Glenn E Palomaki

Summary

Affiliation: Women and Infants Hospital
Country: USA

Publications

  1. doi request reprint DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
    Glenn E Palomaki
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Genet Med 13:913-20. 2011
  2. doi request reprint Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review
    Glenn E Palomaki
    Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 15:600-11. 2013
  3. doi request reprint Screening for down syndrome in the United States: results of surveys in 2011 and 2012
    Glenn E Palomaki
    Department of Pathology, Division of Medical Screening and Special Testing, Women and Infants Hospital and the Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Arch Pathol Lab Med 137:921-6. 2013
  4. doi request reprint Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey
    Glenn E Palomaki
    Department of Pathology and Laboratory Medicine, Women and Infants Hospital and The Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 14:69-75. 2012
  5. ncbi request reprint Estimating first-trimester combined screening performance for Down syndrome in dried blood spots versus fresh sera
    Glenn E Palomaki
    Women and Infants Hospital Brown University, Providence, Rhode Island 02903, USA
    Genet Med 9:458-63. 2007
  6. ncbi request reprint Comparing three screening strategies for combining first- and second-trimester Down syndrome markers
    Glenn E Palomaki
    Division of Medical Screening, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Providence, RI 02903, USA
    Obstet Gynecol 107:367-75. 2006
  7. doi request reprint Quality assessment of routine nuchal translucency measurements: a North American laboratory perspective
    Glenn E Palomaki
    Women and Infants Hospital Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Genet Med 10:131-8. 2008
  8. doi request reprint Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies--a targeted evidence-based review
    Glenn E Palomaki
    Women and Infants Hospital Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 12:772-84. 2010
  9. doi request reprint Four years' experience with an interlaboratory comparison program involving first-trimester markers of Down syndrome
    Glenn E Palomaki
    Department of Pathology and Laboratory Medicine, Brown University, Providence, RI02903, USA
    Arch Pathol Lab Med 134:1685-91. 2010
  10. doi request reprint Association between 9p21 genomic markers and heart disease: a meta-analysis
    Glenn E Palomaki
    Women and Infants Hospital Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    JAMA 303:648-56. 2010

Collaborators

Detail Information

Publications88

  1. doi request reprint DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
    Glenn E Palomaki
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Genet Med 13:913-20. 2011
    ..Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement...
  2. doi request reprint Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review
    Glenn E Palomaki
    Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 15:600-11. 2013
    ..Clinical utility evidence was inadequate. In addition to analytic validity and clinical utility knowledge gaps, additional gaps were identified regarding how to inform, produce, and evaluate models combining multiple variants...
  3. doi request reprint Screening for down syndrome in the United States: results of surveys in 2011 and 2012
    Glenn E Palomaki
    Department of Pathology, Division of Medical Screening and Special Testing, Women and Infants Hospital and the Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Arch Pathol Lab Med 137:921-6. 2013
    ..Participants in a College of American Pathologists external proficiency testing program for first and second trimester Down syndrome screening...
  4. doi request reprint Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey
    Glenn E Palomaki
    Department of Pathology and Laboratory Medicine, Women and Infants Hospital and The Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 14:69-75. 2012
    ..MetHODS: External proficiency testing survey results for Huntington disease were extracted (2003-2010). Analytic interpretations and CAG repeat lengths were compared with published performance criteria...
  5. ncbi request reprint Estimating first-trimester combined screening performance for Down syndrome in dried blood spots versus fresh sera
    Glenn E Palomaki
    Women and Infants Hospital Brown University, Providence, Rhode Island 02903, USA
    Genet Med 9:458-63. 2007
    ..The study purpose was to examine the consequences of using dried blood spots rather than fresh sera in first-trimester Down syndrome screening...
  6. ncbi request reprint Comparing three screening strategies for combining first- and second-trimester Down syndrome markers
    Glenn E Palomaki
    Division of Medical Screening, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Providence, RI 02903, USA
    Obstet Gynecol 107:367-75. 2006
    ..To describe the choices and tradeoffs inherent in 3 published strategies that combine first- and second-trimester markers for Down syndrome screening...
