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What is a disorder with a genetic predisposition toward venous embolism which alters clotting factors?
What is a disorder with a genetic predisposition toward venous embolism which alters clotting factors?
Thrombophilia
What is a product of increased risk of a VTE in pregnancy?
What is a product of increased risk of a VTE in pregnancy?
Thromboembolism
For thromboembolisms, which is more common prenatally?
For thromboembolisms, which is more common prenatally?
For labor and delivery and postpartum patients, which thromboembolism is more common?
For labor and delivery and postpartum patients, which thromboembolism is more common?
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What is a disorder of platelet alteration, low platelet count?
What is a disorder of platelet alteration, low platelet count?
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What is the platelet count for thrombocytopenia?
What is the platelet count for thrombocytopenia?
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What platelet count for thrombocytopenia results in disordered bleeding?
What platelet count for thrombocytopenia results in disordered bleeding?
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What is a disorder of abnormal antibody production leading to thrombotic events?
What is a disorder of abnormal antibody production leading to thrombotic events?
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What is the clinical presentation for antiphospholipid syndrome?
What is the clinical presentation for antiphospholipid syndrome?
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What will be implemented in the management of antiphospholipid syndrome in pregnancy?
What will be implemented in the management of antiphospholipid syndrome in pregnancy?
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For inherited thrombophilias, when should fetal surveillance begin?
For inherited thrombophilias, when should fetal surveillance begin?
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For hemoglobin and hematocrit, what high values likely indicate poor volume expansion and are associated with poor outcomes?
For hemoglobin and hematocrit, what high values likely indicate poor volume expansion and are associated with poor outcomes?
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What is extremely high hemoglobin or hematocrit associated with for the fetus?
What is extremely high hemoglobin or hematocrit associated with for the fetus?
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What are the consequences of anemia in pregnancy?
What are the consequences of anemia in pregnancy?
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What type of anemia results from an RBC enzyme defect/deficiency which is episodic - induced by drugs, infections, surgery?
What type of anemia results from an RBC enzyme defect/deficiency which is episodic - induced by drugs, infections, surgery?
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What is the hereditary pattern for glucose 6 phosphate deficiency?
What is the hereditary pattern for glucose 6 phosphate deficiency?
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What drugs can induce glucose 6 phosphate deficiency?
What drugs can induce glucose 6 phosphate deficiency?
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What type of anemia results from genetic based, structural defects in erythrocyte membranes causing RBC to be spherical in shape?
What type of anemia results from genetic based, structural defects in erythrocyte membranes causing RBC to be spherical in shape?
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What is the inheritance pattern for hereditary spherocytosis?
What is the inheritance pattern for hereditary spherocytosis?
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What makes hereditary spherocytosis different from glucose 6 phosphate deficiency?
What makes hereditary spherocytosis different from glucose 6 phosphate deficiency?
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What type of anemia is a result from a genetic based, defect in the polarization of hemoglobin molecules making RBC contract, the axis becomes rod shaped?
What type of anemia is a result from a genetic based, defect in the polarization of hemoglobin molecules making RBC contract, the axis becomes rod shaped?
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What is the inheritance pattern for hereditary elliptocytosis?
What is the inheritance pattern for hereditary elliptocytosis?
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What is more common in G6PD and how often should screening occur?
What is more common in G6PD and how often should screening occur?
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What is the management for G6PD?
What is the management for G6PD?
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What is the clinical presentation for hereditary spherocytosis?
What is the clinical presentation for hereditary spherocytosis?
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What diagnosis is used in hereditary spherocytosis aside from family history?
What diagnosis is used in hereditary spherocytosis aside from family history?
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What is the management of prenatal care for hereditary spherocytosis?
What is the management of prenatal care for hereditary spherocytosis?
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What is the clinical presentation for hereditary elliptocytosis?
What is the clinical presentation for hereditary elliptocytosis?
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What diagnostics are used for hereditary elliptocytosis aside from family history?
What diagnostics are used for hereditary elliptocytosis aside from family history?
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What type of hemoglobinopathy is hereditable but does not always result in pathology, normal hemoglobin synthesis occurs at a slower rate?
What type of hemoglobinopathy is hereditable but does not always result in pathology, normal hemoglobin synthesis occurs at a slower rate?
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What type of hemoglobinopathy is hereditable but does not always result in pathology, genetic alteration affects amino acid content in the hemoglobin molecule?
What type of hemoglobinopathy is hereditable but does not always result in pathology, genetic alteration affects amino acid content in the hemoglobin molecule?
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What hemoglobin variants are present in the embryo?
What hemoglobin variants are present in the embryo?
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What hemoglobin variants are present in the fetal period?
What hemoglobin variants are present in the fetal period?
