Hematologic Disorders in Pregnancy
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Questions and Answers

What is the most prevalent risk factor for red blood cell isoimmunization?

  • Organ or tissue transplantation
  • Pregnancy (correct)
  • Traumatic injuries
  • Blood transfusion

    • Which of the following conditions is NOT an inherited anemia of pregnancy?

  • Thrombophilia (correct)
  • Spherocytosis
  • Elliptocytosis
  • G6PD deficiency

    • What is the primary concern regarding red blood cell isoimmunization in pregnancy?

  • Risk of blood clots
  • Increased risk of miscarriage
  • Fetal anemia (correct)
  • Maternal anemia

    • What does the term "isoimmunization" refer to?

    <p>The development of antibodies against foreign red blood cell antigens (C)</p> Signup and view all the answers

    What is the primary reason for the prevalence of Rh factor isoimmunization?

    <p>High rates of Rh negative individuals (C)</p> Signup and view all the answers

    What is the name of the prophylactic treatment used to prevent RHD antibody production?

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

    What is the function of RhoD immunoglobulin?

    <p>Prevents the mother's immune system from producing RhD antibodies (D)</p> Signup and view all the answers

    Which of the following conditions is NOT a hemoglobinopathy?

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

    What is the standard dose of RhoD immunoglobulin administered via intramuscular injection?

    <p>300 micrograms (D)</p> Signup and view all the answers

    When is RhoD immunoglobulin typically administered during pregnancy?

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

    What is the purpose of the Kleinhauer-Betke (KB) test?

    <p>To quantify the volume of fetal red blood cells in the maternal circulation (D)</p> Signup and view all the answers

    When is a second dose of RhoD immunoglobulin typically given?

    <p>Following delivery if the newborn is confirmed to be Rh positive (B)</p> Signup and view all the answers

    What is the maximum volume of fetal blood that a standard 300 microgram dose of RhoD immunoglobulin can protect against?

    <p>30 milliliters (D)</p> Signup and view all the answers

    What is a potential complication of a large maternal-fetal transfusion?

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

    What is the recommended timeframe for administering RhoD immunoglobulin after a potential exposure event?

    <p>Within 72 hours (C)</p> Signup and view all the answers

    What is the purpose of performing an antibody screen on pregnant women at the initiation of prenatal care?

    <p>To detect the presence of antibodies against red blood cells (C)</p> Signup and view all the answers

    Which of the following red blood cell antigens is most commonly associated with severe fetal hemolytic anemia?

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

    What is a potential reason for repeating an antibody screen at the time of RhoD prophylaxis between 26 and 28 weeks of gestation?

    <p>To detect the emergence of new antibodies (A)</p> Signup and view all the answers

    What is the most common clinical presentation of fetal effects of isoimmunization?

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

    What is hydrops fetalis?

    <p>A condition characterized by an accumulation of fluid within fetal tissues and body compartments (C)</p> Signup and view all the answers

    What is the most common cause of fetal anemia leading to hydrops fetalis?

    <p>Maternal red blood cell antibodies attacking fetal red blood cells (D)</p> Signup and view all the answers

    When is a mini-dose formulation of RhoD immunoglobulin typically used?

    <p>When the exposure to fetal blood is determined to be small (B)</p> Signup and view all the answers

    What is the inheritance pattern of Rh status?

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

    Which of the following situations would NOT typically require RhoD immunoglobulin prophylaxis?

    <p>Both parents are Rh negative (B)</p> Signup and view all the answers

    What is the defining characteristic of heritable anemias as opposed to other types of anemia?

    <p>They are caused by a genetic predisposition to low blood oxygen carrying capacity. (B)</p> Signup and view all the answers

    What is the most common form of anemia during pregnancy?

    <p>Iron deficiency anemia (C)</p> Signup and view all the answers

    What is the significance of the CDC's changing definition of anemia during pregnancy based on trimesters?

