Podcast
Questions and Answers
Which of the following can be determined through amniocentesis in the third trimester?
Which of the following can be determined through amniocentesis in the third trimester?
- Fetal brain activity
- Fetal lung maturity (correct)
- Fetal blood type
- Fetal bone density
What is a major limitation of using ultrasound (USG) for prenatal diagnostics?
What is a major limitation of using ultrasound (USG) for prenatal diagnostics?
- It cannot detect the presence of amniotic fluid.
- It can only be used in the first trimester.
- It may not be able to detect all abnormalities, including some genetic disorders like Down syndrome. (correct)
- It carries a high risk of fetal loss.
Which of the following is a reason a person or couple might seek prenatal genetic counseling?
Which of the following is a reason a person or couple might seek prenatal genetic counseling?
- To determine the sex of the fetus.
- To determine the best method of delivery.
- To assess their risk of having a child with a genetic disorder. (correct)
- To ensure the baby will have blue eyes.
Which of these is an example of retrospective genetic counseling?
Which of these is an example of retrospective genetic counseling?
What is the 'LS' ratio in amniotic fluid analysis associated with?
What is the 'LS' ratio in amniotic fluid analysis associated with?
What is a potential risk associated with amniocentesis?
What is a potential risk associated with amniocentesis?
Which of the following is NOT a type of genetic testing?
Which of the following is NOT a type of genetic testing?
What is the primary objective of quantitative genetic research in the context of genetic counseling?
What is the primary objective of quantitative genetic research in the context of genetic counseling?
Which of the following genetic tests can be used to detect chromosomal abnormalities in the fetus?
Which of the following genetic tests can be used to detect chromosomal abnormalities in the fetus?
What is a karyotype?
What is a karyotype?
What is mosaicism?
What is mosaicism?
What is an isochromosome?
What is an isochromosome?
Which of the following is a risk factor for genetic disorders?
Which of the following is a risk factor for genetic disorders?
What is the purpose of genetic counselling?
What is the purpose of genetic counselling?
Which of the following is NOT a valid reason for genetic testing?
Which of the following is NOT a valid reason for genetic testing?
Which of the following is a factor that can influence the likelihood of a couple having a child with a genetic disorder?
Which of the following is a factor that can influence the likelihood of a couple having a child with a genetic disorder?
What is the main purpose of prenatal genetic testing?
What is the main purpose of prenatal genetic testing?
Genetic testing is widely employed to identify diseases in adults before they manifest symptoms. This type of testing often falls under the category of...
Genetic testing is widely employed to identify diseases in adults before they manifest symptoms. This type of testing often falls under the category of...
What is the primary function of genetic counseling?
What is the primary function of genetic counseling?
Genetic testing focuses on identifying alterations in the following except:
Genetic testing focuses on identifying alterations in the following except:
Which of the following is NOT a commonly employed technique in genetic testing?
Which of the following is NOT a commonly employed technique in genetic testing?
Which of the following scenarios would most likely necessitate genetic testing?
Which of the following scenarios would most likely necessitate genetic testing?
What is the fundamental branch of science that forms the foundation of genetic testing?
What is the fundamental branch of science that forms the foundation of genetic testing?
Flashcards
Consanguineous couple
Consanguineous couple
A couple closely related by blood, increasing genetic risks for disorders.
Isochromosomes
Isochromosomes
Abnormal chromosomes formed when a chromosome divides horizontally instead of vertically.
Mosaicism
Mosaicism
Condition where some cells have abnormal chromosome numbers after nondisjunction post-fertilization.