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What is there a disordered synthesis of in the hemoglobin molecule for thalassemia syndromes?
What is there a disordered synthesis of in the hemoglobin molecule for thalassemia syndromes?
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What thalassemia results in the fetus being severely affected (hydrops or stillbirth), and females are typically sterile?
What thalassemia results in the fetus being severely affected (hydrops or stillbirth), and females are typically sterile?
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What thalassemia results in minimal to moderate hypochromic microcytic anemia in pregnancy, the fetus should be monitored for hydrops?
What thalassemia results in minimal to moderate hypochromic microcytic anemia in pregnancy, the fetus should be monitored for hydrops?
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What thalassemia results in a healthy neonate who declines after 6 months, females are typically sterile?
What thalassemia results in a healthy neonate who declines after 6 months, females are typically sterile?
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What thalassemia is the most common in NM practice, typically maternal and fetal outcomes are satisfactory?
What thalassemia is the most common in NM practice, typically maternal and fetal outcomes are satisfactory?
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What beta thalassemia syndrome results in severe disease, fractures and bone distortion + hepto/splenomegaly?
What beta thalassemia syndrome results in severe disease, fractures and bone distortion + hepto/splenomegaly?
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What beta thalassemia syndrome has severity dependent on beta chain production, may be asymptomatic?
What beta thalassemia syndrome has severity dependent on beta chain production, may be asymptomatic?
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What will be seen for Hb, MCV and iron supplementation in Beta thalassemia minor?
What will be seen for Hb, MCV and iron supplementation in Beta thalassemia minor?
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What are general principles for management of thalassemia syndromes in pregnancy?
What are general principles for management of thalassemia syndromes in pregnancy?
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What is the most common presentation for thalassemia disorders in pregnancy?
What is the most common presentation for thalassemia disorders in pregnancy?
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What is there an increased risk for with sickle cell disease in pregnancy?
What is there an increased risk for with sickle cell disease in pregnancy?
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What are symptoms of sickle cell disease?
What are symptoms of sickle cell disease?
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What supplementation is needed for individuals with sickle cell disease in pregnancy?
What supplementation is needed for individuals with sickle cell disease in pregnancy?
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What is there an increased risk for amongst individuals with sickle cell trait in pregnancy?
What is there an increased risk for amongst individuals with sickle cell trait in pregnancy?
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What determines an individuals genetic hemoglobin make up and helps too identify hemoglobinopathies?
What determines an individuals genetic hemoglobin make up and helps too identify hemoglobinopathies?
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What is the clinical implication for the RBC antibody "duffy" in pregnancy?
What is the clinical implication for the RBC antibody "duffy" in pregnancy?
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What is the clinical implication of the RBC antibody "Rh(c)" in pregnancy?
What is the clinical implication of the RBC antibody "Rh(c)" in pregnancy?
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Flashcards
thrombophilia
thrombophilia
A disorder with a genetic predisposition toward venous embolism altering clotting factors.
thromboembolism
thromboembolism
A condition that increases the risk of VTE during pregnancy.
DVT
DVT
Deep vein thrombosis, more common during pregnancy.
PE
PE
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thrombocytopenia
thrombocytopenia
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< 150000
< 150000
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< 50000
< 50000
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antiphospholipid syndrome
antiphospholipid syndrome
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clinical presentation for antiphospholipid syndrome
clinical presentation for antiphospholipid syndrome
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management of antiphospholipid syndrome in pregnancy
management of antiphospholipid syndrome in pregnancy
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36 weeks
36 weeks
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hemoglobin > 15
hemoglobin > 15
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IUGR
IUGR
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consequences of anemia in pregnancy
consequences of anemia in pregnancy
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glucose 6 phosphate deficiency
glucose 6 phosphate deficiency
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x linked (more common in males)
x linked (more common in males)
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drugs inducing glucose 6 phosphate deficiency
drugs inducing glucose 6 phosphate deficiency
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hereditary spherocytosis
hereditary spherocytosis
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autosomal dominant (variable penetrance)
autosomal dominant (variable penetrance)
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not dependent on provoking agent/exposure
not dependent on provoking agent/exposure
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hereditary elliptocytosis
hereditary elliptocytosis
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2nd and 3rd trimester antenatal fetal assessment
2nd and 3rd trimester antenatal fetal assessment
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low serum hgb, low MCV
low serum hgb, low MCV
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PTL and IUGR (fetal inheritance = concern)
PTL and IUGR (fetal inheritance = concern)
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hemolysis, vascular occlusion
hemolysis, vascular occlusion
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hemoglobin electrophoresis
hemoglobin electrophoresis
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clinical implication of the RBC antibody 'duffy'
clinical implication of the RBC antibody 'duffy'
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clinical implication of the RBC antibody 'kell'
clinical implication of the RBC antibody 'kell'
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clinical implication of the RBC antibody 'lewis'
clinical implication of the RBC antibody 'lewis'
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clinical implication of the RBC antibody 'Rh(c)'
clinical implication of the RBC antibody 'Rh(c)'
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Study Notes
Hematologic Disorders in Pregnancy
- Thrombophilia: A genetic predisposition to venous thromboembolism (VTE), altering clotting factors.
