Podcast
Questions and Answers
Which type of genetic testing examines the chromosomes?
Which type of genetic testing examines the chromosomes?
What is the primary goal of prenatal testing?
What is the primary goal of prenatal testing?
Which testing method is NOT definitively diagnostic for genetic conditions?
Which testing method is NOT definitively diagnostic for genetic conditions?
Which best describes presymptomatic testing?
Which best describes presymptomatic testing?
Signup and view all the answers
Which of these tests should be performed first in carrier testing?
Which of these tests should be performed first in carrier testing?
Signup and view all the answers
What is a significant advantage of non-disclosure preimplantation genetic diagnosis?
What is a significant advantage of non-disclosure preimplantation genetic diagnosis?
Signup and view all the answers
Which type of testing evaluates the protein products of genes?
Which type of testing evaluates the protein products of genes?
Signup and view all the answers
For which of the following is predictive testing NOT typically used?
For which of the following is predictive testing NOT typically used?
Signup and view all the answers
Which test is performed at 15-18 weeks of gestation and provides a definitive diagnosis?
Which test is performed at 15-18 weeks of gestation and provides a definitive diagnosis?
Signup and view all the answers
What is a characteristic feature of autosomal recessive disorders?
What is a characteristic feature of autosomal recessive disorders?
Signup and view all the answers
What is the expected outcome for 85% of patients with stage 1-2, node-negative, ER+ breast cancer treated with tamoxifen?
What is the expected outcome for 85% of patients with stage 1-2, node-negative, ER+ breast cancer treated with tamoxifen?
Signup and view all the answers
Which of the following is a risk associated with chronic villi sampling?
Which of the following is a risk associated with chronic villi sampling?
Signup and view all the answers
What percentage of individuals with Familial Adenomatous Polyposis (FAP) develop polyps by age 35?
What percentage of individuals with Familial Adenomatous Polyposis (FAP) develop polyps by age 35?
Signup and view all the answers
What is the purpose of carrier screening in genetic testing?
What is the purpose of carrier screening in genetic testing?
Signup and view all the answers
Which of the following best describes a key characteristic of Hereditary Non-polyposis Colorectal Carcinoma (HNPCC)?
Which of the following best describes a key characteristic of Hereditary Non-polyposis Colorectal Carcinoma (HNPCC)?
Signup and view all the answers
What factor increases the necessity for more invasive prenatal genetic testing?
What factor increases the necessity for more invasive prenatal genetic testing?
Signup and view all the answers
In patients at high risk for colorectal cancer due to FAP, when should genetic testing ideally begin?
In patients at high risk for colorectal cancer due to FAP, when should genetic testing ideally begin?
Signup and view all the answers
Which of the following conditions is NOT an example of an autosomal recessive disorder?
Which of the following conditions is NOT an example of an autosomal recessive disorder?
Signup and view all the answers
What is the role of APOE-e4 in the context of Late Onset Alzheimer's Disease?
What is the role of APOE-e4 in the context of Late Onset Alzheimer's Disease?
Signup and view all the answers
In predictive testing, which statement is true regarding the BRCA1/2 mutation?
In predictive testing, which statement is true regarding the BRCA1/2 mutation?
Signup and view all the answers
What is a common recommendation prior to genetic testing for Huntington's Disease?
What is a common recommendation prior to genetic testing for Huntington's Disease?
Signup and view all the answers
What is the primary benefit of noninvasive prenatal genetic diagnosis?
What is the primary benefit of noninvasive prenatal genetic diagnosis?
Signup and view all the answers
What screening is mandatory in every U.S. state?
What screening is mandatory in every U.S. state?
Signup and view all the answers
Which genetic mutation is primarily associated with Hereditary Non-polyposis colorectal carcinoma (HNPCC)?
Which genetic mutation is primarily associated with Hereditary Non-polyposis colorectal carcinoma (HNPCC)?
Signup and view all the answers
Which management strategy is linked to the identification of women at increased risk for HBOC?
Which management strategy is linked to the identification of women at increased risk for HBOC?
Signup and view all the answers
What is the purpose of the Oncotype Dx test?
What is the purpose of the Oncotype Dx test?