  7. doi request reprint Quality assessment of routine nuchal translucency measurements: a North American laboratory perspective
    Glenn E Palomaki
    Women and Infants Hospital Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Genet Med 10:131-8. 2008
    ..To assess nuchal translucency measurements that were performed as part of routine prenatal screening for Down syndrome...
  8. doi request reprint Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies--a targeted evidence-based review
    Glenn E Palomaki
    Women and Infants Hospital Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 12:772-84. 2010
    ..g., reduction in rates of myocardial infarction and stroke) and whether these profiles help in making medical or personal decisions...
  9. doi request reprint Four years' experience with an interlaboratory comparison program involving first-trimester markers of Down syndrome
    Glenn E Palomaki
    Department of Pathology and Laboratory Medicine, Brown University, Providence, RI02903, USA
    Arch Pathol Lab Med 134:1685-91. 2010
    ..Objectives.-To evaluate the first 4 years of the interlaboratory comparison program against stated goals, to identify areas of concern, and to create new initiatives as indicated...
  10. doi request reprint Association between 9p21 genomic markers and heart disease: a meta-analysis
    Glenn E Palomaki
    Women and Infants Hospital Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    JAMA 303:648-56. 2010
    ..If testing improves risk assessments using traditional factors, it may provide opportunities to improve public health...
  11. pmc Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based review
    Glenn E Palomaki
    Women and Infants Hospital Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 11:21-34. 2009
    ....
  12. ncbi request reprint Hyperglycosylated-hCG (h-hCG) and Down syndrome screening in the first and second trimesters of pregnancy
    Glenn E Palomaki
    Women and Infants Hospital Brown University Providence, Rhode Island 02903, USA
    Prenat Diagn 27:808-13. 2007
    ..To validate Down syndrome screening protocols that include hyperglycosylated-hCG (h-hCG) measurements...
  13. doi request reprint Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements
    Glenn E Palomaki
    From the 1Women and Infants Hospital and Albert Medical School of Brown University, 101 Dudley Street, Providence, RI 02905, USA
    Genet Med 11:669-81. 2009
    ..Laboratories can use their professional judgment to make modification or additions...
  14. ncbi request reprint Repeated measurement of pregnancy-associated plasma protein-A (PAPP-A) in Down syndrome screening: a validation study
    Glenn E Palomaki
    Women and Infants Hospital, Providence, Rhode Island 02903, USA
    Prenat Diagn 26:730-9. 2006
    ..To confirm that measuring pregnancy-associated plasma protein-A (PAPP-A) in both first- and second-trimester serum samples improves Down syndrome screening...
  15. pmc Variability in thyroid-stimulating hormone suppression by human chorionic [corrected] gonadotropin during early pregnancy
    James E Haddow
    The Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    J Clin Endocrinol Metab 93:3341-7. 2008
    ..The objective of the study was to further explore relationships between human chorionic gonadotropin (hCG), TSH, and free T4 in pregnant women at 11 through 18 wk gestation...
  16. pmc First- and second-trimester thyroid hormone reference data in pregnant women: a FaSTER (First- and Second-Trimester Evaluation of Risk for aneuploidy) Research Consortium study
    Geralyn Lambert-Messerlian
    Warren Alpert Medical School of Brown University, Providence, RI, USA
    Am J Obstet Gynecol 199:62.e1-6. 2008
    ..The purpose of this study was to calculate first and second trimester reference ranges and within-woman correlations for TSH, free T4, and thyroid antibodies...
  17. ncbi request reprint Comparison of serum markers in first-trimester down syndrome screening
    Jacob A Canick
    Women and Infants Hospital and Brown Medical School, Providence, Rhode Island, USA
    Obstet Gynecol 108:1192-9. 2006
    ....
  18. doi request reprint DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
    Glenn E Palomaki
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 14:296-305. 2012
    ..To determine whether maternal plasma cell-free DNA sequencing can effectively identify trisomy 18 and 13...
  19. doi request reprint The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
    Jacob A Canick
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital and Alpert Medical School of Brown University, Providence, RI 02903, USA
    Prenat Diagn 33:667-74. 2013
    ..By understanding these aspects of the role of fetal fraction in maternal plasma DNA testing for aneuploidy, we can better appreciate the power and the limitations of this impressive new methodology...
