Podcast
Questions and Answers
What is the primary purpose of amniocentesis during pregnancy?
What is the primary purpose of amniocentesis during pregnancy?
Which advanced testing method is used when amniocentesis or chorionic villus sampling is not feasible?
Which advanced testing method is used when amniocentesis or chorionic villus sampling is not feasible?
What distinguishes Prenatal Chromosomal Microarray Analysis (CMA) from a traditional karyotype?
What distinguishes Prenatal Chromosomal Microarray Analysis (CMA) from a traditional karyotype?
Why may a pregnant person be referred to a genetic counselor?
Why may a pregnant person be referred to a genetic counselor?
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What element is NOT typically included in the treatment plan for a baby diagnosed with a genetic disorder during pregnancy?
What element is NOT typically included in the treatment plan for a baby diagnosed with a genetic disorder during pregnancy?
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What does the term 'genotype' refer to in genetics?
What does the term 'genotype' refer to in genetics?
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Which of the following best describes a karyotype?
Which of the following best describes a karyotype?
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In what scenario would a genotype be described as homozygous?
In what scenario would a genotype be described as homozygous?
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Which abbreviation represents Down syndrome?
Which abbreviation represents Down syndrome?
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What is the primary focus of genomics as a branch of genetics?
What is the primary focus of genomics as a branch of genetics?
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What distinguishes an inherited disorder from a congenital disorder?
What distinguishes an inherited disorder from a congenital disorder?
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Which statement accurately describes chromosomal aberrations?
Which statement accurately describes chromosomal aberrations?
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Which of the following would NOT typically be a part of nursing care related to genetic disorders?
Which of the following would NOT typically be a part of nursing care related to genetic disorders?
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What is the total number of chromosomes in a typical human somatic cell?
What is the total number of chromosomes in a typical human somatic cell?
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Which of the following conditions is an example of a single gene disorder?
Which of the following conditions is an example of a single gene disorder?
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Which of these factors does NOT increase the risk of having a baby with a genetic disorder?
Which of these factors does NOT increase the risk of having a baby with a genetic disorder?
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What is a characteristic of multifactorial (polygenic) inheritance?
What is a characteristic of multifactorial (polygenic) inheritance?
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Which chromosomal abnormality is characterized by an extra chromosome number 21?
Which chromosomal abnormality is characterized by an extra chromosome number 21?
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Which genetic disorder is more frequently associated with female births?
Which genetic disorder is more frequently associated with female births?
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What term describes disorders caused by a single gene mutation?
What term describes disorders caused by a single gene mutation?
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What could prenatal exposure to harmful substances lead to?
What could prenatal exposure to harmful substances lead to?
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What is a major challenge in predicting multifactorial disorders?
What is a major challenge in predicting multifactorial disorders?
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Which of the following statements about alleles is correct?
Which of the following statements about alleles is correct?
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What is the primary concern with teratogenic disorders during pregnancy?
What is the primary concern with teratogenic disorders during pregnancy?
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Which of the following is a characteristic of screening tests for genetic disorders?
Which of the following is a characteristic of screening tests for genetic disorders?
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What is an example of a teratogen that can affect fetal development?
What is an example of a teratogen that can affect fetal development?
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Noninvasive Prenatal Testing (NIPT) is primarily used to screen for what?
Noninvasive Prenatal Testing (NIPT) is primarily used to screen for what?
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Which diagnostic test is performed in the first trimester to analyze placental tissue?
Which diagnostic test is performed in the first trimester to analyze placental tissue?
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What kind of sample is typically used in carrier screening?
What kind of sample is typically used in carrier screening?
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What is true about diagnostic tests for genetic disorders during pregnancy?
What is true about diagnostic tests for genetic disorders during pregnancy?
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Which screening option is best performed before pregnancy, although it can also be done during pregnancy?
Which screening option is best performed before pregnancy, although it can also be done during pregnancy?
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What is a common outcome that screening tests attempt to identify during pregnancy?
What is a common outcome that screening tests attempt to identify during pregnancy?
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What is the best description of the developmental sensitivity during the first trimester of pregnancy?
What is the best description of the developmental sensitivity during the first trimester of pregnancy?
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Study Notes
NUR C202: Care of Mother and Child at Risk or with Problems (Acute and Chronic)
- Course is offered by Gina M. Dumawal RN, MAN at José Rizal University
- Course covers care for mothers and children at risk or with problems, both acute and chronic
Genetics and Genetic Counseling
- Genetics is the study of genes, heredity, and variations in living organisms
- Gregor Mendel is considered the father of Genetics
- The term "Genetics" was coined by William Bateson
Objectives
- Students will describe the nature of inheritance, patterns of recessive and dominant Mendelian inheritance, and common chromosomal aberrations causing physical or cognitive disorders.