Signup and view all the answers
By which age does the risk for developing early onset Alzheimer’s Disease increase significantly in children of affected parents?
By which age does the risk for developing early onset Alzheimer’s Disease increase significantly in children of affected parents?
Signup and view all the answers
When should individuals at high risk for colorectal cancer begin annual screenings?
When should individuals at high risk for colorectal cancer begin annual screenings?
Signup and view all the answers
What distinguishes disruption from deformation in tissue developmental abnormalities?
What distinguishes disruption from deformation in tissue developmental abnormalities?
Signup and view all the answers
During which prenatal developmental stage is abnormal cell differentiation most likely to cause structural anomalies?
During which prenatal developmental stage is abnormal cell differentiation most likely to cause structural anomalies?
Signup and view all the answers
What are the potential causes of dysplasia as described in developmental abnormalities?
What are the potential causes of dysplasia as described in developmental abnormalities?
Signup and view all the answers
Which of the following statements best defines malformation in prenatal development?
Which of the following statements best defines malformation in prenatal development?
Signup and view all the answers
What is one of the most common reasons to consider a genetic diagnosis in a newborn, particularly relating to muscle tone?
What is one of the most common reasons to consider a genetic diagnosis in a newborn, particularly relating to muscle tone?
Signup and view all the answers
What is the primary difference between prenatal screening and diagnostic testing?
What is the primary difference between prenatal screening and diagnostic testing?
Signup and view all the answers
In predictive testing, what does predispositional testing, such as for BRCA1 and BRCA2, indicate?
In predictive testing, what does predispositional testing, such as for BRCA1 and BRCA2, indicate?
Signup and view all the answers
Which genetic testing approach examines the inheritance of gene markers linked to genetic conditions?
Which genetic testing approach examines the inheritance of gene markers linked to genetic conditions?
Signup and view all the answers
What advantage does non-disclosure genetic testing provide for individuals with late-onset disorders?
What advantage does non-disclosure genetic testing provide for individuals with late-onset disorders?
Signup and view all the answers
What is a primary goal of prenatal testing concerning the management of newborns?
What is a primary goal of prenatal testing concerning the management of newborns?
Signup and view all the answers
What is the primary focus of biochemical testing in the context of genetic conditions?
What is the primary focus of biochemical testing in the context of genetic conditions?
Signup and view all the answers
What is the main purpose of carrier testing in genetic diagnostics?
What is the main purpose of carrier testing in genetic diagnostics?
Signup and view all the answers
Which type of genetic testing directly analyzes DNA and RNA?
Which type of genetic testing directly analyzes DNA and RNA?
Signup and view all the answers
What is the primary risk associated with amniocentesis?
What is the primary risk associated with amniocentesis?
Signup and view all the answers
What is the purpose of the Maternal Serum Screening?
What is the purpose of the Maternal Serum Screening?
Signup and view all the answers
Which of the following is a characteristic of autosomal recessive disorders?
Which of the following is a characteristic of autosomal recessive disorders?
Signup and view all the answers
What aspect of noninvasive prenatal genetic diagnosis can be considered a risk?
What aspect of noninvasive prenatal genetic diagnosis can be considered a risk?
Signup and view all the answers
What is the significance of testing for BRCA1/2 mutations in families?
What is the significance of testing for BRCA1/2 mutations in families?
Signup and view all the answers
What role does a pedigree play in genetic assessments?
What role does a pedigree play in genetic assessments?
Signup and view all the answers
Which testing method is characterized by the need to first test affected family members?
Which testing method is characterized by the need to first test affected family members?
Signup and view all the answers
Which of the following describes a benefit of chronic villi sampling?
Which of the following describes a benefit of chronic villi sampling?
Signup and view all the answers
What factor increases the likelihood of a major malformation if one minor malformation is observed?
What factor increases the likelihood of a major malformation if one minor malformation is observed?
Signup and view all the answers
What is a characteristic feature of predictive testing for Huntington Disease?
What is a characteristic feature of predictive testing for Huntington Disease?
Signup and view all the answers
What is the significance of conducting an extensive literature review during the diagnostic process for rare diseases?