  20. doi request reprint Feasibility of using plasma rather than serum in first and second trimester multiple marker Down's syndrome screening
    Geralyn M Lambert-Messerlian
    Women and Infants Hospital, 70 Elm Street, 2nd Floor, Providence, RI 02903, USA
    J Med Screen 19:164-70. 2012
    ..To compare maternal plasma with serum for measuring markers currently used in first and second trimester screening for Down's syndrome...
  21. doi request reprint Thyroperoxidase and thyroglobulin antibodies in early pregnancy and preterm delivery
    James E Haddow
    Women and Infants Hospital and Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Obstet Gynecol 116:58-62. 2010
    ..To further evaluate the relationship between thyroid antibodies and preterm births...
  22. doi request reprint DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations
    Jacob A Canick
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, RI, USA
    Prenat Diagn 32:730-4. 2012
    ..If MPSS testing is offered clinically, it is important to know if these trisomies will also be identified in multiple pregnancies...
  23. doi request reprint Sequential first- and second-trimester TSH, free thyroxine, and thyroid antibody measurements in women with known hypothyroidism: a FaSTER trial study
    Monica R McClain
    Warren Alpert Medical School, Brown University, Providence, RI 02903, USA
    Am J Obstet Gynecol 199:129.e1-6. 2008
    ..The purpose of this study was to examine how closely hypothyroidism management in the general pregnancy population satisfies recently issued guidelines and to determine whether improvements are indicated...
  24. pmc Impact of adjusting for the reciprocal relationship between maternal weight and free thyroxine during early pregnancy
    James E Haddow
    Division of Medical Screening and Special Testing, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Thyroid 23:225-30. 2013
    ..5th centile were associated with a 17 lb higher weight (2.9 kg/m(2)) than in the overall study population. We explore this relationship further...
  25. doi request reprint Adjustment of serum markers in first trimester screening
    Geralyn Lambert-Messerlian
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, 70 Elm Street, Providence, RI 02903 USA
    J Med Screen 16:102-3. 2009
    ..First trimester total hCG levels were significantly increased in twins (median = 1.87 MoM), mildly increased in pregnancies achieved by in vitro fertilization (1.04 MoM) and decreased in smokers (0.80 MoM)...
  26. doi request reprint Impact of smoking on maternal serum markers and prenatal screening in the first and second trimesters
    Jing Zhang
    Department of Pathology and Laboratory Medicine, Women and Infants Hospital and Alpert Medical School of Brown University, Providence, RI 02903, USA
    Prenat Diagn 31:583-8. 2011
    ....
  27. doi request reprint Early onset preeclampsia and second trimester serum markers
    Geralyn M Lambert-Messerlian
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, RI, USA
    Prenat Diagn 29:1109-17. 2009
    ..To examine serum markers measured in the second trimester to identify women who subsequently develop preeclampsia...
  28. doi request reprint Thyroperoxidase and thyroglobulin antibodies in early pregnancy and placental abruption
    James E Haddow
    Division of Medical Screening and Special Testing, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
    Obstet Gynecol 117:287-92. 2011
    ..To estimate the relationship between thyroid antibodies and placental abruption...
  29. ncbi request reprint Stability of first- and second-trimester serum markers after storage and shipment
    Geralyn M Lambert-Messerlian
    Department of Pathology and Laboratory Medicine, Brown University and Women and Infants Hospital, Providence, Rhode Island 02903, USA
    Prenat Diagn 26:17-21. 2006
    ..The purpose of this study was to examine the levels of first- and second-trimester maternal serum markers used in Down syndrome screening in relation to the time between sample collection and arrival at the laboratory...
  30. doi request reprint Adjustment of maternal serum alpha-fetoprotein levels in women with pregestational diabetes
    Nicole Sprawka
    Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Warren Alpert Medical School of Brown University, Women and Infants Hospital, Providence, RI 02905, USA
    Prenat Diagn 31:282-5. 2011
    ..The aim of this study is to determine if MSAFP levels in pregnant women with diabetes managed on oral antidiabetic agents is lower than non-diabetic controls and require adjustment similar to those on insulin...