    <p>It takes into account natural physiological changes in blood volume. (B)</p> Signup and view all the answers

    Why are hemoglobin and hematocrit values considered late indicators of iron deficiency anemia?

    <p>They are only affected when iron deficiency is severe. (C)</p> Signup and view all the answers

    Which of the following statements accurately describes the inheritance pattern of G6PD deficiency?

    <p>X-linked recessive inheritance (C)</p> Signup and view all the answers

    What is the most common factor that triggers a hemolytic crisis in individuals with spherocytosis?

    <p>Infection or trauma (B)</p> Signup and view all the answers

    How do heritable anemias differ from other types of anemia in terms of their impact on pregnancy?

    <p>They are often diagnosed for the first time during pregnancy. (C)</p> Signup and view all the answers

    What is the potential impact of high hemoglobin and hematocrit levels during pregnancy?

    <p>Increased risk of preterm labor and delivery. (A)</p> Signup and view all the answers

    What is the primary difference between G6PD deficiency and spherocytosis?

    <p>Spherocytosis is not associated with a provoking agent like G6PD deficiency. (A)</p> Signup and view all the answers

    Which of the following statements is TRUE regarding elliptocytosis?

    <p>Elliptocytosis is characterized by a distorted and elongated shape of red blood cells. (C)</p> Signup and view all the answers

    Why are blood volume expansions during pregnancy crucial for fetal health?

    <p>They ensure a sufficient supply of oxygen to the fetus. (D)</p> Signup and view all the answers

    What is the primary concern regarding hemoglobinopathies in pregnancy?

    <p>Potential impacts on fetal growth and development (C)</p> Signup and view all the answers

    How can heritable anemias complicate pregnancy?

    <p>All of the above. (D)</p> Signup and view all the answers

    What is the primary reason for the high rate of maternal deaths attributed to anemia in third world countries?

    <p>High rates of postpartum hemorrhage (A)</p> Signup and view all the answers

    Which of the following hemoglobinopathies is characterized by a quantitative abnormality in hemoglobin synthesis?

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

    What are the implications of reduced oxygen availability in the fetal environment?

    <p>All of the above. (D)</p> Signup and view all the answers

    Which of the following statements is TRUE about the inheritance pattern of spherocytosis?

    <p>Spherocytosis is inherited in an autosomal dominant pattern. (C)</p> Signup and view all the answers

    What is the primary effect of the genetic defect in spherocytosis?

    <p>Abnormal shape of red blood cells (C)</p> Signup and view all the answers

    What is the physiological mechanism behind the link between anemia and preterm labor?

    <p>Reduced oxygenation triggers inflammation (A)</p> Signup and view all the answers

    What is the primary focus of this content?

    <p>The impact of anemia on maternal and fetal health outcomes. (A)</p> Signup and view all the answers

    Which of the following conditions is commonly characterized by a hyperproliferative anemia?

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

    What is the primary recommendation for prenatal care for women with spherocytosis?

    <p>Vigilant monitoring for acute hemolytic crisis (B)</p> Signup and view all the answers

    What is the most accurate interpretation of the statement: "Hemoglobin and hematocrit values are late indicators of oxygen-carrying capacity changes for red blood cells when iron deficiency is suspected"?

    <p>Hemoglobin and hematocrit tests are insensitive to mild iron deficiency. (D)</p> Signup and view all the answers

    What is the primary difference between elliptocytosis and spherocytosis?

    <p>Elliptocytosis is typically a milder form of anemia. (C)</p> Signup and view all the answers

    Why do hemoglobin and hematocrit values tend to be lower among African-Americans?

    <p>They have differences in red blood cell production based on ethnicity. (C)</p> Signup and view all the answers

    Which of the following is a diagnostic test for elliptocytosis?

    <p>All of the above (D)</p> Signup and view all the answers

    Which specific hemoglobin is the most abundant form during the fetal period?

