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Home , Rh disease, Vitamin K deficiency

5/3/2013

Objectives

• List common blood disorders found in Newborn Blood newborns Disorders: Recognition • Recognize of common blood disorders in newborns and Management • Newborns who need additional Elizabeth Goetz MD MPH Assistant Professor of screening tests for blood disorders University of Wisconsin School of Medicine and Public Health

Review: Blood Blood Cell Production

www.wikipedia.com

Review: Hematopoiesis Newborn Normal Values

• Blood volume 80-100 ml/kg • Hemoglobin 16-18 g/L • Hematocrit 53-58% • MCV 98-108 • RDW – elevated • Nucleated RBCs 1-10/100 WBCs • Reticulocytes 3-7%, 1-3% • Platelets 150-350 • WBC – wide range of normal • 3,500/uL – 18,000/uL • Peaks 8-12 hours after delivery

www.wikipedia.com

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Peripheral Smear Physiologic of Infancy

• Macrocytic • Increase in blood oxygen content and tissue oxygen delivery normochromic RBCs down regulates red blood cell production. with nucleated RBCs • Hemoglobin decreases as aged red blood cells are removed from circulation • Macroovalocytes, • Hemoglobin reaches nadir of 9.5-11 g/100 mL at 6-12 weeks of stomatocytes, red life • Relative hypoxemia triggers release of erythropoietin and increased cell fragments red blood cell production • Large lymphocyte • Exaggerated in premature infants with abundant cytoplasm

Am J Clin Pathol April 2009 vol. 131 no. 4 560-573

Your office phone rings….. K Deficiency

• A family is calling you • required for the at the hospital gamma carboxylation of requesting clotting factors 2,7,9,10 • Newborns inherently circumcision. vitamin K deficient • 3 day old born at home • Poor placental transfer of • Baby is doing great, is Vitamin K breastfeeding well, and • Low concentration of seems to be very Vitamin K in breast milk healthy. (<5ug/L) • No vitamin K or • Lack of GI flora erythromycin eye • may ointment. lead to Vitamin K Deficient • Do you want to (VKDB) circumcise this baby?

Early VKDB Classical VKDB

• • First 24 hours of life First week of life • Physiologic deficiency • Caused by placental transfer of compounds that interfere with combined with lack of vitamin K metabolism vitamin K in breast milk • Anticonvulsants (carbamazepine, phenytoin, barbiturates) and poor feeding • • Without prophylactic Antibiotics (Cephalosporin) vitamin K incidence as high • Anti-TB medications (rifampin, isoniazid) as 1.5% • • Extremely rare with prophylaxis • Incidence low – only 5% of at risk births • Presentation: bleeding • Presentation: , umbilical stump bleeding, from GI tract, umbilical intracranial hemorrhage stump, circumcision site. • Intracranial bleeding infrequent but possible

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Late Onset VKDB Evaluation of Infant

• After 2 week up to 6 • In deciding whether to circumcise this baby you start with months history and physical exam • Inadequate Vitamin K in breast milk • Mom is not on any medications • Additional risk factors that • No signs of bleeding in baby reduce vitamin K intake • Laboratory evaluation and absorption • Liver or pancreatic disease • Prolonged PT (INR >3.5) • GI disorders • Normal fibrinogen • Ingestion of vitamin K • Normal platelet count agonists • Incidence 4.4-10.5/100,000 babies • Presentation: Intracranial bleeding

Counseling Parents Case Conclusion

• • Parents decide that they Prophylactic Vitamin K at birth reduces incidence of VKDB really want their baby • Single IM dose of 1 mg vitamin K prevents classic and late circumcised and are concerned about the lab VKDB findings indicating vitamin K • Concerns may include local trauma and higher cost deficiency. They wonder if it is too late to give the shot? • No significant link between vitamin K and childhood cancer • No. Vitamin K prophylaxis can • Oral dosing regimens prevent classic VKDB but have not been be given anytime. shown to decrease late VKDB • SQ injection if actively bleeding • IV Vitamin K can cause anaphylaxis if given too quickly • Baby is given 1mg of IM vitamin K. You circumcise the baby the next day in the nursery without complication.

Your pager goes off….

• You are asked to come look at a baby’s head. Mom is worried about the way her baby’s head looks! This baby is about 4 hours old and was born earlier that morning by NSVD to an otherwise healthy 28 year old G1P0-1 mom. Mom is O+, serologies are all negative. has been uncomplicated. Baby had great Apgar scores of 9 and 9, weighed 8 pounds, and is otherwise doing well.

Newborns.stanford.edu

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What is your next step?