  31. doi request reprint The relationship between PTH and 25-hydroxy vitamin D early in pregnancy
    James E Haddow
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital Alpert Medical School of Brown University, Providence, RI, USA
    Clin Endocrinol (Oxf) 75:309-14. 2011
    ..Measure serum PTH and 25(OH)D in a cross-sectional sample of pregnant women at 11th through 13th weeks' gestation to examine vitamin D status and consider implications...
  32. doi request reprint A rapid-ACCE review of CYP2C9 and VKORC1 alleles testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding
    Monica R McClain
    Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Warren Alpert School of Medicine of Brown University, Providence, Rhode Island 02903, USA
    Genet Med 10:89-98. 2008
    ..Summarize evidence regarding genetic testing in adults to inform warfarin dosing to reduce adverse drug events such as serious bleeding...
  33. ncbi request reprint A summary analysis of Down syndrome markers in the late first trimester
    Glenn E Palomaki
    Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Brown University, Providence, Rhode Island, USA
    Adv Clin Chem 43:177-210. 2007
    ..When both free beta and DIA, or total hCG and DIA are combined with maternal age, NT and PAPP-A, weighted summary detection rates are 85% and 83%, respectively...
  34. ncbi request reprint Integrated serum screening for Down syndrome in primary obstetric practice
    George J Knight
    Foundation for Blood Research, Scarborough, Maine, USA
    Prenat Diagn 25:1162-7. 2005
    ..We report results of an intervention trial of integrated serum screening that involved 229 primary prenatal care practitioners throughout Maine...
  35. doi request reprint Screen positive rates among six family history screening protocols for breast/ovarian cancer in four cohorts of women
    Monica R McClain
    Department of Pathology, Women and Infants Hospital Brown University, 70 Elm Street, 2nd Floor, Providence, Rhode Island 02903, USA
    Fam Cancer 7:341-5. 2008
    ..9% to 4.0%. Used alone, none of the recommended family history protocols yields an acceptable screen positive rate. A more acceptable 2% to 4% screen positive rate can be expected when all six protocols agree...
  36. ncbi request reprint Health outcomes categorized by current and previous definitions of acute myocardial infarction in an unselected cohort of troponin-naïve emergency department patients
    Peter A Kavsak
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada, and Department of Pathology, Women and Infants Hospital of Rhode Island, Providence, USA
    Clin Chem 52:2028-35. 2006
    ..The health outcomes were based on the WHO definition and occurred in an era that preceded the use of cardiac troponin biomarkers...
  37. doi request reprint Examination of the pregnancy-associated plasma protein-A assay on the Beckman Coulter Access(®) platform: suitability for use in first trimester Down's syndrome screening
    Geralyn Lambert-Messerlian
    Department of Pathology and Laboratory Medicine, Division of Medical Screening and Special Testing, Women and Infants Hospital, 70 Elm St, Suite 2, Providence, RI 02903, USA
    J Med Screen 17:109-13. 2010
    ..To explore the clinical validity of the new Access(®) pregnancy-associated plasma protein-A (PAPP-A) assay for Down's syndrome screening...
  38. doi request reprint Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy
    Elaine Lyon
    Department of Pathology, University of Utah School of Medicine, Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah, USA
    Genet Med 14:990-1000. 2012
    ..It is designed to be a guideline for clinical laboratory professionals in performing tests and interpreting results with respect to CYP2D6 genetic variants...
  39. doi request reprint Comparative effectiveness review: prostate cancer antigen 3 testing for the diagnosis and management of prostate cancer
    Linda A Bradley
    Department of Pathology and Laboratory Medicine, Women and Infants Hospital Alpert Medical School of Brown University, Providence, Rhode Island, USA
    J Urol 190:389-98. 2013
    ..We compared the effectiveness of PCA3 (prostate cancer antigen 3) and select comparators for improving initial or repeat biopsy decision making in men at risk for prostate cancer, or treatment choices in men with prostate cancer...
