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Teaching pediatric laboratory medicine to pathology residents

Article in Archives of Pathology & Laboratory Medicine · August 2006

DOI: 10.1043/1543-2165(2006)130[1031:TPLMTP]2.0.CO;2 · Source: PubMed

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 Teaching Pediatric Laboratory Medicine to
Pathology Residents
Theodore J. Pysher, MD; Philip R. Bach, PhD; Sharon M. Geaghan, MD; Marilyn S. Hamilton, MD, PhD; Michael Laposata,
MD, PhD; Gillian Lockitch, MBChB, MD, FRCPC; Carlo Brugnara, MD; Cheryl M. Coffin, MD; Marzia Pasquali, PhD;
Piero Rinaldo, MD, PhD; William L. Roberts, MD, PhD; Joe C. Rutledge, MD; Edward R. Ashwood, MD; Robert C. Blaylock,
MD; Joseph M. Campos, PhD; Barbara Goldsmith, PhD; Patricia M. Jones, PhD; Megan Lim, MD, PhD; A. Wayne Meikle, MD;
Sherrie L. Perkins, MD, PhD; Deborah A. Perry, MD; Cathy A. Petti, MD; Beverly B. Rogers, MD; Paul E. Steele, MD;
Ronald L. Weiss, MD, MBA; Gail Woods, MD

● Context.—Laboratory data are essential to the medical Data Sources.—Based on the experiences of 11 training
care of fetuses, infants, children, and adolescents. How- programs, we have compiled a comprehensive list of pe-
ever, the performance and interpretation of laboratory diatric topics in the areas of clinical chemistry, endocri-
tests on specimens from these patients, which may consti- nology, hematology, urinalysis, coagulation medicine,
tute a significant component of the workload in general transfusion medicine, immunology, microbiology and vi-
hospitals and integrated health care systems as well as spe- rology, biochemical genetics, cytogenetics and molecular
cialized perinatal or pediatric centers, present unique chal- diagnostics, point of care testing, and laboratory manage-
lenges to the clinical pathologist and the laboratory. There- ment. This report also includes recommendations for train-
fore, pathology residents should receive training in pedi- ing experiences and a list of key texts and other resources
atric laboratory medicine.
in pediatric laboratory medicine.
Objective.—Children’s Health Improvement through Lab-
oratory Diagnostics, a group of pathologists and laboratory Conclusions.—Clinical pathologists should be trained to
scientists with interest and expertise in pediatric laboratory meet the laboratory medicine needs of pediatric patients
medicine, convened a task force to develop a list of curric- and to assist the clinicians caring for these patients with
ulum topics, key resources, and training experiences in pe- the selection and interpretation of laboratory studies. This
diatric laboratory medicine for trainees in anatomic and clin- review helps program directors tailor their curricula to
ical pathology or straight clinical pathology residency pro- more effectively provide this training.
grams and in pediatric pathology fellowship programs. (Arch Pathol Lab Med. 2006;130:1031–1038)

T raining in pediatric laboratory medicine is an essential

component of residency training in clinical pathology.
Infants, children, and adolescents comprise just less than
one third of the population of the United States and ac-
count for nearly 150 million outpatient visits and more
than 2 million hospitalizations annually.1 Pediatric am-
bulatory care is largely provided by primary care physi-
cians or physician extenders,2 and much of the inpatient
Accepted for publication January 16, 2006. care, especially for newborns, and the emergency care of
From the Division of Pediatric Pathology, Department of Pathology, children is provided outside of children’s hospitals.3 As a
Primary Children’s Medical Center and University of Utah School of result, pediatric laboratory tests can be a significant com-
Medicine, Salt Lake City (Drs Pysher and Coffin); the Division of Pe-
diatric Pathology, Department of Pathology, Primary Children’s Medical
Center, Salt Lake City (Dr Bach); the Department of Pathology, Stanford Pediatrics, Pathology, and Microbiology/Tropical Medicine, Children’s
University Medical Center, Stanford, Calif (Dr Geaghan); the Depart- Hospital National Medical Center and George Washington University
ment of Pathology, Children’s Mercy Hospital, Kansas City, Mo (Dr Medical Center, Washington, DC (Dr Campos); the Department of Pa-
Hamilton); the Division of Laboratory Medicine, Department of Pa- thology, St Elizabeth’s Medical Center, Boston, Mass (Dr Goldsmith);
thology, Massachusetts General Hospital and Harvard Medical School, the Department of Pathology, Children’s Medical Center and University
Boston (Dr Laposata); the Department of Pathology and Laboratory of Texas Southwestern Medical School, Dallas (Dr Jones); the Depart-
Medicine, Children’s & Women’s Health Centre and the University of ment of Pathology, Children’s Hospital, Omaha, Neb (Dr Perry); the
British Columbia, Vancouver (Dr Lockitch); the Department of Labo- Department of Pathology, Children’s Medical Center Dallas, Dallas, Tex
ratory Medicine, Children’s Hospital Boston and Harvard Medical (Dr Rogers); the Department of Pathology and Laboratory Medicine,
School, Boston, Mass (Dr Brugnara); the Department of Pathology, Uni- Cincinnati Children’s Hospital Medical Center and University of Cin-
versity of Utah School of Medicine and ARUP Laboratories, Salt Lake cinnati, Cincinnati, Ohio (Dr Steele); and the Department of Pathology
City (Drs Pasquali, Roberts, Ashwood, Blaylock, Lim, Meikle, Perkins, and Laboratory Services, University of Arkansas for Medical Sciences,
Petti, and Weiss); the Division of Laboratory Genetics, Department of Little Rock (Dr Woods).