What is the significance of conducting an extensive literature review during the diagnostic process for rare diseases?
Signup and view all the answers
Which prenatal factor is linked with an increased risk of birth defects?
Which prenatal factor is linked with an increased risk of birth defects?
Signup and view all the answers
Why is newborn screening mandatory in every state in the USA?
Why is newborn screening mandatory in every state in the USA?
Signup and view all the answers
Which of the following is a function of postnatal history assessment?
Which of the following is a function of postnatal history assessment?
Signup and view all the answers
How are major congenital anomalies defined in the context of genetic assessments?
How are major congenital anomalies defined in the context of genetic assessments?
Signup and view all the answers
What is a potential consequence of gathering inadequate family history in genetic evaluations?
What is a potential consequence of gathering inadequate family history in genetic evaluations?
Signup and view all the answers
What aspect of a genetic physical assessment aids in identifying subtle physical clues?
What aspect of a genetic physical assessment aids in identifying subtle physical clues?
Signup and view all the answers
Which condition is characterized by a lethal prognosis, typically resulting in death before age 1?
Which condition is characterized by a lethal prognosis, typically resulting in death before age 1?
Signup and view all the answers
What defines the craniosynostosis condition where the skull grows in a parallel direction due to early closure of sutures?
What defines the craniosynostosis condition where the skull grows in a parallel direction due to early closure of sutures?
Signup and view all the answers
Which feature is NOT commonly associated with Turner Syndrome?
Which feature is NOT commonly associated with Turner Syndrome?
Signup and view all the answers
Which symptom is directly associated with untreated Phenylketonuria (PKU)?
Which symptom is directly associated with untreated Phenylketonuria (PKU)?
Signup and view all the answers
Which of the following conditions typically presents with significant intellectual difficulties and a unique high-pitched cry?
Which of the following conditions typically presents with significant intellectual difficulties and a unique high-pitched cry?
Signup and view all the answers
Which of the following is a result of congenital Zika infection?
Which of the following is a result of congenital Zika infection?
Signup and view all the answers
Which characteristic is indicative of Crouzon Syndrome?
Which characteristic is indicative of Crouzon Syndrome?
Signup and view all the answers
What condition involves a low hairline at the back of the neck as a clinical feature?
What condition involves a low hairline at the back of the neck as a clinical feature?
Signup and view all the answers
Which characteristic is NOT associated with Apert Syndrome?
Which characteristic is NOT associated with Apert Syndrome?
Signup and view all the answers
Which feature is commonly associated with Albinism?
Which feature is commonly associated with Albinism?
Signup and view all the answers
What is the primary abnormality found in Treacher Collins Syndrome?
What is the primary abnormality found in Treacher Collins Syndrome?
Signup and view all the answers
Which characteristic is indicative of Huntington Disease?
Which characteristic is indicative of Huntington Disease?
Signup and view all the answers
Which condition is characterized by symptoms such as a prominent forehead and short limbs?
Which condition is characterized by symptoms such as a prominent forehead and short limbs?
Signup and view all the answers
In Wardenburg Syndrome, which feature is NOT typically present?
In Wardenburg Syndrome, which feature is NOT typically present?
Signup and view all the answers
What facial feature is associated with Cornelia de Lange Syndrome?
What facial feature is associated with Cornelia de Lange Syndrome?
Signup and view all the answers
Which syndrome is characterized by symptoms like rocker bottom feet and microcephaly?
Which syndrome is characterized by symptoms like rocker bottom feet and microcephaly?
Signup and view all the answers
Which condition is primarily identified in males and affects the cornea?
Which condition is primarily identified in males and affects the cornea?
Signup and view all the answers
Which condition is NOT associated with congenital heart defects?
Which condition is NOT associated with congenital heart defects?
Signup and view all the answers
Study Notes
Genetic Testing: Across the Lifespan
-
Types of Genetic Testing:
- Cytogenetic testing: Examines chromosomes.
- Linkage analysis: Looks at markers inherited with a gene that causes a genetic condition.
- Direct or molecular testing: Directly examines DNA and RNA.
- Biochemical testing: Examines protein products of genes.