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

    Which of the following is NOT mentioned as a potential factor affecting hemoglobin and hematocrit values?

    <p>Dietary habits. (C)</p> Signup and view all the answers

    What is the most prevalent form of hemoglobin in adults?

    <p>Hemoglobin A1 (B)</p> Signup and view all the answers

    What is the most significant consequence of anemia during pregnancy, as highlighted in the content?

    <p>Reduced fetal growth. (C)</p> Signup and view all the answers

    Which of the following accurately describes the effect of the genetic defect in elliptocytosis?

    <p>It causes a decrease in the red blood cell's ability to carry oxygen. (B)</p> Signup and view all the answers

    What is the main difference between alpha and beta thalassemia?

    <p>Alpha thalassemia affects the production of alpha globin chains, while beta thalassemia affects beta globin chains. (B)</p> Signup and view all the answers

    What is the primary difference between thalassemia and structural hemoglobinopathies?

    <p>Thalassemia affects the quantity of hemoglobin produced, while structural hemoglobinopathy affects the quality of hemoglobin. (B)</p> Signup and view all the answers

    What is the inheritance pattern of thalassemias?

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

    What is the most severe form of alpha thalassemia that is compatible with life outside the womb?

    <p>Hemoglobin H disease (D)</p> Signup and view all the answers

    What is the primary function of the alpha and beta chains in hemoglobin?

    <p>To carry oxygen throughout the body (B)</p> Signup and view all the answers

    What is the most common cause of alpha thalassemia?

    <p>Deletions of the alpha globin genes (A)</p> Signup and view all the answers

    What clinical feature is commonly observed in individuals with both alpha and beta thalassemia?

    <p>Low MCV (mean corpuscular volume) (B)</p> Signup and view all the answers

    What is the characteristic clinical feature of alpha thalassemia trait?

    <p>Mild microcytic anemia, potentially difficult to differentiate from iron deficiency. (C)</p> Signup and view all the answers

    What is the underlying cause of beta thalassemia?

    <p>Mutations in the beta globin genes (B)</p> Signup and view all the answers

    What is the clinical approach to diagnosing beta thalassemia?

    <p>Exclusion of iron deficiency and hemoglobin electrophoresis (D)</p> Signup and view all the answers

    What is the most common outcome of a homozygous alpha thalassemia (all four alpha globin genes inactive)?

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

    Which of the following is NOT a common symptom or clinical finding in individuals with alpha thalassemia?

    <p>Increased red blood cell count (A)</p> Signup and view all the answers

    What is the primary reason why beta thalassemia often leads to severe anemia?

    <p>Reduced production of beta globin chains, affecting hemoglobin synthesis (B)</p> Signup and view all the answers

    Why are thalassemias more common in certain populations like Mediterranean, African, Middle Eastern, and Southeast Asian populations?

    <p>Thalassemias provide some protection against malaria, making these mutations more prevalent in malarial areas. (A)</p> Signup and view all the answers

    What is the main function of hemoglobin F, or fetal hemoglobin, in the fetus?

    <p>To transport oxygen to the placenta for exchange with the mother. (B)</p> Signup and view all the answers

    What is the primary reason for recommending a daily supplement of folic acid for women with sickle cell disease?

    <p>To lower the risk of fetal growth restriction and preterm labor (C)</p> Signup and view all the answers

    Which of the following statements accurately describes the characteristics of women with sickle cell trait?

    <p>They are at a higher risk of urinary tract infections and pre-eclampsia compared to women without the trait. (B)</p> Signup and view all the answers

    What is the primary concern regarding the inheritance of sickle cell disease in women with sickle cell trait?

    <p>The possibility of the fetus inheriting the sickle cell trait. (E)</p> Signup and view all the answers

    What is the defining characteristic of hemoglobin S that leads to sickle cell disease?