Laboratory Medicine and Pathology, Mayo Clinic College of Medicine The authors have no relevant financial interest in the products or
and Mayo Medical Laboratories, Rochester, Minn (Dr Rinaldo); the De- companies described in this article.
partment of Laboratories, Children’s Hospital and Regional Medical Reprints: Theodore J. Pysher, MD, Primary Children’s Medical Center,
Center and University of Washington School of Medicine, Seattle (Dr Department of Pathology, 100 N Medical Dr, Salt Lake City, UT 84113
Rutledge); the Department of Laboratory Medicine and Departments of (e-mail: [email protected]).

Arch Pathol Lab Med—Vol 130, July 2006 Pediatric Laboratory Medicine—Pysher et al 1031
Distribution of laboratory tests by patient age
for a 1-year period in a large regional health
care system with a single tertiary children’s
hospital and intensive care nurseries in 4
large general hospitals with busy obstetric
services. If the tests from the tertiary children’s
hospital are excluded, pediatric patients ac-
count for 11.5% of all tests in the system (A),
and if chemistry profiles, complete blood
counts (CBCs), and urinalyses (UAs) are elim-
inated from all age groups, the proportion of
pediatric testing rises to 12.6% (not shown).
If the tests from the tertiary children’s hospital
are included with all tests from other hospi-
tals, the proportion of pediatric tests for the
whole system is 19.5% (not shown), and this
rises to 21.3% of the total if chemistry pro-
files, CBCs, and UAs are eliminated from all
age groups (B).

ponent of the workload in general hospitals and integrat- publications defining critical topics, listing key resources,
ed health care systems (Figure). These tests are essential or describing training experiences for the complex area of
to the correct diagnosis of diseases, many of which are pediatric laboratory medicine. Therefore, the members of
unique to this age group or may first present in childhood, Children’s Health Improvement through Laboratory Di-
and to the monitoring of the response to therapy and pre- agnostics (CHILDx), a group of pathologists and labora-
diction of prognosis. However, the small size of the youn- tory scientists with interest and expertise in pediatric lab-
gest patients, the rapidity of physiologic changes in acute oratory medicine, convened a task force to develop a list
illnesses in infants and children, the effect of the maternal- of curriculum topics and to recommend training experi-
fetal relationship and of growth and development on the ences in pediatric laboratory medicine for trainees in com-
interpretation of results, and the broad spectrum of dis- bined anatomic and clinical pathology or clinical pathol-
eases diagnosed in the pediatric period present challenges ogy residency programs. It is hoped that this compilation
to the clinical laboratory. For these reasons, clinical pa- will also be useful to directors of pediatric pathology fel-
thologists should be trained to meet the laboratory med- lowship programs.
icine needs of pediatric patients and to assist the clinicians
caring for children with the selection and interpretation of CURRICULUM CONTENT AND DESIGN
laboratory studies. Concepts integral to pediatric laboratory medicine that
A proposal for curriculum reform in clinical pathology impact all laboratory medicine disciplines include (1) se-
residency training, the Graylyn Report, was put forward lection of methods that require minimal sample size, have
in 1995 by the Conjoint Task Force on Clinical Pathology a dynamic range that includes values seen in pediatric
Residency Training, a collaborative effort of the Academy health and disease, and are free from interference by sub-
of Clinical Laboratory Physicians and Scientists, the Amer- stances commonly present in pediatric specimens; (2) use
ican Society of Clinical Pathologists, the Association of Pa- of age, gender, and development appropriate reference
thology Chairs, and the College of American Pathologists.4 ranges; and (3) identification of resources for reference
Since that time, specific recommendations have been pub- and continuing education in pediatric aspects of each dis-
lished for training in transfusion medicine,5 molecular pa- cipline. More specific topics unique or especially impor-
thology,6 management,7 and informatics,8 but there are no tant to pediatric laboratory medicine in each of the major
1032 Arch Pathol Lab Med—Vol 130, July 2006 Pediatric Laboratory Medicine—Pysher et al
disciplines of laboratory medicine are listed in Table 1. ditions seen in ambulatory and inpatient pediatrics. The
Topics in maternal-fetal medicine are included in this list topics listed under ‘‘Microbiology and Virology’’ in Table
because the results of tests in this rapidly growing area 1 can be incorporated into the microbiology rotation, but
of clinical and laboratory medicine are essential to the care several task force members have found pediatric infectious
of fetuses and newborn infants. Many of these topics can disease specialists to be especially receptive to clinico-
be covered in the context of more general lectures or dis- pathologic correlative conferences or rounds, and program
cussions about the subject, and others can be grouped directors may want to explore this option. Resident pre-
around clinical scenarios. For example, the transfusion sentations on other aspects of laboratory medicine can be
needs of pediatric trauma patients might be covered in a integrated into pediatric ward rounds or existing surgical
general discussion of transfusion in trauma by inclusion pathology or morbidity and mortality conferences with
of the relationship of patient size to the potential compli- pediatric subspecialty groups. Residents should also be
cations of incompatible plasma and massive transfusion, afforded the opportunity to reinforce learning through
and a lecture on neonatal transfusion medicine could in- participation in research projects, which may be case re-
clude discussions of the fetal and neonatal immune re- ports or more extensive clinical correlative, method de-
sponse, hemolytic disease of the newborn, neonatal allo- velopment, or translational studies. Some residents may
immune thrombocytopenia, exchange transfusion, use of develop a stronger interest in 1 aspect of pediatric labo-
dedicated units for chronic transfusion of neonates, and ratory medicine, such as cytogenetics or biochemical ge-
the controversies regarding the cytomegalovirus status netics. These trainees should be encouraged to pursue this
and irradiation of cellular products for neonates. interest through elective laboratory or clinical rotations
Training in laboratory medicine necessarily uses a va- and additional consultative, administrative, and research
riety of teaching formats. A carefully crafted series of di- experiences. However, it is the opinion of the CHILDx task
rected readings and/or didactic lectures is necessary to force that residents who wish to pursue a career as a di-
cover the breadth and complexity of the field, but for op- rector of a specialized laboratory should complete a for-
timal learning, this must be supplemented by practical ex- mal fellowship in that discipline and receive appropriate
periences such as direct observation or performance of cer- board certification or other qualification.