Genetic counselling
Genetic counselling
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Nondisjunction disorder
Nondisjunction disorder
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Karyotyping
Karyotyping
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Amniocentesis
Amniocentesis
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Preimplantation diagnosis
Preimplantation diagnosis
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Prenatal Genetic Counseling
Prenatal Genetic Counseling
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Genetic Counselor
Genetic Counselor
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Chromosomal Changes
Chromosomal Changes
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Down Syndrome
Down Syndrome
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Lecithin:Sphingomyelin Ratio
Lecithin:Sphingomyelin Ratio
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Fetal Loss Risk
Fetal Loss Risk
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Maternal Rh Sensitization
Maternal Rh Sensitization
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Genetic testing
Genetic testing
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Prenatal diagnosis
Prenatal diagnosis
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Ethical issues in genetic testing
Ethical issues in genetic testing
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Common diagnostic tests
Common diagnostic tests
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Carrier testing
Carrier testing
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Predictive testing
Predictive testing
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Pharmacogenomics
Pharmacogenomics
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Study Notes
Genetic Assessment and Counseling
- Genetic testing analyzes blood or tissue samples for biochemical, chromosomal, or genetic markers to detect genetic diseases.
- Prenatal diagnosis and screening tests for genetic diseases in unborn children.
- Genetic testing for adults can identify disease risks, or diagnose diseases before symptoms appear.
- Determining the best treatment dosage for certain conditions.
Reason for Genetic Testing
- Detecting genetic diseases in unborn children.
- Identifying if people carry genes for diseases and might pass them on to their children.
- Screening embryos for diseases.
- Testing for genetic diseases in adults.
- Diagnosing individuals with existing disease symptoms.
Definition of Genetics and Counseling
- Genetics is the branch of biology concerning genes, genetic variation, and heredity.
- Counseling is a process involving communication between parties, solving problems, providing resources, and making decisions. Genetic counseling helps individuals and families understand genetic disorders.
Definition of Genetic Counseling
- Genetic counseling is a process in which patients or relatives at risk of a genetic disorder learn about consequences, transmission, and prevention of the disorder.
- It's a communication process.
- Genetic counselors assist individuals and families affected by or at risk of genetic disorders.
Purpose of Genetic Counseling
- Pedigree analysis: Family trees illustrate trait inheritance across generations to understand risks of genetic disorders.
- Ethnicity assessment: Understanding ethnic background reveals genetic disease risks (e.g., sickle cell disease).
- Consanguinity: Close relatives are at higher risk for genetic conditions.
- Prenatal exposure: Exposure to harmful substances during pregnancy can increase risks for genetic disorders.
Steps in Genetic Counseling
- History taking: Detailed medical history, family history, and pregnancy history to assess genetic risk factors.
- Pedigree analysis: Family history is constructed to identify genetic traits across generations.
- Estimation of risk: Evaluating recurrence rates of genetic conditions by analyzing pedigrees and test results is critical.
- Communication: Effectively sharing risk information with patients.
Types of Genetic Testing
- Quantitative genetic research connects genetic factors to behavioral disorders.
- Prenatal tests: Level II ultrasound, maternal serum AFP, chorionic villus sampling (CVS), and amniocentesis detect fetal abnormalities.
Maternal Blood Sampling for Fetal Cells
- Using fetal cells in maternal blood for genetic analysis.
- Fluorescence in-situ hybridization (FISH) identifies specific chromosomes for genetic disorders.
Maternal Serum Alpha Fetoprotein (MSAFP)
- Detects neural tube defects (NTDs) in the fetus.
- Elevated levels suggest NTDs like anencephaly and spina bifida.
- Decreased levels may be indicative of Down syndrome.
Maternal Serum HCG and Estriol
- Detects molar pregnancies (trophoblastic disease).
- Elevated HCG levels accompany molar pregnancies and need monitoring to ensure treatment effectiveness.
- Normal levels of estriol show normal fetal development and placental function. Decreased levels might indicate issues with fetal or placental development or Down syndrome.
Other Important Genetic Components and Counseling
- Karyotyping: Detects chromosomal abnormalities (e.g., Down syndrome)
- Genetic counselor's code of ethics: Principles of beneficence, non-maleficence, autonomy, and justice.
- Ethical legal considerations in counseling: Disclosure, informed consent, and support decisions.
- The risk of stigma about genetic conditions.
- Parental counseling on choices about genetic tests and possible pregnancy termination.
- Types of inherited conditions like dominant and recessive patterns.
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