Genetic Assessment and Counseling
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Questions and Answers

Which of the following statements best describes autosomal dominant disorders?

  • The sex of the affected individual is important in terms of inheritance.
  • The affected individual inherits the disorder from one affected parent. (correct)
  • The disorder only affects males.
  • Both parents must carry the gene for the child to be affected.

In X-linked recessive inheritance, which statement is most accurate?

  • Both males and females are equally affected.
  • Only males in the family will have the disorder. (correct)
  • Females are more likely to be affected.
  • Only females in the family will have the disorder.

Which of the following is characteristic of autosomal recessive inheritance?

  • One parent is affected, and the other is a carrier.
  • Sons of affected men always inherit the disorder.
  • Both parents are clinically unaffected but carriers of the gene. (correct)
  • The disorder appears in every generation.

In X-linked dominant inheritance, which statement is most accurate regarding the children of affected men?

<p>All female children will be affected. (C)</p> Signup and view all the answers

Which statement is most accurate regarding multifactorial inheritance?

<p>It involves multiple genes combined with environmental factors. (A)</p> Signup and view all the answers

Abnormalities occur if the division is uneven in?

<p>Nondisjunction abnormalities (B)</p> Signup and view all the answers

What is a key nursing responsibility in genetic counseling?

<p>Supporting the couple during the wait for test results. (B)</p> Signup and view all the answers

Which of the following assessments or diagnostic tests is used to learn more about the chromosome structure?

<p>Karyotyping (A)</p> Signup and view all the answers

According to Republic Act 9262, who is considered a victim of violence?

<p>A woman who is or was in an intimate relationship with the abuser or has a child with the abuser. (A)</p> Signup and view all the answers

Which of the following is an example of economic abuse as defined by RA 9262?

<p>Controlling all the financial resources and preventing the woman from accessing them. (C)</p> Signup and view all the answers

What is the immediate intervention for a nurse suspecting intimate partner abuse?

<p>Providing information on how to call the police and go to a shelter. (A)</p> Signup and view all the answers

What assessment finding might raise a nurse's suspicion of intimate partner violence?

<p>The woman declines laboratory tests if they involve additional transportation. (B)</p> Signup and view all the answers

The primary purpose of blood transfusion is?

<p>Restore oxygen-carrying capacity. (D)</p> Signup and view all the answers

Which blood product is primarily used to increase oxygen-carrying capacity in patients with anemia?

<p>Packed red blood cells (PRBCs) (A)</p> Signup and view all the answers

What laboratory test identifies the patient's blood type and Rh factor?

<p>Blood typing (A)</p> Signup and view all the answers

What is the most important initial nursing action during a blood transfusion?

<p>Assessing the client's vital signs and physical examination for possible transfusion reactions. (A)</p> Signup and view all the answers

A client receiving a blood transfusion develops chills, fever, and lower back pain. What is the immediate nursing action?

<p>Stop the transfusion and notify the physician. (A)</p> Signup and view all the answers

A nurse is preparing to administer a blood transfusion. What IV solution should be used to prime the blood transfusion tubing?

<p>0.9% sodium chloride (normal saline) (D)</p> Signup and view all the answers

Which factor classifies a pregnancy as 'high risk'?

<p>Threatens either the health or the life of the mother and the fetus. (A)</p> Signup and view all the answers

Social and personal factors can contribute to a high-risk pregnancy, which of the following is an example?

<p>Low income and poor educational level. (A)</p> Signup and view all the answers

Certain maternal conditions during pregnancy can have implications for the fetus. What is an example of this?

<p>Poor nutrition, fetal malnutrition. (B)</p> Signup and view all the answers

What is the significance of performing a triple screen during prenatal care?

<p>Screen for specific genetic disorders or neural tube defects. (C)</p> Signup and view all the answers

A patient who may require an abortion due to medical necessity is experiencing...

<p>Pregnancy is of risk to life of the woman. (D)</p> Signup and view all the answers

Which of the following signs could be associated with a blood loss/shock?

<p>Hypotension (B)</p> Signup and view all the answers

A ruptured fallopian tube or tubal pregnancy is an example of what?

<p>Anectopic pregnancy (A)</p> Signup and view all the answers

Sharp localized pain when cervix is touched is likely an indication of what?

<p>Ectopic pregnancy (D)</p> Signup and view all the answers

Which of the following is a characteristic of Hydatidiform Mole:

<p>Abnormal proliferation (C)</p> Signup and view all the answers

What is the risk factor for Hyadatidiform Mole?

<p>Asian women (C)</p> Signup and view all the answers

After evacuation of a Hydatidiform Mole, when is HCG titer testing neccesary?

<p>One year (D)</p> Signup and view all the answers

Why advise bedrest in cases of Incompetent Cervix?

<p>Avoid heavy lifting (C)</p> Signup and view all the answers

Common injuries suffered by abused women are:

<p>Bruises and Lacerations (D)</p> Signup and view all the answers

Which of the following is not a type of abruptio placenta?

