão Melo ◽  
André Anjos da Silva ◽  
Antonette Souto El Husny ◽  
Victor Evangelista de Faria Ferraz

ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.


1979 ◽  
Vol 11 (S6) ◽  
pp. 177-195
Author(s):  
D. F. Roberts

Among the conflicts of modern life is that faced by many educated women between the desire to pursue a professional career and the demands of their potential maternal role. Some resolve this by deferring having children. This deferment, coupled with an increased awareness of birth defects generally and of the problems faced by older mothers, leads to an increasing number of queries to genetic advisory services, family doctors, obstetricians, and family planning centres, as to the specific risks in reproduction by older parents. The appreciable risk of death in childbed of earlier days is no longer with us, thanks to modern obstetric techniques. But the child morbidity due to congenital and genetic disorders, already appreciable (Roberts, Chavez & Court, 1970; Roberts, 1975) and increasing both proportionately and absolutely, and the evidence that some of these increase in incidence with age, mean that there is a real basis for the enquirers' concern. The following review of the ways in which parental ageing affects the incidence of such disorders, and of the mechanisms that appear to be responsible, places the increased risks in perspective.


2021 ◽  
Vol 9 (6) ◽  
pp. 1208-1217
Author(s):  
Anubha Srivastava ◽  
Anjana Saxena ◽  
Vijay Kumar Srivastava ◽  
Ashutosh Kumar Yadav

Ayurveda is the most ancient medical science and its fundamentals cover every aspect of human life. Acharya Sushruta has classified the diseases into seven types on the basis of its origin; among them first two are explained for birth defects. Genetic disorders (Adibala pravritta) and Congenital anomaly (Janmabala pravritta) are the two main categories of birth defects (Garbhajanya vikriti) encountered during the early infancy. The genetic disorders are either maternal or paternal and largely responsible for carrying genetic defects in progeny, whereas congenital birth defects are mainly due to faulty diet and lifestyle of mother and due to suppression of mental and physical desire of the pregnant lady. Ayurveda enlisted various desires of pregnant woman and their impact on the health and physical status of the progeny. Similarly, there are so many rituals and regimens are described for pregnant lady to prevent birth defects and to make woman ready for normal delivery. In brief, it can be said that if a preg-nant lady wishes for a healthy baby (Supraja), She should follow the Nine-month regimen (GarbhiniParicharya) mentioned for them in Ayurveda, so the chances of congenital anomaly will be minimal. Keywords: Congenital anomaly, Birth defect, Garbhajanya vikriti, Supraja, Garbhini paricharya


2019 ◽  
Vol 17 (3) ◽  
pp. 331-335
Author(s):  
Babu Ram Pokhrel ◽  
Chiranjivi Adhikari

Background: Almost seven percent of disease burden is due to genetic disorders and birth defects and they are associated to genetic as well as environmental factors. Prevention of such problems by making aware and increasing knowledge level with the help of health education during adolescence is cost-effective among others. In this context, current study proposed whether mini-lecture and/or poster is/are effective in changing adolescents’ knowledge regarding genetic disorders and birth defects.Methods: Mini-lectures followed by posters on genetic disorders and birth defects were used for intervention group, whereas for control, only mini-lectures based on health promotion were delivered by trained personnel in nine through 12 grade students of conveniently selected two public schools of Kaski district using quasi-experimental design. Knowledge was assessed using a pretested inventory at baseline, after two weeks of mini-lectures and two more weeks after poster for intervention group, whereas, only at baseline and two weeks after mini-lectures for control. Statistical analysis was carried out to compare the intervention group of 133 students with that of control group of 154. Results: Mean knowledge increments among control and intervention groups were 0.20 and 0.68 points respectively after mini-lecture. An addition of 0.84 points gained after the poster, yielding overall increment of 1.52 in intervention group. Inferential analysis showed that effect of control was not effective (p=0.60), whereas mini-lecture (p=0.032), poster (p=0.008) and both mini-lecture and poster (p<0.001) were effective.Conclusions: The mini-lecture and/or poster for grade nine through 12 are effective methods and media for bringing about changes in knowledge of adolescents regarding genetic disorders and birth defects. Keywords: Genetic disorder and birth defect; health education; intervention; knowledge; nepal.


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