tain procedures, case-focused rounds in the laboratory
and/or the clinical unit, on-call responsibility for clinical COMPETENCY IN PEDIATRIC CLINICAL PATHOLOGY
laboratory problems and consultations, and participation
in laboratory and interdepartmental quality improvement The Accreditation Commission for Graduate Medical
activities and conferences. Katzman et al9 have described Education has recently mandated that educational pro-
an interdisciplinary approach to the teaching of perinatal grams for all medical specialties include detailed perfor-
anatomic and clinical pathology in which faculty members mance measures to assess the trainee’s competency in 6
from pathology, pediatrics, and obstetrics-gynecology de- areas: patient care, medical knowledge, practice-based
partments instruct pathology residents. Subspecialist cli- learning and improvement, interpersonal and communi-
nicians or visiting lecturers may be used to teach specific cation skills, professionalism, and systems-based practice
topics in pediatric laboratory medicine, but the importance (www.acgme.org/outcome). The CHILDx task force con-
of role models—faculty actively engaged in the practice of sidered the process of graded responsibility described
laboratory medicine who interact with clinicians as well previously a means of achieving competency in these ar-
as laboratory professionals—cannot be overemphasized. eas. Performance as a consultant in pediatric laboratory
Similarly, graded responsibility, beginning with lectures medicine will develop competency in the areas of patient
or discussions and progressing to consultations and front- care, interpersonal and communication skills, profession-
line on-call responsibility, is essential to reinforce knowl- alism, and systems-based practice. In becoming an effec-
edge and develop professionalism. In this regard, the tive consultant, the trainee will necessarily develop skills
members of the task force drew a sharp distinction be- in acquiring medical knowledge and in practice-based
tween ‘‘shadowing’’ a mentor or clinician, or acting as an learning and improvement. Therefore, measurement of
observer on laboratory and clinical rounds, and actually competency in pediatric laboratory medicine could in-
being on the front line or ‘‘hot seat’’ for laboratory medi- clude both documented exposure to the topics listed in
cine consultations. Participating in a call rotation with re- Table 1 and formal assessment of the trainee’s skill in pro-
sponsibility for after-hours laboratory and clinical consul- viding laboratory and clinical consultation or teaching for
tations reinforces didactic lessons, and this experience can 1 or more of the these topics in the context of his or her
be even more effective if the pathology residents who have rotation through each of the disciplines of laboratory med-
been on call present interesting cases at a regular confer- icine. Specific pediatric laboratory medicine competencies
ence attended by other trainees and laboratory medicine in these areas could include the following:
faculty. If a teaching hospital that can offer these experi-
ences in pediatric laboratory medicine is not immediately Patient Care
available, consideration should be given to allowing train-
ees to complete a rotation off-site. 1. Gather essential and accurate information about pe-
Residents generally require 4 to 8 weeks of training to diatric patients, including prenatal history, gestational age
gain sufficient confidence to answer consultative ques- and size at birth, neonatal course, family and social his-
tions.10 Transfusion medicine and coagulation testing are tory, growth and development, treatments and immuni-
common topics for routine and after-hours consultations zations, and results of previous laboratory studies.
in pediatric as well as adult laboratory medicine,11 and 2. Make informed decisions about test selection and in-
exposure to these areas should occur early in the program terpretation in pediatric patients based on patient infor-
and be reinforced by actual consultative experiences. In- mation, age and development-appropriate reference rang-
fectious diseases constitute a large proportion of the con- es, relevant scientific evidence, and clinical judgment.