- Thromboembolism: Increased risk of VTE in pregnancy. DVT is more common prenatally, while PE is more common for patients during and postpartum.
- Thrombocytopenia: A disorder of platelet alteration, characterized by a low platelet count.
- Platelet count < 150,000/µL indicates thrombocytopenia.
- Platelet count < 50,000/µL results in disordered bleeding.
- Antiphospholipid Syndrome: A disorder of abnormal antibody production, leading to thrombotic events.
- Clinical presentation includes recurrent pregnancy loss, severe/early-onset preeclampsia, abnormal fetal growth without explanation, and unexplained clot formation.
- Management includes monthly fetal growth ultrasounds, twice-weekly testing at term, and low-molecular-weight heparin (LMWH), heparin, and low-dose aspirin.
- Inherited Thrombophilias: Fetal surveillance should begin at 36 weeks.
- High Hemoglobin/Hematocrit: Values of >15 (hemoglobin) and >45% (hematocrit) are associated with poor volume expansion and poor outcomes. This can lead to IUGR in the fetus.
- Consequences of Anemia: Anemia in pregnancy can lead to fetal growth restriction (IUGR), pregnancy loss, maternal death, and increased preterm birth.
- Glucose-6-Phosphate Deficiency (G6PD): Anemia caused by an RBC enzyme defect. It's episodic and induced by drugs, infections, or surgery.
- Primarily X-linked, more common in males.
- Drugs that can induce G6PD include sulfonamides, nitrofurantoins, antipyretics, analgesics, and antimalarial compounds.
- Hereditary Spherocytosis: Genetic defects in erythrocyte membranes cause spherical RBCs.
- Autosomal dominant with variable penetrance.
- Unlike G6PD, hereditary spherocytosis is not dependent on a provoking agent or exposure.
- Clinical presentation includes acute hemolytic crises (often precipitated by infection, trauma, or pregnancy). Diagnosis can be made through hyperproliferative anemia (CBC changes, reticulocytes), and osmotic fragility testing.
- Management in pregnancy includes monitoring hemolytic crises and folate supplementation.
- Hereditary Elliptocytosis: Genetic defect in hemoglobin polarization, causing elongated RBCs.
- Autosomal dominant inheritance.
- Clinical presentation is a mild hemolytic state, similar to spherocytosis.
- Diagnosis includes hyperproliferative anemia (CBC and blood smear changes) and osmotic fragility testing.
- Thalassemia Syndromes: Heritable disorders with quantitative changes in hemoglobin production.
- Embryonic: Hb Gower I, Hb Gower II
- Fetal: Hb Portland, HbF
- Adult: HbA1, HbA2, HbF
- Disordered synthesis of alpha or beta peptide chains occurs.
- Alpha-thalassemia: Major is severe (hydrops, stillbirth), Minor is mild to moderate hypochromic microcytic anemia; monitor fetus for hydrops.
- Beta-thalassemia: Major is severe, Minor is typically manageable during pregnancy. Homozygous beta-thalassemia major (Cooley's anemia) is severe; heterozygous beta-thalassemia minor is variable in severity. Characteristics for beta-thalassemia minor include hemoglobin levels of 8-10, low MCV (<80%), and non-response to iron supplementation.
- Management in pregnancy includes antenatal fetal assessment, IUGR and oligohydramnios monitoring, and prophylactic iron and folate. Common presentation involves low serum hemoglobin and low MCV.
- Sickle Cell Disease: Increased risk of pregnancy loss (PL) and IUGR due to hemolysis, vascular occlusion, and increased infection susceptibility. Manage with folic acid supplementation.
- Sickle Cell Trait: Increased risk of asymptomatic bacteriuria, urinary tract infection (UTI), and pyelonephritis.
- Hemoglobin Electrophoresis: Determines the genetic make-up to identify hemoglobinopathies.
- RBC Antibody Implications: Certain RBC antibodies, like Duffy, Kell, Lewis, and Rh(c), can have implications (deadly hemolytic anemias with some).
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Description
This quiz focuses on the various hematologic disorders that can complicate pregnancy, including thrombophilia, thromboembolism, and thrombocytopenia. It also covers the implications of antiphospholipid syndrome and management strategies. Test your knowledge on these critical topics affecting maternal and fetal health.