  40. doi request reprint Can Factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes?: Results from a targeted evidence-based review
    Linda A Bradley
    Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital of Rhode Island, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA
    Genet Med 14:39-50. 2012
    ..The certainty of evidence is moderate (high, moderate, and low) that anticoagulation of women with recurrent pregnancy loss and F5/F2 variants would currently lead to net harms...
  41. ncbi request reprint Urine iodine measurements, creatinine adjustment, and thyroid deficiency in an adult United States population
    James E Haddow
    Division of Medical Screening, Women and Infants Hospital, 70 Elm Street, 2nd Floor, Providence, Rhode Island 02903, USA
    J Clin Endocrinol Metab 92:1019-22. 2007
    ..S. adults with the aim of determining whether low urine iodine is associated with thyroid deficiency...
  42. ncbi request reprint Thyroid-stimulating hormone in singleton and twin pregnancy: importance of gestational age-specific reference ranges
    James E Haddow
    Obstet Gynecol 107:205-6; author reply 206. 2006
  43. ncbi request reprint Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS)
    Wendy Y Craig
    Foundation for Blood Research, Scarborough, ME, UK
    Prenat Diagn 27:409-14. 2007
    ..Determine the relationship between positive screening interpretations for Smith-Lemli-Opitz syndrome (SLOS) and other fetal abnormalities, to aid counseling and diagnostic activities...
  44. ncbi request reprint Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians
    Glenn E Palomaki
    Foundation for Blood Research, Scarborough, Maine 04074 0190, USA
    Genet Med 4:90-4. 2002
    ....
  45. ncbi request reprint Patient and health professional acceptance of integrated serum screening for Down syndrome
    Glenn E Palomaki
    Department of Biometry, Foundation for Blood Research, Scarborough, ME, USA
    Semin Perinatol 29:247-51. 2005
    ..Women receiving prenatal care at the primary care level are prepared to wait until the second trimester for more accurate Down syndrome risk estimates on which to base their decision-making...
  46. ncbi request reprint Maternal serum invasive trophoblast antigen and first-trimester Down syndrome screening
    Glenn E Palomaki
    Foundation for Blood Research, Scarborough, ME, USA
    Clin Chem 51:1499-504. 2005
    ..The current report describes a case-control study of serum invasive trophoblast antigen (ITA) and its possible inclusion in first-trimester screening for Down syndrome...
  47. ncbi request reprint Technical standards and guidelines: prenatal screening for open neural tube defects
    Linda A Bradley
    Clinigene Laboratories, Hauppauge, New York, USA
    Genet Med 7:355-69. 2005
  48. ncbi request reprint Technical standards and guidelines: prenatal screening for Down syndrome
    Glenn E Palomaki
    Foundation for Blood Research, Scarborough, Maine, USA
    Genet Med 7:344-54. 2005
  49. ncbi request reprint Maternal serum invasive trophoblast antigen (hyperglycosylated hCG) as a screening marker for Down syndrome during the second trimester
    Glenn E Palomaki
    Foundation for Blood Research, Scarborough, ME 04070 00190, USA
    Clin Chem 50:1804-8. 2004
    ..This study aims at better defining the screening performance of serum ITA in the second trimester...
  50. ncbi request reprint Is first trimester measurement of sex hormone binding globulin a possible screening test for gestational diabetes mellitus
    Monica R McClain
    Am J Obstet Gynecol 190:1808-9;author reply 1809. 2004
  51. ncbi request reprint Second-trimester maternal serum invasive trophoblast antigen: a marker for Down syndrome screening
    Raj Pandian
    Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA
    Clin Chem 50:1433-5. 2004
  52. ncbi request reprint Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) in second-trimester maternal urine as a marker for down syndrome: preliminary results of an observational study on fresh samples
    Glenn E Palomaki
    Foundation for Blood Research, PO Box 190, Scarborough, ME 04070 0190, USA
    Clin Chem 50:182-9. 2004
    ..We report preliminary results for urinary ITA in an ongoing observational study...
  53. ncbi request reprint Maternal serum-integrated screening for trisomy 18 using both first- and second-trimester markers
    Glenn E Palomaki
    Foundation for Blood Research, PO Box 190, Scarborough, Maine 04070 0190, USA
    Prenat Diagn 23:243-7. 2003
    ..To estimate the prenatal screening performance of an integrated serum test for detecting trisomy 18, which combines measurements of first- and second-trimester markers with maternal age to assign patient-specific risks...