Arch Pathol Lab Med—Vol 130, July 2006 Pediatric Laboratory Medicine—Pysher et al 1033
 Table 1. Curriculum Topics in Pediatric Laboratory Table 1. Continued
Medicine*
32. Evaluation of marked elevation of alkaline phosphatase
Clinical Chemistry
Hematology/Urinalysis
1. Sources for age and gender appropriate reference intervals
33. Sources for age-appropriate reference intervals for periph-
2. Characteristics of an ideal chemistry analyzer for pediatric
eral blood, bone marrow, and cerebrospinal fluid (CSF)
specimens that minimizes both sample size and the need
34. Charactersitics of an ideal automated hematology analyzer
for sample splitting and optimizes turnaround time
for pediatric specimens
3. Screening strategies using serum markers in singleton and
35. Testing for fetal-maternal hemorrhage
multiple gestations
36. Use of quantitative nucleated red blood cell counts and
4. Antenatal assessment of fetal renal function and lung ma-
reticulocyte counts in infants and children
turity
5. Interpretation of perinatal laboratory tests of fetal well-being 37. Differentiation of transient erythroblastopenia from other
6. Effect of fetal hemoglobin on blood gas and oximetry and forms of red cell aplasia in childhood
factors that might affect the transition from fetal to adult 38. Appearance of the following conditions on cytocentrifuge
hemoglobin preparations from pediatric body fluid specimens:
7. The biochemistry, metabolism, and measurement of biliru- a. Acute lymphocytic leukemia
bin; and the interpretation of bilirubin results in the fetus, b. Remote CSF hemorrhage
neonate, and infant c. CSF shunt
8. Possible causes of elevated or depressed levels of common d. CNS tissue: neuroglia, choroid plexus, and ependymal
automated chemical tests in children cells
9. Performance and interpretation of tests for lead levels in e. Bone marrow contamination of CSF
children f. Chylothorax in a neonate
10. Performance and interpretation of tests for copper levels in 39. Appearance of the following disorders by examination of
children peripheral blood or bone marrow morphology:
11. Performance and interpretation of diagnostic tests for cystic a. Parvovirus infection
fibrosis with emphasis on their limitations b. Gaucher disease
12. The effect of age on drug metabolism and therapeutic drug c. Niemann-Pick disease
monitoring and antemortem and postmortem toxicologic d. Chediak-Higashi syndrome
tests (including meconium testing) that should be available e. Ceroid lipofuscinosis
from a clinical laboratory serving a pediatric population 40. Proper handling and distribution of bone marrow and tissue
13. Analytical considerations in digoxin monitoring in neonates specimens for suspected pediatric hematologic malignan-
14. Lipid screening in children cies and metastatic tumors
15. Approach to and limitations of the laboratory evaluation of 41. Accurate identification of the following disorders by ex-
nutritional status in children amination of microscopic slides and recognition of the
16. Monitoring parenteral nutrition therapy in children characteristic flow cytometric, cytogenetic, and/or molec-
17. Characteristic biochemical abnormalities in neuroblastoma ular genetic abnormalities of each:
and the reasons why neonatal screening for neuroblastoma a. Acute lymphoblastic leukemia and subtypes
is not recommended b. Acute myeloid leukemia and subtypes
18. Utility of and age-specific precautions for the following an- c. Transient myeloproliferative disorder
alytes in the diagnosis and monitoring of pediatric tumors: d. Juvenile myelomonocytic leukemia
a. Alpha-fetoprotein e. Chronic myelogenous leukemia
b. Human chorionic gonadotropin f. Malignant lymphoma—lymphoblastic, Burkitt, diffuse
c. Ferritin large B-cell, and anaplastic large cell
d. Lactate dehydrogenase g. Atypical lymphoid proliferations, including posttrans-
plantation lymphoproliferative disorder
Endocrinology
h. Histiocytic proliferations, including hemophagocytic syn-
19. Sources for age, gender, and development specific refer- dromes
ence intervals i. Metatastic tumor involving bone marrow
20. Characteristics of an ideal analyzer for pediatric endocri- 42. Differential diagnosis of and outline of a sequence of labo-
nologic tests and the impact of more sensitive methods, ratory testing for the following in an infant and in a child:
such as tandem mass spectrometry, on reference intervals a. Anemia
21. Diagnosis of neonatal hypothyroidism and understanding of b. Neutropenia
the necessity for expedited results c. Thrombocytopenia
22. The differential diagnosis and evaluation of neonatal hy- d. Marrow failure
poglycemia e. Lymphocytosis
23. The differential diagnosis and evaluation of neonatal hy- f. Lymphocytopenia
pocalcemia 43. Basis for use of immature neutrophil counts in the evalua-
24. Laboratory evaluation of the neonate with ambiguous gen- tion of sepsis in neonates
italia 44. Clinical presentation, molecular lesion, pathogenesis, di-
25. Laboratory evaluation of the infant with delayed growth agnosis, and treatment of the following conditions:
(‘‘failure to thrive’’) a. G6PD deficiency
26. Laboratory evaluation of the child with abnormally short or b. Pyruvate kinase deficiency
tall stature
c. Hereditary spherocytosis
27. Laboratory evaluation of the child with abnormally early or
d. Sickle cell disease
late sexual development
e. Thalassemia
28. Laboratory evaluation of the obese child
45. Utility of urinalysis in the evaluation of suspected urinary
29. Laboratory evaluation of the child with polyuria and de-
tract infection in children
hydration
46. Evaluation of proteinuria and hematuria, alone and in
30. Evaluation of a child with suspected hypo- or hyperthyroidism
combination, discovered on a routine urinalysis in a
31. Pathogenesis and evaluation of congenital adrenal hyper-
child
plasia, acute adrenal insufficiency, and Cushing syndrome
in children

1034 Arch Pathol Lab Med—Vol 130, July 2006 Pediatric Laboratory Medicine—Pysher et al
 Table 1. Continued Table 1. Continued
Coagulation 64. Characteristic serologic findings in the following:
47. Sources of reference ranges for coagulation tests in pre- a. Neonatal lupus syndrome
mature infants and neonates and the effect of high hemat- b. Juvenile rheumatoid arthritis
ocrit on coagulation tests c. Juvenile ankylosing spondylitis