• Forget about it! • Cone heads are a dime a dozen and lots of babies have red spots • Watch and wait.. • you aren’t really sure if there is anything here out of the ordinary and you don’t want to wake anyone up • Worry! • There is evidence of bruising and/or bleeding on this baby’s head and maybe these red spots are on a different part of the baby’s body… Would a CBC be a good idea?

Newborns.stanford.edu

Worry! Thrombocytopenia

• Evidence of bleeding • Platelets < 150 and bruising in • Presentation multiple sites… • Mucocutaneous • CBC returns with: bleeding • WBC = 20 • Bruising, Petechia • HGB = 16 • Internal hemorrhage • HCT = 48 • Platelet levels <30 • Platelets = 15 • Incidental finding • Of course you repeat • CBC performed for this lab… another reason • Same results • Platelet levels <50

Common Causes Approach to Thrombocytopenia

Congenital Thrombocytopenia • Infection • • • Sepsis, NEC, TORCH, parvovirus Wiskott-Aldrich Syndrome Trisomies • TAR Syndrome • Bernard-Soulier Syndrome • Asphyxia • CAMT • X-linked macrothrombocytopenia • DIC caused by tissue damage

• PIH and Preeclampsia Acquired Thrombocytopenia • Rarely severe, normalizes by 7-10 days Mucocutaneous Bleeding or Incidental finding • Hemangiomas Well infant Sick infant • Consumptive • Asphyxia • • Immune mediated thrombocytopenia Maternal ITP • Infections • • NAIT and ITP Hereditary NAIT • IUGR/SGA • Pre-eclampsia • Hemangioma

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NAIT Autoimmune Thrombocytopenia

• Maternal alloantibodies against paternal on infant’s • Maternal ITP platelets • 15-45% of infants will have thrombocytopenia • Mother has normal platelet counts • 5-15% of infants will have • Can occur in first pregnancy severe thrombocytopenia • Presents as severe isolated thrombocytopenia in a healthy full • Nadir occurs 2-4 days after term baby birth • Monitor infant platelets for • Petechia, GI tract hemorrhage, hematuria, hemoptysis first week of life • Intracranial hemorrhage in 15-25% of infants • Presents with petechia • Treat with washed and irradiated maternal platelets and IgG or no findings • Rarely requires treatment • IgG, steroids, transfusion

Evaluation of Baby Case Conclusion

• History • On reviewing maternal history, you discover that mom has • Clinical condition been followed during this pregnancy for ITP. Baby receives a • Family history dose of IgG and is followed clinically with resolution of thrombocytopenia and no further bleeding problems. • Age of onset • Abnormal physical findings • Lab Evaluation • CBC, peripheral smear, platelet count • Maternal platelet count

You get a call from the hospital History and Physical Exam lab…… • A baby in your care just • A lot of things can cause …. had a routine screening • Exclusive breastfeeding? level that came • Well appearing baby? back at 15! A critical lab • value in your hospital! Does baby have bruising or birth injury? • Family history of neonatal jaundice? • As you relay this • information to parents Risk for hemolysis? and organize the • Immune mediated hemolysis phototherapy • RBC membrane defects – spherocytosis or eliptocytosis treatments what are • G6PD deficiency some other things you may want to think about?

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Additional History Hemolytic Anemia

• Mom is a 28 year old first • Increased red blood time mother. She is healthy cell destruction and her pregnancy was • uncomplicated. Her blood Isoimmune: Rh and ABO type is O-. She received incompatibility Rhogam during pregnancy. • Maternal immune • No family history of red disease blood cell disorders • Acquired RBC disorders • Lab work for baby: • Infection: CMV, toxoplasmosis, sepsis • Baby is A+, direct positive • Hereditary RBC • Elevated reticulocyte count disorders • Normal hemoglobin and • Spherocytosis and hematocrit elliptocytosis • G6PD deficiency • Hemoglobinopathies: thallasemias

Rh Hemolytic Disease Spectrum of

• Rh - mom, Rh + baby • Mild hemolytic disease • + Coombs test • Exposure and • Little or no anemia sensitization of • Minimal hyperbilirubinemia • Risk for severe late anemia at 3- maternal immune 6 weeks of age system to D • Moderate hemolytic disease • • + coombs test Rare in first pregnancy • Moderate anemia • Placental transfer of • Hyperbilirubinemia requiring phototherapy/exchange maternal transfusion against D antigen on • Hepatosplenomegaly • Severe hemolytic disease fetal RBCs • Risk for , • Destruction of coated fetal RBCs

ABO Incompatibility Coombs Test

• Type O moms produce anti A and anti B IgG • IgG crosses • Does not require sensitization • Coombs test positive or negative • ABO incompatibility present in 12% of • Less than 1% of births will have significant hemolysis • Less severe than Rh disease because A and B antigens present on many tissues throughout body