<p>External (C)</p> Signup and view all the answers

What is the primary goal of management of severe hemorrhage?

<p>Maintain bed rest, LLR (B)</p> Signup and view all the answers

Which statement best describes the etiology of PROM (Premature Rupture Of Membranes)?

<p>Cause is unknown (C)</p> Signup and view all the answers

Which management is most important in PROM (Premature Rupture Of Membranes)?

<p>Initial Assessment Objectives (C)</p> Signup and view all the answers

If a pregnant client with heart disease has a symptom of hemoptysis, what can this indicate?

<p>Fluid overload in lungs (C)</p> Signup and view all the answers

With respect to the NYHA (New York Heart Association functional grading scale for the heart disease) which functional grading indicates slight limitation of physical activity with normal activity?

<p>Grade II (C)</p> Signup and view all the answers

While pregnant and receiving medical attention the client with a Ht (history) of medical condition, VSD (Ventricular Septal Defect), Cautious with Iv fluids is what?

<p>75ml/hr except (D)</p> Signup and view all the answers

Gestational diabetes comprises for what percentage of pregnancies?

<p>1%-14% (B)</p> Signup and view all the answers

What is the main component in the treatment of GDM (Gestational diabetes mellitus)?

<p>Medical Nutritional (C)</p> Signup and view all the answers

What is defined as high sugar on a pregnant client?

<blockquote> <p>95mg/dL (C)</p> </blockquote> Signup and view all the answers

What is the test result required during an Rh iso-immunization diagnosis?

<p>Indirect Coombs test (D)</p> Signup and view all the answers

What the correct intervention for magnesium toxicity?

<p>Calcium (D)</p> Signup and view all the answers

After the surgical procedure, what is the most recommended course of action?

<p>Skin preparation (D)</p> Signup and view all the answers

What is a contraindication regarding amniotomy?

<p>The lie of the baby (A)</p> Signup and view all the answers

What is the Bishop score assessing?

<p>Ripen cervix (D)</p> Signup and view all the answers

After the cervical examination and reaches 4cm, what is performed to increase labor??

<p>rupture the membranes artificially (D)</p> Signup and view all the answers

What is the action of a vapor chloride spray at the time and site of the injection?

<p>Anesthesia (A)</p> Signup and view all the answers

Hypotonic uterine contraction is:

<p>Infrequent contractions (A)</p> Signup and view all the answers

A patient with a hx a contracted pelvis might what?

<p>Difficulty during delivery (D)</p> Signup and view all the answers

What may occur for labor due precipitate(labor is complete in <3hrs):

<p>Hypoxia and hemorrhage (C)</p> Signup and view all the answers

What is the range for maternal anti D?

<p>300 mcg anti D in 28 weeks (A)</p> Signup and view all the answers

After the fetus is born spontaneously breathing and shown mom/support person, if CSection birth what to do

<p>The support holds the baby immediately (A)</p> Signup and view all the answers

When are you going to notify the charge nurse and blood bank?

<p>When doesn't match (C)</p> Signup and view all the answers

Flashcards

RA 9262: Anti-Violence

Act/series of acts by an intimate partner against a woman (wife, ex, dating) or her child.

Intimate Partner Abuse

Harm inflicted by a family member against another adult in the household.

Blood Transfusion

Replacing blood components into venous circulation to restore functions.

Blood Transfusion

Introducing whole blood or components to a patient via vein.

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Nursing: Blood Transfusion

Assesses vital signs, fluid balance, infusion site during transfusion.

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High-Risk Pregnancy

Condition threatening mother/fetus health, needing specialized care.

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Abortion

Termination of a pregnancy usually before 20-24 weeks.

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Spontaneous Abortion

Spontaneous abortion; No medical intervention

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Ectopic Pregnancy

Pregnancy grows outside uterus, often in fallopian tube.

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Hydatidiform Mole

Abnormal gestation with trophoblastic villi becoming fluid-filled cysts.

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Incompetent Cervix

Condition after delivery, causing dilation and expulsion of the POC.

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Abruptio Placentia

Placenta separates early; before birth, causing bleeding.

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Preterm Labor

Labor occurring before 37 weeks gestation.

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Premature Rupture

Membrane ruptures before labor.

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Gravidocardia

Heart disease during pregnancy, assess risk factors and manage classification.

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Gestational Diabetes

Any degree of glucose intolerance first recognized during pregnancy.

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Diabetes Type 1

DM with Immune destruction beta pancreas cells leading in insulin defeciency

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Diabetes Type 2

DM with insulin resistance and relative insulin deficiency

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Nursing Neuropathy

The goal of treatment: stable and optimal glycemic control.

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Rh Isoimmunization

Monitor cord blood type to determine isoimmunization risk.

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Anemia in Pregnancy

Decreased RBC count/hemoglobin during pregnancy.

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Pregnancy Induced Hypertension

High blood pressure arises during pregnancy

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Ineffective Contractions

A condition wherein uterine contractions that has occurred are abnormal.

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"(Force of Labor) Inertia"

The sluggishness of contractions, or the force of labor.