48. Coagulation laboratory support for cardiovascular surgery d. Celiac disease
and extracorporeal membrane oxygenator (ECMO) therapy e. Inflammatory bowel disease
in infants f. Autoimmune hepatitis in childhood
49. Laboratory evaluation of a bleeding diathesis in a neonate g. Acute rheumatic fever
and an older child h. Mucocutaneous lymph node syndrome
50. Criteria for diagnosis of antiphospholipid syndrome in cases 65. Problems associated with the diagnosis of Epstein-Barr virus
infection in young children
of recurrent fetal loss or a neonatal thrombotic disorder
66. Laboratory evalution of the child with suspected allergy
51. Laboratory evaluation of suspected thrombophilia in a child
52. Expected results of screening tests (prothrombin time, acti- Microbiology
vated partial thromboplastin time, and platelet count and 67. Rationale and methods for prenatal and intrapartum testing
morphology) and recommendations for definitive tests to for the following:
make a diagnosis for the following: a. Human immunodeficiency virus
a. Disseminated intravascular coagulation in a low birth- b. Group B streptococcus
weight infant 68. Laboratory diagnosis of the following common infections in
b. Hemophilia A and B the fetus, infant, and child:
c. von Willebrand disease a. Cytomegalovirus
d. Other congenital factor deficiencies and qualitative b. Herpes simplex virus
platelet disorders c. Enteroviruses
53. Differential diagnosis of thrombocytopenia in the following: d. Respiratory viruses
a. A term neonate e. Hepatitis B
b. A healthy child f. Group A streptococcus
c. A hospitalized bone marrow transplant patient g. Pertussis
h. Human immunodeficiency virus
Transfusion Medicine 69. Collection fo nasopharyngeal aspirate and swab specimens
54. Pretransfusion testing and product selection in the following 70. Laboratory studies for infants adopted from developing
situations: countries
a. Intrauterine transfusion 71. Historical background and current limitations of TORCH
b. Newborn infant, including role of maternal antibodies serologies
c. Exchange transfusion for hemolytic disease of the new- 72. Proper testing and interpretation of microbiologic speci-
born mens from the following:
d. Neonatal alloimmune thrombocytopenia a. An NICU patient with suspected sepsis
e. Pediatric trauma b. A febrile infant 30–90 days of age
f. Pediatric cardiovascular surgery and ECMO therapy c. A patient with cystic fibrosis
g. Sickle cell disease 73. Principles of antimicrobial susceptibility testing with em-
h. Hemophilia phasis on agents that should and should not be used in
i. Idiopathic thrombocytopenic purpura children
j. Bone marrow transplant recipient
Biochemical Genetics
k. Solid organ transplant recipient
l. Items 54j and 54k in the case of ABO incompatible trans- 74. Principles of prenatal testing for genetic diseases
plants 75. Principles of neonatal screening, criteria for inclusion of
55. Laboratory evaluation of the following: diseases in newborn screening programs, federal and local
a. Hemolytic disease of the newborn guidelines for newborn screening, and diseases that are
b. Neonatal alloimmune thrombocytopenia screened for in different states
c. Isoimmune neonatal neutropenia 76. Procedure for collection of specimens for neonatal screening
56. Potential uses for and collection and storage of placental/ 77. Clinical presentation of metabolic diseases in the neonate
umbilical cord blood and older child
78. Tests most frequently used to diagnose the following cate-
57. Prevention of volume overload in pediatric transfusion ther-
gories of inborn errors of metabolism:
apy
a. Aminoacidopathies
58. Expected response to product therapy in children
b. Disorders of organic acid metabolism
59. Indications for and controversies surrounding use of the fol-
c. Urea cycle defects
lowing in pediatric transfusions:
d. Galactosemia
a. Sterile docking and issue of aliquots e. Hypothyroidism
b. Additive solutions for red blood cell storage f. Fatty acid oxidation defects
c. Leukoreduced products g. Glycogen storage diseases
d. Irradiated products h. Lysosomal storage diseases
e. Cytomegalovirus ‘‘safe’’ products i. Mitochondrial respiratory chain disorders
f. Autologous and directed products j. Purine and pyrimidine disorders
60. Major indications for, and limitations of therapeutic apher- k. Peroxisomal disorders
esis in children l. Porphyrias
Immunology m.Congenital disorders of glycosylation
61. Development of the immune response in the fetus and in- 79. Principles and clinical applications of tandem mass spec-
trometry and application of this technique to metabolic dis-
fant and placental transfer of maternal antibodies
eases that can be detected by amino acid and acylcarnitine
62. Sources for reference intervals for immunoglobulins and
profiling
lymphocyte populations in infants and children
80. Collection and preservation of postmortem specimens (in-
63. Outline of an initial set of tests for the infant or child with
cluding fibroblasts, bile, and vitreous humor) in cases of
suspected immunodeficiency suspected genetic metabolic disorders

Arch Pathol Lab Med—Vol 130, July 2006 Pediatric Laboratory Medicine—Pysher et al 1035
 Table 1. Continued Medical Knowledge
Cytogenetics and Molecular Genetics 1. Successfully complete a program of instruction in pe-
81. Indications, risks, and accuracy of chorionic villous sam- diatric laboratory medicine as defined by the program di-
pling, amniocentesis, and fetal blood sampling for antenatal rector.
diagnosis 2. Identify and use key text and electronic resources for
82. Indications for chromosome studies in the following situa- the selection and interpretation of laboratory tests in fe-
tions:
a. Spontaneous abortion
tuses, infants, children, and adolescents.
b. Stillbirth Practice-Based Learning and Improvement
c. Fetuses or infants with congenital malformations or am-
biguous genitalia 1. Use appropriate texts and information technology to
d. Children with mental retardation support clinical consultations and diagnostic decision
e. Pediatric tumor specimens making in pediatric laboratory medicine.
f. Pediatric hematologic malignancies
83. Current methods of testing for each of the following: 2. Understand the use and limitations in pediatric lab-
a. Monosomy X oratory medicine of clinical studies of test performance
b. Trisomy 13 conducted on an adult population.
