Empowering Patients Through Education
- Medical Specialities
- Genetics
- Empowering Patients Through Education
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Empowering Patients Through Education
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A few of the genetic conditions which can be better managed through patient education:
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Cystic fibrosis
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Chromosomal abnormalities
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Metabolic disorders
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Renal tubular disorders
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Celiac disease
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Who should avail preconceptional counselling:
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A) Couples with a history of a previously affected child/ family member/ partner with any of the following:
Congenital malformation
Intellectual disability
Recurrent fetal losses
Cancer
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B) Consanguineous unions
Consanguinity leads to an increased incidence of genetic disorders as compared to the baseline risk. Risk assessment (judged from a detailed family history) and options for carrier screening shall be discussed to guide reproductive decisions.
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C) All couples before planning a pregnancy
Did you know that certain disorders like thalassemia, spinal muscular atrophy, and fragile X are common in the Indian population? Screening for these disorders can prevent the birth of affected children as most of these conditions do not have a cure or if a cure is available it is complex. Screening for certain infectious diseases before pregnancy can avoid fetal malformations. Congenital malformations like neural tube defects can also be avoided by pre-pregnancy care.
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Pre-marital counselling
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A family history of an affected individual leads to concerns in the prospective bride or groom. This session is aimed at clarifying the type of disorder in the family, understanding whether it has a genetic basis, and reviewing the risk of the individual (prospective match) in concern. It aims at establishing the status of the individual, understanding whether there are reproductive risks, discussing the available options of management when necessary and alleviating familial anxiety.
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Do I need a geneticist?
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Since the field of genetics is still a developing specialty in medical science, you might be unsure as to whether you need to consult a geneticist. A few scenarios where a genetic opinion is helpful and should be sought are cited below.
Family history: of an affected individual (even single) with any of the conditions listed above
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Previous affected offspring: if you have/had a child with any of the disorders listed above
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Recurrent sudden deaths: adult or neonatal
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Recurrent pregnancy losses
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Infertility
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Family history of cancer
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