-
Genetic Testing Availability:
- Prenatal diagnosis
- Carrier testing (always test women first).
- Confirmation of a genetic diagnosis.
- Predictive testing:
- Predispositional: Testing for BRCA1/2; doesn't mean disease development, just higher risk.
- Presymptomatic: Positive test for Huntington's means eventual disease development with enough time.
- Prenatal Testing includes screening and diagnostic testing.
- Screening is not definitive, and indicates risk of certain birth defects or chromosomal abnormalities.
- Diagnostic testing indicates specific genetic conditions in a fetus.
Ethnic Backgrounds at Increased Risk
- Ashkenazi Jewish: Gaucher disease, cystic fibrosis, Tay-Sachs, Canavan disease, Fanconi anemia, Niemann-Pick, and Bloom syndrome.
- French-Canadian: Tyrosinemia, Tay-Sachs disease.
- African-American: Sickle cell anemia.
- Mediterranean: Beta-thalassemia.
- Southwest Asian: Beta-thalassemia, Alpha-thalassemia.
- Northern European: Beta-thalassemia, Alpha-thalassemia, Hemochromatosis, Alpha-antitrypsin deficiency.
Goals of Prenatal Testing
- Lessen anxiety, especially in couples with a strong family history of genetic conditions.
- Treat some conditions prenatally (e.g., neural tube defects).
- Allow couples to prepare for a child with a genetic condition.
- Give families the option of having their child born in a healthcare facility with appropriate resources.
- Enable some infertile couples to have a child without the genetic condition (e.g., using donor gametes or preimplantation genetic diagnosis).
Types of Prenatal Testing
-
Noninvasive Prenatal Screening:
- Maternal serum screening
- Ultrasound
-
Invasive Diagnostic Testing:
- Chronic villi sampling (11-13 weeks) -increased risk of miscarriage ~1:150
- Amniocentesis (15-18 weeks) -increased risk of miscarriage ~1:200
- Maternal Serum Screening- Blood test to identify women at increased risk of birth defects (15-20 weeks).
Previous Child with Chromosome Abnormalities
- Previous child with a chromosome abnormality
- Presence of a structural chromosome abnormality in one of the parents
- Family history of a genetic disorder
- Abnormal maternal serum or ultrasound
Noninvasive Prenatal Genetic Diagnosis
- Benefits: definitive diagnosis, less risky, less expensive than invasive testing.
- Risks: decision to terminate, decrease in services for children with Down syndrome.
Carrier Screening
- Testing identifies individuals with genes for a genetic condition, without symptoms, that is inherited in an autosomal recessive manner.
- Both genes must be abnormal for the disorder to be expressed.
- Examples include PKU, Sickle Cell Anemia, Cystic Fibrosis, and Tay Sachs disease.
Newborn Screening
- Mandatory in most US states.
- Identifies PKU and hypothyroidism, as well as other conditions.
Predictive Testing (2 Types)
-
Predispositional:
- Genetic testing for BRCA1/2 mutations shows risk for, but does not guarantee, breast cancer.
-
Presymptomatic:
- Mutation analysis for Huntington's Disease determines if symptoms will appear, given enough time.
Genetic Testing for Cancer
- Families with a strong family history of cancer (especially at a young age) have a greater chance of finding a mutation using testing.
Predictive Testing for other conditions
- Detailed predictive testing is available for various conditions, including late-onset Alzheimer's disease. This assesses the APOE-e4 genetic markers.
Other Important Notes
- Oncotype Dx Story: A diagnostic assay for breast cancer recurrence.
- Familial Adenomatous Polyposis (FAP): High risk for colon cancer development.
- Hereditary Non-polyposis Colorectal Carcinoma (HNPCC): Cancer occurs at a younger age; usually before age 50.
- Whole Genome Sequencing: Used to diagnosis rare diseases.
- Prenatal History: Important factors, including multiple gestation.
- Anomalies: Major and minor anomalies.
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
Related Documents
Description
Explore the various types of genetic testing available throughout life, including cytogenetic testing, linkage analysis, and more. This quiz covers topics such as prenatal diagnosis, carrier testing, and predictive testing methods. Understand the implications of genetic tests and their impact on health.