c. Trisomy 18 3. Identify clinical and laboratory medicine consultants
d. Trisomy 21
e. Beckwith-Wiedemann syndrome
who can provide assistance with questions in pediatric
f. Prader-Willi and Angelman syndromes (15q11-q13) laboratory medicine.
g. DiGeorge (velocardiofacial) syndrome (22q11.2 dele-
tion) Interpersonal and Communication Skills
h. Williams-Beuren syndrome (7q11.2) 1. Communicate effectively with pediatric clinical col-
84. Principles and limitations of molecular diagnostic testing in leagues by demonstrating a knowledge of and sensitivity
the following:
a. Antenatal testing to pediatric laboratory testing needs to support patient-
b. Evaluation of mental retardation focused care.
c. Pediatric hematologic and solid tumors 2. Use listening skills to identify opportunities to im-
d. Congenital hearing loss prove laboratory medicine services to pediatric patients.
e. Thrombophilia
3. Communicate effectively with hospital and labora-
Point-of-Care Testing tory administrations to provide appropriate laboratory
85. Identification of opportunities for point-of-care testing (POCT) support for pediatric patients.
in both inpatient and outpatient settings in pediatrics 4. Participate in the teaching of pediatric laboratory
86. Factors to be considered in implementing POCT for pedi-
atric patients medicine to laboratory personnel, physician and nursing
staffs, and students and trainees.
Laboratory Management
87. Preanalytic and analytic factors that can be optimized to min- Professionalism
imize the volume of sample required for a laboratory test
88. Collection (including direct observation) of the following 1. Demonstrate respect, compassion, integrity, and re-
specimens from infants and children, including patient sponsiveness to the needs of pediatric patients, their par-
preparation, safety precautions, collection devices, and ents and guardians, and their primary health care provid-
possible sources of error: ers.
a. Capillary blood from a neonate
b. Venipuncture from preschool-aged child
2. Demonstrate a knowledge of and commitment to the
c. Sweat from an infant ethical principles pertaining to patient care and the con-
d. Nasopharyngeal aspirate from a child duct of clinical research in pediatric patients.
89. Processing pediatric specimens, including limitations and
possible sources of error Systems-Based Practice
90. Consideration of pediatric patient needs in the selection of
test methods and laboratory equipment (sample size, test
1. Partner with health care providers and managers to
menu to minimize sample splitting, dynamic range, inter- assess, coordinate, and improve pediatric health care.
ferences) 2. Demonstrate a sensitivity to pediatric laboratory test-
91. Selection of reference laboratories for pediatric testing ing requirements in deliberations regarding central versus
92. Resources for finding a laboratory that can perform a test point of care testing, on site versus reference lab testing,
not available in larger reference laboratories
93. Use of appropriate reference intervals when interpreting pe-
determination of reference ranges and critical values, and
diatric test results the selection of laboratory methods and equipment.
94. Timely and effective communication of pediatric laboratory
results, including selection of critical values COMMENT
95. Obstacles to the recommendation that each laboratory Pediatric laboratory medicine is an essential component
should determine its own reference intervals for the popu- of the clinical pathology training of pathology residents
lation it serves as it relates to pediatric tests and alternative
approaches for meeting this goal and must be included in accredited pediatric pathology
96. Ethical considerations regarding children as research subjects fellowship programs. As noted in the beginning of this
97. Effective communication with pediatric clinicians regarding article, a considerable proportion of pediatric and neonatal
test menus, report formats, and appropriate expectations for care is provided by primary care clinicians and/or takes
turn-around time
98. Effective communication with laboratory staff and hospital
place outside of specialized children’s hospitals. Therefore,
administration regarding laboratory service needs of pedi- pathologists serving facilities that do not provide highly
atric patients specialized pediatric care might be called on to provide
* CNS indicates central nervous system; G6PD, glucose 6-phosphate pediatric laboratory medicine consultations, and patholo-
dehydrogenase; TORCH, toxoplasmosis, other agents, rubella, cyto- gists in all hospitals caring for neonates and children need
megalovirus, herpes simplex; and NICU, neonatal intensive care unit. to consider the needs of these young patients not only
when establishing reference ranges but also when select-
1036 Arch Pathol Lab Med—Vol 130, July 2006 Pediatric Laboratory Medicine—Pysher et al
 Table 2. Key Resources in Pediatric Laboratory Medicine
General
Gilbert-Barness E, Barness LA. Clinical Use of Pediatric Diagnostic Tests. Philadelphia, Pa: Lippincott Williams & Wilkins; 2003.
Soldin SJ, Brugnara C, Wong EC. Pediatric Reference Intervals. 5th ed. Washington, DC: AACC Press; 2005.
Hicks JM, Young DS. DORA 2005–2007: Directory of Rare Analysis. Washington, DC: AACC Press; 2005.
Jones PM. Pediatric laboratory medicine. In: McKenna RW, Keffer JH, eds. Handbook of Clinical Pathology. 2nd ed. Chicago, Ill: Ammerican
Society of Clinical Pathologists; 2000:527–536.
Green A, Morgan I, Gray J. Neonatology and Laboratory Medicine. London, England: ACB Venture Publications; 2003.
Kaplan LA, Tange SM, eds. Guidelines for Evaluation and Management of the Newborn Infant: NACB Standards of Laboratory Practice. Washing-
ton, DC: National Academy of Clinical Biochemists; 1998.
Kost GJ, Critical limits for emergency clinician notification at United States children’s hospitals. Pediatrics. 1991;88:597–603.