    <p>It solidifies and deforms the erythrocyte into a sickle shape under conditions of low oxygen and dehydration. (A)</p> Signup and view all the answers

    Which of the following is NOT a hallmark of care for a pregnant woman experiencing a sickle cell crisis?

    <p>Administering low-dose aspirin to prevent blood clots. (C)</p> Signup and view all the answers

    What is the clinical significance of identifying hemoglobin C or hemoglobin E in a pregnant woman?

    <p>They are typically asymptomatic and do not significantly impact pregnancy outcomes. (B)</p> Signup and view all the answers

    Which of the following is a common characteristic of both thrombocytopenia and antiphospholipid syndrome in pregnancy?

    <p>They both require a specific type of management with anticoagulants and heparin. (D)</p> Signup and view all the answers

    What is the clinical threshold for diagnosing thrombocytopenia in pregnant women?

    <p>Less than 150,000 platelets per microliter (B)</p> Signup and view all the answers

    How does antiphospholipid syndrome affect pregnancy outcomes?

    <p>It contributes to a higher risk of blood clots and poor pregnancy outcomes. (A)</p> Signup and view all the answers

    What is the primary concern for women with thrombocytopenia during labor and delivery?

    <p>Excessive bleeding due to decreased platelet count, potentially requiring interventions. (C)</p> Signup and view all the answers

    What type of management strategy is typically used for women with antiphospholipid syndrome during pregnancy?

    <p>Anticoagulation therapy with heparin or low molecular weight heparin, often combined with low-dose aspirin. (A)</p> Signup and view all the answers

    What is the estimated contribution of thrombophilias to thromboembolic events in pregnancy?

    <p>Up to 50% or 60% (C)</p> Signup and view all the answers

    What is the primary characteristic of thrombophilias that makes them a concern for pregnancy?

    <p>They are hereditary genetic mutations that predispose individuals to venous clot formation. (D)</p> Signup and view all the answers

    Which of the following conditions generally indicates the need for anticoagulation therapy during pregnancy?

    <p>Multiple thrombophilia mutations (C)</p> Signup and view all the answers

    What is the most likely complication of antiphospholipid syndrome during pregnancy?

    <p>Recurrent unexplained miscarriage, stillbirth, and fetal growth abnormalities. (D)</p> Signup and view all the answers

    What symptoms are commonly associated with deep vein thrombosis (DVT)?

    <p>Unilateral swelling and pain (D)</p> Signup and view all the answers

    What is the role of midwives in the care of pregnant women with sickle cell trait or disease?

    <p>Midwives may provide care in collaboration with physicians, particularly in high-risk settings. (E)</p> Signup and view all the answers

    When is fetal surveillance generally recommended for women with thrombophilias?

    <p>Starting at near term gestational ages, such as 36 weeks (A)</p> Signup and view all the answers

    Which of the following is NOT a typical feature of antiphospholipid syndrome?

    <p>Sudden onset of severe anemia and vaso-occlusive crises. (B)</p> Signup and view all the answers

    Which of the following statements regarding pulmonary embolism (PE) during pregnancy is true?

    <p>PE is more likely during labor, birth, and the postpartum period (C)</p> Signup and view all the answers

    What role do midwives often play in the management of thromboembolism during pregnancy?

    <p>They may participate in screening, diagnosis, and treatment (C)</p> Signup and view all the answers

    What is a significant indicator for prophylactic anticoagulation during pregnancy?

    <p>Unexplained DVT or PE history (B)</p> Signup and view all the answers

    What type of thrombophilia is most influential on pregnancy outcomes?

    <p>All of the above (D)</p> Signup and view all the answers

    What is the primary factor that determines the severity of beta thalassemia?

    <p>Genetic homozygosity or heterozygosity (A)</p> Signup and view all the answers

    What characterizes beta thalassemia major?

    <p>Severe anemia requiring transfusions (D)</p> Signup and view all the answers

    Which finding is least likely in beta thalassemia minor?