  54. ncbi request reprint Evaluation of cell-free fetal DNA as a second-trimester maternal serum marker of Down syndrome pregnancy
    Antonio Farina
    Department of Obstetrics and Gynecology, University of Bologna, Bologna, Italy 40138
    Clin Chem 49:239-42. 2003
    ..In this study we evaluated the potential performance of fetal DNA as a screening marker for Down syndrome...
  55. ncbi request reprint Standards and guidelines for CFTR mutation testing
    Carolyn Sue Richards
    Molecular Subcommittee of the Laboratory Quality Assurance Committee, American College of Medical Genetics, 9650 Rockville Pike, Bethesda, MD 20914 3998, USA
    Genet Med 4:379-91. 2002
    ..We take the view that these technologies will change, and thus this document will change with future review...
  56. ncbi request reprint Circulating angiogenic proteins in trisomy 13
    Yuval Bdolah
    Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
    Am J Obstet Gynecol 194:239-45. 2006
    ..This may then contribute to the increased risk of preeclampsia that has been observed in these patients. Our objective was to characterize the maternal circulating angiogenic proteins in trisomy 13 pregnancies...
  57. ncbi request reprint Analytic validity of cystic fibrosis testing: a preliminary estimate
    Glenn E Palomaki
    Foundation for Blood Research, Scarborough, Maine 04070 0190, USA
    Genet Med 5:15-20. 2003
    ..Derive estimates of analytic sensitivity and specificity of DNA testing for cystic fibrosis in the United States...
  58. ncbi request reprint Screening for thyroid disorders during pregnancy: results of a survey in Maine
    James E Haddow
    Foundation for Blood Research, Scarborough, ME, USA
    Am J Obstet Gynecol 194:471-4. 2006
    ..Our survey sought to determine the: 1) extent of screening in Maine; 2) factors associated with screening; and 3) laboratory cut-off levels used...
  59. ncbi request reprint Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome
    Wendy Y Craig
    Foundation for Blood Research, Scarborough, ME, USA
    Prenat Diagn 26:842-9. 2006
    ..We examine the feasibility of identifying SLOS as a part of a routine prenatal screening and evaluate diagnostic testing in maternal urine (or serum), in addition to amniotic fluid...
  60. ncbi request reprint Reference distributions for alpha2-macroglobulin: a practical, simple and clinically relevant approach in a large cohort
    Robert F Ritchie
    Foundation for Blood Research, Scarborough, Maine, USA
    J Clin Lab Anal 18:139-47. 2004
    ..When patient data are normalized in this manner, the distribution parameters can be used to assign a centile corresponding to an individual's measurement thus simplifying interpretation...
  61. ncbi request reprint Reference distributions for complement proteins C3 and C4: a comparison of a large cohort to the world's literature
    Robert F Ritchie
    Foundation for Blood Research, Scarborough, Maine 04074, USA
    J Clin Lab Anal 18:9-13. 2004
    ..This meta-analysis provides support for our reference ranges and places them in the context of previous publications...
  62. ncbi request reprint Reference distributions for complement proteins C3 and C4: a practical, simple and clinically relevant approach in a large cohort
    Robert F Ritchie
    Foundation for Blood Research, Scarborough, Maine 04074, USA
    J Clin Lab Anal 18:1-8. 2004
    ..When patient data are normalized in this manner, the distribution parameters can be used to assign a centile corresponding to an individual's measurement, thus simplifying interpretation...
  63. ncbi request reprint Elevated C-reactive protein in acute coronary syndrome presentation is an independent predictor of long-term mortality and heart failure
    Peter A Kavsak
    Department of Pathology and Molecular Medicine, McMaster University, 1200 Main St W, HSC 2N52, Hamilton, ON, Canada L8N 3Z5
    Clin Biochem 40:326-9. 2007
    ..To assess the ability of C-reactive protein (CRP) to predict long-term outcomes in a chest pain population...