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Contraction Rings

Occurs at the junctions of upper and lower uteral segements interferes fetal descents.

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Precipitate Labor

Labor that moves with greater momentum of intensity of uterine contractions

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Premature Rupture, PROM

Occurs at time after the first period of viability. Before birth of labor starts.

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Occipitoposterior Position

Malpresentation of the fetus and the baby is oriented facing backwards.

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Breech Position

Fetus is placed in bottom down/pelvis to thorax presentation.

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Transverse Lie

Fetus lays sideways/transverse in maternal abdominal area.

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Oversized Fetus

High or increased birth rate and difficult to control.

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Umbilical cord prolapse

Cord presses against the head.

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Uterine Inversion

Inversion occurs in what degree the inverted fundus may line to. Waking up to a big problem.

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Phototherapy

Special source, light to special parts that exposes bilirubin of infant exposed area.

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Pospartum Hemorrage

Blood Loss. ( >500 ml at a 24 hour period)

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Postpartum Hemorrhage

Atonic/Laceration/Retained placentis

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Uterine Atoms

Reversal blood flow loss and postatrum state.

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Infertility

Disturbances sperm motes, and more.

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Laporoscopy

A surgical assistance designed the for inspecting uterus.

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Study Notes

Genetic Assessment and Counseling

Genetic Disorders

  • These involve alterations in an individual's genetic material leading to various health problems.

Nature of Inheritance

  • Determines how a genetic trait or disorder is passed from parents to offspring.

Mendelian Inheritance

  • Describes patterns of inheritance based on the work of Gregor Mendel, involving dominant and recessive alleles.
  • This can be further divided into dominant and recessive patterns.

Dominant Pattern

  • Only one copy of a dominant allele is needed for the trait or disorder to be expressed.

Recessive Patterns

  • Two copies of a recessive allele are necessary for the trait or disorder to be expressed.

Inheritance of Disease

  • Understanding how diseases are inherited is crucial for genetic counseling and risk assessment.

Autosomal Inheritance

Autosomal Dominant Disorders

  • Only one parent needs to carry the affected gene for a child to inherit the disorder.
  • Affects both sexes equally, with no sex-related differences in inheritance.
  • Usually a history of the disorder can be traced through family members.

Autosomal Recessive Inheritance

  • Both parents must carry the affected gene, though they may not express the disorder themselves.
  • Sex of the affected individual is not a factor.
  • Often, family history doesn't reveal previous cases, indicating a horizontal transmission pattern.

X-Linked Dominant Inheritance

  • All individuals carrying the dominant gene will be affected.
  • Affects all female children of affected men, while male children remain largely unaffected.
  • Present in every generation, demonstrating a vertical inheritance pattern.

X-Linked Recessive Inheritance

  • Disorder mostly manifests in males.
  • A history of infant girls dying at birth for unknown reasons often exists.
  • Sons of an affected man are unaffected, with carrier mothers passing on the gene.

Multifactorial (Polygenic) Inheritance

  • Traits are influenced by multiple genes and environmental factors.
  • Inheritance patterns lack predictability and do not follow Mendelian laws.
  • No clear inheritance pattern in family history.

Imprinting

  • Genetic material expression relies on the specific parent the chromosomal material is inherited from.
  • Helpful in tracking the origin of chromosomal anomalies.

Chromosomal Abnormalities (Cytogenetic Disorder)

Nondisjunction Abnormalities

  • Result from uneven chromosome division during reproductive cell formation.
  • Leading to zygotes with abnormal chromosome numbers, such as 47 or 45.

Deletion Abnormalities

  • Occur when part of a chromosome breaks during division, leading to a missing piece.

Translocation Abnormalities

  • Additional chromosomal material is acquired through another route.

Isochromosomes

  • Chromosome divides horizontally instead of vertically, creating chromosomes with mismatched arm lengths.

Mosaicism

  • Results from nondisjunction that takes place after fertilization has occurred
  • Giving rise to cells with variations in chromosome counts within the body.

Genetic Counseling

Purpose

  • Furnish people with detailed information covering the nature of inheritance process of inherited disorders.
  • Reassure that the disorder will or will not occur.
  • Enable educated decisions concerning future reproduction choices for those affected by the disorder.
  • Furnish help for those people facing affection from genetic disorders.

Who Should Seek Counsel

  • Couples with a history of congenital issues/metabolic issues for them/their children are encouraged to seek counsel.
  • Balanced translocation carriers are encouraged to seek council.
  • Couples of family history of child developing a genetic issue.

Nursing Responsibilities involved

  • Clear explanations for available diagnostic screenings/procedures to patients.
  • Help/Encourage patients to openly discuss their values, and make educated plans.
  • Support for couple while experiencing the waiting period for test results.

Genetic Disorders Assessment

Components

  • Family Past
  • Tests and Screenings (including karyotyping, and chorionic villi sampling.)
  • Physical Examination

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Description

Explores genetic disorders, inheritance nature including Mendelian, dominant and recessive patterns. Crucial knowledge for genetic counseling and risk assessment is provided.

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