    <p>Severe anemia symptoms (B)</p> Signup and view all the answers

    What is often required for the management of pregnancies affected by thalassemia?

    <p>Iron and folate supplementation (C)</p> Signup and view all the answers

    What does hemoglobin electrophoresis reveal in a patient with beta thalassemia minor?

    <p>Hemoglobin F percentage greater than 2 (C)</p> Signup and view all the answers

    Which group is more likely to have beta thalassemia trait?

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

    Which of the following indicates a need for further screening for thalassemia during pregnancy?

    <p>Low hemoglobin levels unresponsive to iron (A)</p> Signup and view all the answers

    What is a common clinical feature of beta thalassemia major?

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

    What type of inheritance pattern is seen in compound inheritance with thalassemia?

    <p>Heterozygous mutations for different types of thalassemia (C)</p> Signup and view all the answers

    Which complication is associated with alpha thalassemia major?

    <p>Fetal hydrops or stillbirth (B)</p> Signup and view all the answers

    Which is a common symptom of individuals with beta thalassemia minor?

    <p>Chronic microcytic anemia (C)</p> Signup and view all the answers

    What is the primary purpose of prenatal genetic diagnosis in thalassemia?

    <p>To assess the carrier status of both parents (B)</p> Signup and view all the answers

    What is a significant finding in the context of beta thalassemia major regarding life expectancy?

    <p>Significantly shortened life expectancy (D)</p> Signup and view all the answers

    Which factor contributes to the bone changes seen in patients with beta thalassemia major?

    <p>Increased red blood cell production (B)</p> Signup and view all the answers

    What is the primary purpose of hemoglobin electrophoresis?

    <p>To determine an individual's hemoglobin makeup (D)</p> Signup and view all the answers

    Which type of hemoglobin should be present in the largest proportion in normal adults?

    <p>Hemoglobin A1 (A)</p> Signup and view all the answers

    What characterizes sickle cell disease?

    <p>Production of abnormal hemoglobin S (B)</p> Signup and view all the answers

    What is the prevalence of sickle cell trait among African-Americans?

    <p>Approximately 1 in 12 live births (D)</p> Signup and view all the answers

    What is the expected percentage of hemoglobin F in normal adults?

    <p>Less than 2% (C)</p> Signup and view all the answers

    Which condition presents milder symptoms compared to true sickle cell disease?

    <p>Sickle cell hemoglobin C disease (B)</p> Signup and view all the answers

    What significant risk is associated with pregnancies affected by sickle cell disease?

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

    What describes individuals who are heterozygous for the gene variant that produces hemoglobin S?

    <p>They are carriers without any symptoms (A)</p> Signup and view all the answers

    What does hemoglobin S cause the affected red blood cells to do?

    <p>Morph into a sickle shape (D)</p> Signup and view all the answers

    What is the estimated prevalence of compound inheritance of both sickle cell and beta thalassemia?

    <p>1 in 2,000 live births (C)</p> Signup and view all the answers

    Which hemoglobin type should normally have a percentage of less than 3% in adults?

    <p>Hemoglobin A2 (D)</p> Signup and view all the answers

    What can be a consequence of sickle cell trait during pregnancy?

    <p>No increase in risk of miscarriage (C)</p> Signup and view all the answers

    What advantage is believed to be conferred by hemoglobin S in certain regions?

    <p>Protection against malaria (A)</p> Signup and view all the answers

    How do the erythrocytes of sickle cell beta thalassemia compare to normal erythrocytes?

    <p>They are smaller and hypochromic (B)</p> Signup and view all the answers

    What is the genotype for individuals homozygous for hemoglobin S?

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

    What is the main reason why G6PD deficiency is often associated with populations of Mediterranean descent, Sephardic and Asiatic Jewish heritage, and African subgroups?