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Treatment Non-Immune Acquired Hemolysis

• Important to monitor • Infection for jaundice after • CMV hospital discharge • Toxoplasmosis • Phototherapy • Syphilis • • Bacterial Sepsis • • Follow up Typically will also see hemoglobin at 2-3 thrombocytopenia weeks to evaluate for • Mechanism of anemia hemolysis unknown

Hereditary RBC Disorders Hereditary RBC Disorders

• Hereditary Spherocytosis • Glucose-6-Phosphate • 70-80% of cases autosomal Dehydrogenase Disorder dominant • X linked inheritance pattern • Mutations in RBC • Mediterranean, African and membrane cytoskeleton Chinese ancestry • RBCs become more • Provides protection against spherical Malaria • Episodic hemolysis and • Spherical RBCs entrapped in spleen and hemolyze anemia • Following exposure to • Hemolysis in half of oxidants (some medications affected infants and fava beans) and infection • Spherocytes common in • Diagnosis: coombs negative newborn and with ABO anemia incompatibility • Heinz bodies and red blood • cells with a bite out of them test family members on peripheral smear • wait until infant is 3 months old to diagnose

Case Conclusion A mother asks you…..

• Baby was diagnosed with ABO incompatibility. Received • Why does my baby phototherapy for first 4 days of life with resolution of look so red? hyperbilirubinemia and no anemia. • Full term LGA infant born vaginally to a 28 year old mother with gestational diabetes. Mother is healthy and pregnancy had no other complication. Baby has been doing well since delivery.

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Don’t all babies look red? Causes of

• Hemoglobin levels > 60-65% • Increased red blood cell production • Blood viscosity increases exponentially • • Impairs blood flow and oxygen delivery • Maternal diabetes • Most babies asymptomatic • Neonatal hyper or • Symptoms: hypothyroidism • Poor perfusion: plethora, cyanosis, lethargy, hypotonic, poor • Chromosomal feeding, tremors abnormalities: Tri 21 • Hypoglycemia • Erythrocyte • Hypocalcaemia transfusions • Delayed cord clamping • Hyperbilirubinemia • Maternofetal transfusion • Twin-twin transfusion

Delayed cord clamping Treatment of Polycythemia

• Benefits to infants include: • Reduce red blood cell • Increased blood volume mass without • Reduced need for transfusion • Decreased incidence of intracranial hemorrhage in preterm increasing infants intravascular volume • Lower frequency of anemia in term infants • Isovolumetric partial • Delaying cord clamping until 30-60 seconds after birth exchange transfusion • Optimal length of delay has not been established with normal saline • Clear evidence of benefit in preterm babies • No clear evidence of benefit in term infants • Risks: • Interference with resuscitation efforts • Polycythemia

ACOG Committee Opinion 543, 2012

Case Conclusion I got a call from my sister……

• Infant was found to have a hematocrit of 60% • My sister is about to • Continued to be asymptomatic have a baby boy. • Was observed clinically with a hematocrit checked 1 week Family history of Von later and found to have fallen into a lower range Willebrands Disease • No further concerns vWD • She is first person in our family to have a baby boy • She asked me if it is safe to circumcise him?

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Hereditary Hemorrhagic Hemophilia A and B Disorders • Hemophilia A and B • 1/5000 male births • Von Willebrand • X linked recessive trait Disease (vWD) • 20-30% spontaneous mutations • Types • Hemophilia A = Clotting Factor 8 deficiency • Hemophilia B = Clotting Factor 9 deficiency • Severity • Severe - <1% of normal levels • Most common to manifest in newborns • Moderate – 1-5% of normal levels • Mild - >5 - <40% of normal levels

Clinical Presentation Perinatal Management

• 40-70% diagnosed in • Vaginal or cesarean newborn period delivery • Majority present with • Avoid vacuum extraction bleeding • Minimize heel stick and • Intracranial hemorrhage venipuncture • Cephalohematoma • Give IM Vitamin K • Umbilical stump bleeding • Do not circumcise • Bleeding following • Consult hematology and venipuncture, heel prick neonatology or circumcision • • Diagnose by measuring Treat with purified or factor levels recombinant Factor 8 or Factor 9

vWD Thank You!

• Deficiency of von Willebrand Factor, required for platelet adhesion • Most common hereditary bleeding disorder • 1% of general population • Autosomal dominant, occasionally recessive • Rarely manifests in newborn period • Levels of vW Factor naturally elevated after birth • Rare reports if intracranial hemorrhage, thrombocytopenia and soft tissue bleeding • Newborn care should not be different: • References • Circumcision not contraindicated. • Avery’s Diseases of the Newborn 8 th Edition • Lange Neonatology 6 th Edition

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