  64. ncbi request reprint Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing
    Glenn E Palomaki
    Foundation for Blood Research, Scarborough, Maine 04070 0190, USA
    Genet Med 5:440-3. 2003
    ..The purpose of this study was to estimate analytic sensitivity and specificity of HFE testing for C282Y homozygosity in the hypothetical setting of population screening for hemochromatosis...
  65. ncbi request reprint Epidemiologic monitoring of prenatal screening for neural tube defects and Down syndrome
    George J Knight
    Prenatal Screening Laboratory, Foundation for Blood Research, Post Office Box 190, Scarborough, ME 04070, USA
    Clin Lab Med 23:531-51, xi. 2003
    ..Epidemiologic monitoring also provides useful information for physicians, public health authorities, and regulatory bodies...
  66. ncbi request reprint Assessing the requirement for the 6-hour interval between specimens in the American Heart Association Classification of Myocardial Infarction in Epidemiology and Clinical Research Studies
    Andrew R MacRae
    The Research Institute at Lakeridge Health, Oshawa, ON, Canada
    Clin Chem 52:812-8. 2006
    ..We determined AMI prevalence, using protocols with shorter intervals between measurements, with and without incorporating the time from onset of symptoms...
  67. ncbi request reprint Effects of contemporary troponin assay sensitivity on the utility of the early markers myoglobin and CKMB isoforms in evaluating patients with possible acute myocardial infarction
    Peter A Kavsak
    Department of Pathology and Molecular Medicine, McMaster University Medical Centre, 1200 Main St W, HSC 2N52, Hamilton, ON, Canada L8N 3Z5
    Clin Chim Acta 380:213-6. 2007
    ....
  68. ncbi request reprint Thyroid-stimulating-hormone concentrations and risk of hypothyroidism
    James E Haddow
    Lancet 360:2081-2; author reply 2082. 2002
  69. ncbi request reprint Reference distributions for apolipoproteins AI and B and the apolipoprotein B/AI ratios: a practical and clinically relevant approach in a large cohort
    Robert F Ritchie
    Foundation for Blood Research, Scarborough, Maine
    J Clin Lab Anal 20:209-17. 2006
    ....
  70. ncbi request reprint Reference distributions for serum iron and transferrin saturation: a comparison of a large cohort to the world's literature
    Robert F Ritchie
    Foundation for Blood Research, Scarborough, Maine 04070 0190, USA
    J Clin Lab Anal 16:246-52. 2002
    ..Our 95% reference ranges are somewhat broader than those of the smaller studies, but they agree well with those of the larger ones...
  71. ncbi request reprint Reference distributions for serum iron and transferrin saturation: a practical, simple, and clinically relevant approach in a large cohort
    Robert F Ritchie
    Foundation for Blood Research, Scarborough, Maine 04070 0190, USA
    J Clin Lab Anal 16:237-45. 2002
    ..After normalization, the Gaussian parameters can be used to assign a corresponding centile to an individual's measurement, simplifying interpretation. These data provide new and more detailed reference ranges for serum iron and TSAT...
  72. ncbi request reprint Reference distributions for alpha2-macroglobulin: a comparison of a large cohort to the world's literature
    Robert F Ritchie
    Foundation for Blood Research, Scarborough, Maine, USA
    J Clin Lab Anal 18:148-52. 2004
    ..This meta-analysis provides support for our reference ranges and places them in the perspective of previous publications...
  73. pmc Vascular versus myocardial dysfunction in acute coronary syndrome: are the adhesion molecules as powerful as NT-proBNP for long-term risk stratification?
    Peter A Kavsak
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada
    Clin Biochem 41:436-9. 2008
    ..To determine if elevations of adhesion molecules in acute coronary syndrome (ACS) are useful for risk stratification...
  74. ncbi request reprint Authors' response to Apple editorial
    Peter A Kavsak
    Clin Chim Acta 380:245-6. 2007
  75. pmc "Upstream markers" provide for early identification of patients at high risk for myocardial necrosis and adverse outcomes
    Peter A Kavsak
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada
    Clin Chim Acta 387:133-8. 2008
    ..We determined if a panel of biomarkers can be used to identify high risk patients...