    <p>These populations have a genetic predisposition to develop G6PD deficiency. (A)</p> Signup and view all the answers

    In what way does G6PD deficiency impact the risk of urinary tract infections (UTIs) in pregnant women?

    <p>G6PD deficiency exacerbates the already increased risk of UTIs in pregnancy. (A)</p> Signup and view all the answers

    What triggers the anemia symptoms associated with G6PD deficiency?

    <p>Exposure to specific drugs, certain nutritional components, surgical procedures, or infection. (B)</p> Signup and view all the answers

    What would be the initial step in the management of a pregnant woman with a suspected new diagnosis of G6PD deficiency?

    <p>Discontinue any potential provoking drugs or food and obtain a physician consultation. (B)</p> Signup and view all the answers

    Which of the following factors influence the severity of G6PD deficiency symptoms in pregnant women?

    <p>All of the above. (D)</p> Signup and view all the answers

    What is the main clinical manifestation of G6PD deficiency in pregnancy?

    <p>Intermittent episodes of anemia related to exposure to provoking agents. (B)</p> Signup and view all the answers

    What is the recommended screening frequency for asymptomatic bacteriuria and G6PD disease process in pregnant women with G6PD deficiency?

    <p>Once per trimester. (B)</p> Signup and view all the answers

    Which of the following medications should be avoided in pregnant women with G6PD deficiency if a bacterial infection occurs?

    <p>Sulfonamides and nitrofurantoin. (A)</p> Signup and view all the answers

    What is the role of a midwife in managing a pregnant woman with a pre-existing diagnosis of mild G6PD deficiency in a population where G6PD deficiency is common?

    <p>Provide routine prenatal care with careful monitoring and follow standardized guidelines. (C)</p> Signup and view all the answers

    What is favism, and what population is it most commonly seen in?

    <p>A form of hemolytic disease triggered by the consumption of fava beans, most commonly seen in Mediterranean populations. (A)</p> Signup and view all the answers

    Why might a woman with G6PD deficiency experience fatigue and dizziness during pregnancy?

    <p>Due to the deficiency in red blood cells and reduced oxygen-carrying capacity. (B)</p> Signup and view all the answers

    What is the significance of understanding the episodic nature of G6PD deficiency?

    <p>It helps determine the specific triggers that induce anemia symptoms. (C)</p> Signup and view all the answers

    If a woman with G6PD deficiency presents with jaundice and tachycardia during pregnancy, what would be the most likely cause?

    <p>Anemia caused by G6PD deficiency. (D)</p> Signup and view all the answers

    What is the primary focus of antenatal care for a woman with a pre-existing diagnosis of G6PD deficiency?

    <p>Educating the woman about triggers and management strategies to prevent anemia. (C)</p> Signup and view all the answers

    What is the most important factor to prevent fetal growth abnormalities in pregnancies affected by G6PD deficiency?

    <p>Strict avoidance of any potentially provoking drugs and food substances. (C)</p> Signup and view all the answers

    Study Notes

    Hematologic Disorders in Pregnancy (Antenatal Care)

    • Red Blood Cell Isoimmunization (RHD):
      • Risk: Exposure to fetal red blood cell antigens can trigger maternal antibody production, crossing the placenta and harming the fetus.
      • Risk Factors: Blood transfusions, previous pregnancies, organ/tissue transplants, and trauma with blood mixing.
      • Rh Factor: Rh-negative mothers are at higher risk due to the prevalence of Rh-positive individuals.
      • Prevention: RhoD immunoglobulin (Rhophylac, RhoGAM) is administered routinely to Rh-negative pregnant women.
        • Timing: Late second or early third trimester (26-28 weeks gestation).
        • Second Dose: May be needed following birth if baby is Rh-positive.
        • Other indications: Abdominal trauma, amniocentesis/CVS, miscarriage/termination (beyond 4 weeks).
        • Dosage: Standard 300 mcg IM (deltoid); half-dose formulations (150-200 mcg) less common.
        • Quantification: Kleinhauer-Betke (KB) test to determine fetal red blood cell volume in maternal circulation; adjust dose if high volume.
        • Exception: Both parents Rh-negative, as offspring will be Rh-negative.
        • Time sensitivity: Most effective when administered within 72 hours of exposure.
      • Antibody Screening: Essential for early detection, initially always negative but may show weak positive if administered RhoD prophylaxis in the past 14 weeks, and for monitoring antibody production.
      • Severity: Primary isoimmunization rarely impacts current pregnancy; subsequent pregnancies are at highest risk, impacting fetal outcomes.
      • Clinical Symptoms: Recurrent miscarriage, abnormal fetal growth, immune hydrops (fluid buildup in fetal tissues).