- Students will assess a family's adjustment to the probability of inheriting a genetic disorder.
- Students will formulate nursing diagnoses related to genetic disorders.
- Students will plan nursing care related to potential genetic health alterations, such as assisting with amniocentesis.
- Students will implement nursing care like counseling families with genetic disorders.
- Students will evaluate expected outcomes for care effectiveness.
- Students will integrate knowledge of genetic inheritance with nursing process.
Introduction to Genetics
- The human body contains trillions of cells, each with a nucleus (except red blood cells).
- Each nucleus has 46 chromosomes, arranged in 23 pairs.
- One chromosome from each pair comes from each parent.
- Chromosomes are composed of tightly coiled DNA strands.
- Genes are segments of DNA containing instructions for making proteins.
Introduction to Genetics (More Detail)
- Genome: The complete set of genetic material in an organism (approximately 50,000 to 100,000).
- Normal Genome: Abbreviated as 46XX or 46XY, with additional details for chromosomal aberrations (e.g., Down syndrome as 47XX21 or 47XY21).
- Phenotype: An individual's outward appearance.
- Genotype: An individual's actual genetic makeup.
- Homozygous: A person having two identical genes for a trait on similar chromosomes.
- Heterozygous: A person having two different genes for a trait on similar chromosomes.
- Inherited/genetic disorders passed down from one generation to the next.
Karyotype
- A schematic representation of chromosomes, demonstrating their numbers and morphology.
- Hereditary: Characteristics (traits) derived from parents.
- Familial: Characteristics (traits) transmitted through generations.
- Congenital: Present at birth (not always genetically determined; examples include congenital syphilis, toxoplasmosis).
Introduction to Genetics (Genes, Chromosomes, DNA)
- Humans have 46 chromosomes (22 pairs of autosomes and 1 pair of sex chromosomes).
- Sperm and egg cells each carry 23 chromosomes.
- For each chromosome in a sperm cell, there's a similar chromosome in shape and function (autosome or homologous chromosome) in an egg cell.
- Two like genes (alleles) are paired (represented on autosomes) for each trait.
- The one chromosome that determines gender (sex).
Role of Nurse in Genetics
- Nurses encounter individuals/families impacted by genetic diseases.
- Nurses bridge patients and healthcare services.
- Nurses need a foundational knowledge of genetics.
Genetic Counseling and Interviewing
- Interview individuals with suspected genetic disorders.
- Gather detailed clinical histories (three generations) of family history.
- Refer individuals with genetic disorders to the appropriate doctor.
Planning, Screening, or Gene-Based Testing Programs
- Provide education about genetics and genetic testing.
- Create and interpret pedigree charts for genetic disorder analysis.
- Assess genetic risks, especially when combined with genetic testing.
Monitoring
- Following up on positive newborn genetic screening tests.
- Monitoring individuals with diagnosed genetic disorders.
- Supporting families facing genetic disorders.
Care
- Develop personalized plans of care and services for affected patients.
- Participate in public education initiatives about genetics.
- Maintain confidentiality and privacy of patient's genetic information.
Educational Role
- Educate individuals/families about the influence of genetics and environmental factors on health and disease.
- Assist family members in identifying Mendelian inheritance patterns (pedigree/family trees) of genetic disorders.
Impact of Genetic Conditions on Families
- Genetic conditions can have considerable social, physical/cognitive, and psychological impact on families.
- Genetic conditions can have significant financial implications and lead to economic hardship.
Impact of Genetic Conditions on Families (Continued)
- Guilt and/or emotional distress occur when individuals/families discover a genetic condition within their family.
- Depression can arise from genetic diagnoses and pregnancy and childbearing decisions.
Mechanism of Inheritance
- Mode of inheritance is how a genetic trait or disorder is passed down from one generation to the next.
Classification of Genetic Disorder
- Single gene (monogenic), or Mendelian, disorders: Disorders arising from a mutation in a single gene (e.g., cystic fibrosis, sickle cell anemia).
- Chromosomal disorders: Disorders caused by abnormalities in the number or structure of chromosomes (e.g., Down syndrome).
- Complex/multifactorial/polygenic disorders: Disorders resulting from a combination of genetic and environmental factors (e.g., cleft lip/palate, heart defects).
Single Gene or Monogenic Disorders/Mendelian Disorders
- Inherited in pairs (one gene from each parent).