  76. ncbi request reprint Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories
    Elaine B Spector
    Factor V Leiden Working Group, University of Colorado School of Medicine, CO, USA
    Genet Med 7:444-53. 2005
    ..It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines...
  77. pmc Is a pattern of increasing biomarker concentrations important for long-term risk stratification in acute coronary syndrome patients presenting early after the onset of symptoms?
    Peter A Kavsak
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Clin Chem 54:747-51. 2008
    ..It is unknown whether a rising pattern presages a more adverse long-term prognosis than elevations that do not change. The present study assessed whether a rising pattern of cardiac biomarkers was more prognostic than simple elevations...
  78. ncbi request reprint Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)
    Cedric H L Shackleton
    Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
    Am J Med Genet A 143:2129-36. 2007
    ..Urine testing performance prior to 14 weeks gestation appears promising, but reference data are sparse...
  79. ncbi request reprint Screen-positive rates and agreement among six family history screening protocols for breast/ovarian cancer in a population-based cohort of 21- to 55-year-old women
    Glenn E Palomaki
    Foundation for Blood Research, Scarborough, ME, USA
    Genet Med 8:161-8. 2006
    ..Professional and governmental groups recommend using family history protocols as an initial step in identifying women and families for mutation testing. We assess screen-positive rates and levels of agreement between these protocols...
  80. ncbi request reprint Comparison of fresh frozen serum to proficiency testing material in College of American Pathologists surveys: alpha-fetoprotein, carcinoembryonic antigen, human chorionic gonadotropin, and prostate-specific antigen
    William E Schreiber
    Department of Pathology, Vancouver General Hospital, Vancouver, British Columbia, Canada
    Arch Pathol Lab Med 129:331-7. 2005
    ..We hypothesized that matrix effects would be reduced by using fresh frozen serum (FFS)...
  81. ncbi request reprint A comparison of human chorionic gonadotropin- related components in fresh frozen serum with the proficiency testing material used by the College of American Pathologists
    George J Knight
    Foundation for Blood Research, Scarborough, ME 04074, USA
    Arch Pathol Lab Med 129:328-30. 2005
    ..The goal is to gain insight into the possible source(s) of bias attributable to the proficiency testing material (PTM) with a view toward creating more appropriate survey materials...
  82. ncbi request reprint How reliable are BRCA1/2 mutation estimates?
    Monica R McClain
    Cancer Res 67:5057; author reply 5057-8. 2007
  83. ncbi request reprint Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications
    Monica R McClain
    Foundation for Blood Research, Scarborough, Maine, USA
    Genet Med 7:28-33. 2005
    ..Assuring reliability of information about these mutations is increasingly important to the health care community; mutation testing is becoming more widespread. We describe a methodology for assessing such information...
  84. ncbi request reprint Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population
    Glenn E Palomaki
    Foundation for Blood Research, Scarborough, Maine, USA
    Genet Med 6:405-14. 2004
    ..To estimate CFTR mutation frequencies, clinical sensitivities (proportions of carrier couples or affected fetuses detected), and birth prevalence estimates for broad racial/ethnic groups and for a panethnic U.S. population...
  85. pmc Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
    Michael S Watson
    ACMG Cystic Fibrosis Carrier Screening Work Group, American College of Medical Genetics, Bethesda, Maryland 20814, USA
    Genet Med 6:387-91. 2004
  86. ncbi request reprint Prenatal screening for cystic fibrosis: an early report card
    Glenn E Palomaki
    Genet Med 6:115-6. 2004
  87. ncbi request reprint An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish women
    Monica R McClain
    Foundation for Blood Research, Scarborough, Maine, USA
    Genet Med 7:34-9. 2005
    ..Reported estimates of the magnitude of this risk vary widely. We describe an integrated approach for assessing the plausibility of these estimates...
  88. ncbi request reprint Reference distributions for apolipoproteins AI and B and B/AI ratios: comparison of a large cohort to the world's literature
    Robert F Ritchie
    Foundation for Blood Research, Scarborough, Maine
    J Clin Lab Anal 20:218-26. 2006
    ..This meta-analysis provides support and reassurance that many of the smaller reference intervals published previously fall within reasonable limits of out large population...