    Inherited Anemias

    • Definition: Lab values for diagnosing anemia vary in pregnancy; lower hemoglobin levels are expected in the second trimester due to physiologic hemodilution.

    • Hemoglobin/Hematocrit: Standard serum tests reflecting iron levels. considered late indicators; Hereditary anemias often exist at lower baseline levels during pregnancy.

    • Heritable Anemias: Chronic conditions worsened by pregnancy's physiologic adaptations; often diagnosed in childhood, with some presenting later (pregnancy can be presenting factor).

    • Other factors Affecting Values: Long-term high altitude residence, cigarette smoking may elevate hemoglobin/hematocrit values. Race and ethnicity demonstrate variable hemoglobin levels. Capillary blood sampling can be less reliable. High values are not necessarily reassuring; may indicate poor blood volume expansion, possibly impacting fetal outcomes. Affected women at increased risk for poor perinatal outcomes, fetal growth restriction, and early pregnancy loss. High prevalence in certain ethnic groups.

    • Specific Disorders:

      • Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency:

        • Inheritance: X-linked, more common in males.
        • Protection: Potential protection against malaria; high prevalence in Mediterranean populations, Sephardic and Asian Jews, African subgroups.
        • Severity: Episodic; anemia triggered by certain drugs/foods (oxidative stressors) or infections; heterozygous women can show varying degrees of mild to severe symptoms.
        • Diagnoses: Avoid drugs that can cause induced hemolytic anemia; rule out other causes for anemia (e.g., iron deficiency, hemoglobinopathies) or symptomatic G6PD deficiency or other anemias with symptoms. Regular urine screens & cultures indicated.
        • Clinical Manifestations: Intermittent anemia, fatigue, dizziness, tachycardia, jaundice, hemoglobinuria. Increased risk of UTIs in pregnancy; requires regular monitoring. Avoid oxidant medications (e.g., sulfonamides, nitrofurantoin) for infections in G6PD deficient women.
        • Prenatal Care: Avoidance of triggering substances if known; consultation with physician suggested; partner screening in affected women, and notification to pediatric providers post-partum.

      • Spherocytosis:

        • Inheritance: Autosomal dominant, variable penetrance (predictability).
        • Mechanism: Genetic defect causing spherical, fragile red blood cells.
        • Triggers: Infection, trauma, or pregnancy can trigger hemolytic crisis.
        • Diagnosis: Family history, complete blood count abnormalities, osmotic fragility test.
        • Prenatal Care: Vigilant monitoring for hemolytic crises; folate supplementation recommended; genetic counseling helpful.

      • Elliptocytosis:

        • Inheritance: Autosomal dominant.
        • Mechanism: Genetic defect creating elongated red blood cells.
        • Severity: Generally mild; often undiagnosed.
        • Diagnosis: Family history, complete blood cell count abnormalities; peripheral blood smear or osmotic fragility test.
        • Prenatal Care: Baseline evaluation/q-trimester monitoring of red blood cell indices. Consultation and folate supplementation recommended.