National Committee for Clinical Laboratory Standards. Procedures and Devices for the Collection of Diagnostic Capillary Blood Specimens:
Approved Standard. 5th ed. NCCLS Document H4-A5. Wayne, Pa: National Committee for Clinical Laboratory Standards; 2004.
Coffin CM, Hamilton MS, Pysher TJ, et al. Pediatric laboratory medicine; current challenges and future opportunities. Am J Clin Pathol. 2002;
117:683–690.
http://www.childx.org/topics.htm (links to PubMed searches for pediatric laboratory medicine topics)
http://www.labtestonline.org/
Clinical Chemistry and Endocrinology
Soldin SJ, Rifai N, Hicks, JM. Biochemical Basis of Pediatric Disease. 3rd ed. Washington, DC: AACC Press; 1998.
National Cholesterol Education Program. Report of the expert panel on blood cholesterol levels in children and adolescents. Pediatrics. 1992;89:
525–583.
Pysher TJ, Bach PR. Peripheral brain: interpretation of routine chemistry tests in pediatrics. Pediatr Rev. 1996;17:357–369.
LeGrys VA. Assessment of sweat-testing practices for the diagnosis of cystic fibrosis. Arch Pathol Lab Med. 2001;125:1420–1424.
Stevenson DK, Wong RJ, Vreman HJ, et al. NICHD conference on kernicterus: research on prevention of bilirubin-induced brain injury and
kernicterus: bench-to-bedside—diagnostic methods and prevention and treatment strategies. J Perinatol. 2004;24:521–525.
http://www.aacc.org (American Association for Clinical Chemistry Web site)
http://www.cff.org (Cystic Fibrosis Foundation Web site)
Hematology/Urinalysis/Body Fluids
Nathan DG, Orkin SH, Ginsburg D, eds. Nathan and Oski’s Hematology of Infancy and Childhood. 6th ed. Philadephia, Pa: WB Saunders; 2003.
Penchansky L. Pediatric Bone Marrow. Berlin, Germany: Springer-Verlag; 2004.
Collins RD, Swerdlow SH. Pediatric Hematopathology. New York, NY: Churchill Livingstone; 2001.
Foucar K. Bone Marrow Pathology. Chicago, Ill: American Society of Clinical Pathologists; 2001.
Kjeldsberg C, Elenitoba-Johnson K, Foucar K, et al. Practical Diagnosis of Hematologic Disorders. 3rd ed. Chicago, Ill: American Society of
Clinical Pathologists; 2000.
Geaghan SM, ed. Diagnostic pediatric hematology. Clin Lab Med. 1999;19:1–37.
Geisinger K, Silverman J, Wakely P Jr. Pediatric Cytopathology. Chicago, Ill: American Society of Clinical Pathologists; 1994.
Coagulation
Andrew M, Paes B, Milner R, et al. Development of the human coagulation system in the full-term infant. Blood. 1987;70:165–172.
Andrew M, Vegh P, Johnston M, et al. Maturation of the hemostatic system during childhood. Blood. 1992;80:1998–2005.
Monagle P, Chan A, Massicotte P, Chalmers E, Michelson AD. Antithrombotic therapy in children: the seventh ACCP conference on antithrom-
botic and thrombolytic therapy. Chest. 2004;126:645S–687S.
Transfusion Medicine
Herman JH, Manno CS. Pediatric Transfusion Therapy. Bethesda, Md: AABB Press; 2003.
Hillyer CD, Strauss RG, Luban NLC. Handbook of Pediatric Transfusion Medicine. San Diego, Calif: Elsevier; 2004.
Judd WJ. Guidelines for Prenatal and Perinatal Immunohematology. Bethesda, Md: AABB Press; 2005.
Broxmeyer HE, Cord Blood: Biology, Immunology, Banking and Clinical Transplantation. Bethesda, Md: AABB Press; 2004.
Roseff SD. Pediatric Transfusion: A Physician’s Handbook. 1st ed. Bethesda, Md: AABB Press; 2003.
Pisciotto P. Pediatric Hemotherapy Data Card. Bethesda, Md: American Association of Blood Banks; 2002.
http://www.aabb.org (American Association of Blood Banks Web site)
http://www.bloodline.net/
Immunology
Stiehm ER, Ochs HD, Winklestein JA. Immunologic Disorders in Infants & Children. 5th ed. Philadelphia, Pa: Elsevier Saunders; 2004.
Microbiology
American Academy of Pediatrics. Pickering LK, ed. In: Red Book: 2003 Report of the Committee on Infectious Diseases. 26th ed. Elk Grove
Village, Ill: American Academy of Pediatrics; 2003.
Biochemical Genetics
Hommes FA. Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual. New York, NY: Wiley-Liss; 1991.
Nyhan WL, Ozand PT. Atlas of Metabolic Diseases. London, England: Chapman & Hall Medical; 1998.
Al-Essa MA, Ozand PT. Atlas of Common Lysosomal and Peroxisomal Disorders. Riyadh, Saudi Arabia: King Faisal Specialist Hospital and Re-
search Center; 1999.
Fernandes J, Saudubray JM, van der Berghe G. Inborn Metabolic Diseases: Diagnosis and Treatment. 3rd ed. Berlin, Germany: Springer; 2000.
Gilbert-Barness E, Barness LA. Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology. Natick, Mass: Eaton; 2000.
Scriver CR, Beaudet AL, Sly WS, et al. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001.
Clarke JTR. A Clinical Guide to Inherited Metabolic Disease. 2nd ed. Cambridge, England: Cambridge University Press; 2002.