- One gene may outweigh the other.
- The overshadowing gene is considered dominant.
- The gene overshadowed is considered recessive.
- Four common patterns of inheritance for Mendelian disorders: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive.
Autosomal Dominant Pattern of Inheritance
- Location: Autosomes
- Required genes: One copy of the abnormal gene sufficient.
- Affected individuals: Both males and females equally.
- Pattern: Every affected individual will have an affected parent.
- Risk of transmission: 50% chance of transmitting to children (with an affected parent).
Autosomal Dominant Pattern of Inheritance (Continued)
- Two affected parents: 75% chance of the child being affected and 25% chance of the child being normal.
Autosomal Recessive Pattern of Inheritance
- Location: Autosomes
- Required genes: Two copies of the abnormal gene essential for expression.
- Affected individuals: Both males and females equally.
- Carrier state: An individual with one copy of the abnormal gene is a carrier.
- Pattern: Requires both parents to carry the abnormal gene for children to be at risk.
Autosomal Recessive Pattern of Inheritance (Continued)
- Heterozygous parents: Transmission to children - 25% chance of being affected, 50% chance of being a carrier, and 25% chance of being normal.
- One affected parent and one normal parent: The child will be unaffected heterozygotes
X-Linked Pattern of Inheritance
- Almost all sex-linked disorders are X-linked.
- Males with Y-linked mutations are generally infertile.
- Clinical expression different between males and females.
- Most X-linked disorders are recessive.
- Females with two X chromosomes: Expression of the disorder depends on whether it is dominant or recessive. Typically, females are carriers but less likely to be affected.
- Affected mothers (with a recessive X-linked trait): Affected male offspring only.
X-Linked Recessive Trait
- Location: X chromosome
- Required Genes: One abnormal gene in males; two in females (to show effects).
- Males: More likely to be affected (single X chromosome).
- Inheritance: Transmission through female carriers.
X-Linked Recessive Trait (Risks of Inheritance)
- Affected male, normal female: All sons normal; all daughters carriers.
Genetic Inheritance of a Disease (Multifactorial/Polygenic)
- Inheritance of a disease (multifactorial), result from numerous gene combinations, often combined with environmental factors.
- No clear hereditary pattern in these conditions.
- Can have an increased frequency in one sex vs. another (e.g., cleft palate).
Risk Factors for Genetic Disorders
- Family history of genetic disorders.
- Prior child with a genetic disorder.
- Parent with a chromosomal abnormality.
- Advanced maternal/paternal age.
- Multiple miscarriages/prior stillbirth.
- Prenatal exposure to harmful substances (alcohol, certain drugs, etc.).
Types of Disorders That Can be Seen During Pregnancy
- Single Gene/Mendelian disorders: Occur when a change in gene causes a disease (e.g., cystic fibrosis, sickle cell anemia, hemophilia).
- Chromosomal abnormalities: Involves extra or missing chromosomes, or structural changes (e.g., Down syndrome).
- Multifactorial/complex disorders: Results from a combination of genetic and environmental factors (e.g., heart defects, cleft lip/palate).
- Teratogenic disorders: Occur when a developing baby is exposed to harmful substances during pregnancy, causing abnormalities.
Testing for Genetic Disorders
- Screening tests: Estimate the risk of a genetic disorder.
- Diagnostic tests: Detect the presence or absence of a genetic disorder.
- These tests may involve blood, tissue, and/or fluid samples, as well as other procedures (e.g., amniocentesis, chorionic villus sampling). Advanced diagnostic techniques are available, such as fetal cell/blood sampling, chromosomal microarray analysis, and fetal genome sequencing.
Genetic Counseling
- Assess personal risk of having a child with a genetic disorder.
- Review testing options.
- Coordinate, interpret results of genetic screenings, and diagnostic tests.
- Offer emotional support and educational resources to families.
- Provide informed decision-making support for treatment plan and medical care.
Treatment for Fetal Genetic Disorders
- Treatment plans are individualized according to the diagnosis, pregnancy progression, and family preferences.
- This treatment ranges from therapies during pregnancy to postnatal surgical and medical interventions.
- A multidisciplinary healthcare team is often involved in treatment and care (e.g., medical and genetic specialists).
- Supports for families are also essential.
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Description
This quiz focuses on the essential care practices for mothers and children who are at risk or facing acute and chronic issues. Students will explore various aspects of genetics and its implications for nursing diagnoses and care planning related to genetic disorders. Understanding genetic inheritance patterns is key to effective nursing care in these contexts.