      • Hemoglobinopathies (thalassemias and abnormal hemoglobin structure):

        • Mechanism: Result from abnormal hemoglobin variants. Some are benign; others cause severe pathology.
        • Inheritance: Autosomal recessive for thalassemia; various for hemoglobin types.
        • Alpha Thalassemia: Quantitative; affects alpha chain production; ranging from no symptoms to severe consequences dependent on the number affected genes. Severe types can cause stillbirth.
        • Beta Thalassemia: Quantitative; affects beta chain production; ranging from no symptoms to severe consequences; beta major leads to severe anemia, bone marrow expansion, and eventual death by early adulthood. Beta minor presents as mild anemia.
        • Diagnosis: Identifying a low serum/MCV; hemoglobin electrophoresis required; excluding iron deficiency anemia is crucial.
        • Prenatal Care: Routine antenatal fetal assessment; monitoring and preventing fetal growth restriction, oligohydramnios; prophylactic/regular iron and folate supplementation recommended, genetic counseling and prenatal genetic diagnosis available.
        • Severity: Severity depends on the affected genes' number (major or minor form) or the specific mutated hemoglobin (e.g., HbS).
        • Compound Inheritance: Possible with thalassemia and/or sickle cell trait; this can lead to more complex diagnoses and outcomes.
        • Sickle Cell Disease:
        • Inheritance: Autosomal recessive; high prevalence in African-American populations.
        • Mechanism: Abnormal hemoglobin (HbS) causing red blood cell sickling and occlusion.
        • Symptoms: Anemia, vaso-occlusive disease, increased risk of infections.
        • Prenatal Care: Increased risk for complications, including pre-eclampsia and UTIs; regular urine analysis and culture and sensitivity. Genetic counseling recommended.
        • Sickle Cell Crisis: Close observation of maternal-fetal status; IV fluids, oxygen, pain management. Ongoing fetal assessment;

      • Other Hemoglobin Variants: (e.g., HbC, HbE) usually milder than HbS; less concern during pregnancy, but still important to asses.

    Platelet and Clotting Disorders

    • Thrombocytopenia: Low platelet counts (<150,000/µL); usually requires a clinically diagnosed lower threshold. Bleeding risk increases when platelet counts reach <50,000/µL. Various causes, including pregnancy-related conditions, autoimmune disorders, and hypertension.

      • Prenatal implications: Affects mode of delivery & certain procedures; regional anesthetics might be contraindicated. Midwives (in consultation with physicians) manage uncomplicated cases.

    • Antiphospholipid Syndrome: Autoimmune; antibodies against phospholipids increase risk of blood clots and complications during pregnancy (recurrent miscarriage, fetal growth restriction, pre-eclampsia) and require management by consultations of physicians. Intrapartum care includes anticoagulant medicines (e.g., heparin, low molecular weight heparin) and low-dose aspirin; Fetal surveillance (monthly ultrasounds & twice-weekly fetal testing) indicated.

    • Thrombophilias: Inherited disorders causing increased risk of blood clots (e.g., factor V Leiden, protein C/S deficiencies).

      • Prenatal implication: Anticoagulant therapy usually reserved for complicated cases (multiple mutations, personal or family history of blood clots) & routine care is largely for those with uncomplicated conditions. Increased surveillance during later stages of pregnancy for those with elevated risk. Midwives can care for uncomplicated cases.

    • Thromboembolism: Venous blood clots (deep vein thrombosis [DVT], pulmonary embolism [PE]). Pregnancy increases risk; symptoms can be masked by common pregnancy discomforts, requiring specialist consultations for diagnoses.

    • Treatment: Anticoagulation, supportive therapy. Interdisciplinary approach often warranted.

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    Description

    This quiz covers essential aspects of hematologic disorders in pregnancy, with a focus on Red Blood Cell Isoimmunization (RHD). It includes topics such as risk factors, prevention, and necessary medical interventions for Rh-negative mothers. Prepare for questions related to maternal-fetal health and appropriate clinical practices.

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