Blau N, Duran M, Blaskovics ME, Gibson KM. Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd ed. Berlin, Germany:
Springer; 2003.
http://www.geneclinics.org/ (current reviews and listings of laboratories providing specialized testing)
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db⫽OMIM (online Mendelian Inheritance in Man)
http://genes-r-us.uthscsa.edu/
http://www.simd.org/
http://www.biochemgen.uscd.edu/
Point-of-Care Testing
Gill FN, Bennett MJ. The pediatric unit. In: Price CP, Hicks JM, eds. Point-of-Care Testing. Washington, DC: AACC Press; 1999:405–428.
Pysher TJ, Bach PR, Pedersen DH. Point of care testing in the children’s hospital. In Kost GJ, ed. Principles and Practice of Point-of-Care Testing.
Philadelphia, Pa: Lippincott Williams & Wilkins; 2002:301–310.

Arch Pathol Lab Med—Vol 130, July 2006 Pediatric Laboratory Medicine—Pysher et al 1037
ing laboratory equipment and analytical methods and force has prepared the list of topics in Table 1 and key
when determining which tests will be provided on an im- resources in Table 2, and the CHILDx Web site containing
mediate basis, which will be offered as point-of-care tests, preprogrammed literature searches and hot links to other
and which results will be defined as critical values. For sites that address specific areas of pediatric laboratory
example, rapid availability of results for hyperbilirubin- medicine.
emia and hypothyroidism are essential in determining the References
normal neurologic development of newborns, and rapid 1. Behrman RE. Overview of pediatrics. In: Behrman RE, Kliegman RM, Jenson HB,
diagnostic tests for viral and bacterial infections can great- eds. Nelson Textbook of Pediatrics. Philadelphia, Pa: WB Saunders; 2004:1–4.
2. Saltzman EJ, Starfield B. The health care delivery system. In: Hoekelman
ly facilitate the acute management of infants and children. RA, Adam HM, Nelson NM, Weitzman MH, eds. Primary Pediatric Care. St Louis,
Similarly, as Kost12 noted in the report of his survey of Mo: The CV Mosby Co; 2001:3–5.
critical values for emergency clinician notification in 39 3. Chen EH, Shofer FS, Baren JM. Emergency medicine resident rotation in
pediatric emergency medicine: what kind of experience are we providing? Acad
children’s hospital laboratories in the United States, the Emerg Med. 2004;11:771–773.
critical limits for many analytes are different in children 4. Graylyn Conference Report. Recommendations for reform of clinical pa-
and, especially, neonates. The relative infrequency with thology residency training: Conjoint Task Force of Clinical Pathology Residency
Training Writing Committee. Am J Clin Pathol. 1995;103:127–129.
which primary care physicians, emergency medicine phy- 5. Simon TL. Comprehensive curricular goals for teaching transfusion medi-
sicians, and hospitalists who care principally for adult pa- cine: Curriculum Committee of the Transfusion Medicine Academic Award
tients encounter pediatric diseases and the growing com- Group. Transfusion. 1989;29:438–446.
6. Goals and objectives for molecular pathology education in residency pro-
plexity of pediatric laboratory testing are likely explana- grams: The Association for Molecular Pathology Training and Education Commit-
tions for the published observations that these physicians tee. J Mol Diagn. 1999;1:5–15.
do not always know the best laboratory tests to diagnose 7. Horowitz RE, Naritoku W, Wagar EA. Management training for pathology
residents: a regional approach. Arch Pathol Lab Med. 2004;128:59–63.
or monitor pediatric diseases.3,13 Even though many lab- 8. Henricks WH, Boyer PJ, Harrison JH, Tuthill JM, Healy JC. Informatics train-
oratory tests on patients younger than 18 years are per- ing in pathology residency programs: proposed learning objectives and skill sets
formed in regional or national reference laboratories for the new millennium. Arch Pathol Lab Med. 2003;127:1009–1018.
9. Katzman PJ, Spitalnik SL, Metlay LA. Multidisciplinary pediatric pathology
(http://www.childx.org/survey㛮results.htm), the order- rotations in a residency training program. Pediatr Dev Pathol. 2003;6:233–239.
ing physician may ask the local pathologist to assist with 10. Kirby JE, Laposata M. The nature and extent of training activities in clinical
test selection and/or the interpretation of results. pathology required for effective consultation on laboratory test selection and in-
terpretation. Arch Pathol Lab Med. 1997;121:1163–1167.
The CHILDx group has previously identified current 11. Laposata M. What many of us are doing or should be doing in clinical
challenges and future opportunities in pediatric labora- pathology: a list of the activities of the pathologist in the clinical laboratory. Am
tory medicine14 and has convened symposia on several of J Clin Pathol. 1996;106:571–573.
12. Kost GJ. Critical limits for emergency clinician notification at United States
these issues (http://www.childx.org). A critical concern, children’s hospitals. Pediatrics. 1991;88:597–603.
however, is that pathologists outside of the highly spe- 13. D’Alessandro DM, Kreiter CD, Peterson MW, Kingsley P, Johnson-West J.
cialized pediatric centers in which we practice receive ap- An analysis of patient care questions asked by pediatricians at an academic med-
ical center. Ambul Pediatr. 2004;4:18–23.
propriate training and be aware of key resources in pe- 14. Coffin CM, Hamilton MS, Pysher TJ, et al. Pediatric laboratory medicine:
diatric laboratory medicine. To this end, the CHILDx task current challenges and future opportunities. Am J Clin Pathol. 2002;117:683–690.

1038 Arch Pathol Lab Med—Vol 130, July 2006 Pediatric Laboratory Medicine—Pysher et al

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