Lorenzo D Botto

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint Occurrence of omphalocele in relation to maternal multivitamin use: a population-based study
    Lorenzo D Botto
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Pediatrics 109:904-8. 2002
  2. doi request reprint Congenital heart defects after maternal fever
    Lorenzo D Botto
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT Electronic address
    Am J Obstet Gynecol 210:359.e1-359.e11. 2014
  3. pmc Cancer risk in children and adolescents with birth defects: a population-based cohort study
    Lorenzo D Botto
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    PLoS ONE 8:e69077. 2013
  4. pmc Fostering international collaboration in birth defects research and prevention: a perspective from the International Clearinghouse for Birth Defects Surveillance and Research
    Lorenzo D Botto
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 N Medical Drive, Salt Lake City, UT 84132, USA
    Am J Public Health 96:774-80. 2006
  5. doi request reprint Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research
    Lorenzo D Botto
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, USA
    Am J Med Genet C Semin Med Genet 157:262-73. 2011
  6. doi request reprint Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health School of Medicine, Salt Lake City, USA
    Am J Med Genet C Semin Med Genet 157:333-43. 2011
  7. doi request reprint Maternal nutrition and gastroschisis: findings from the National Birth Defects Prevention Study
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, USA
    Am J Obstet Gynecol 204:404.e1-404.e10. 2011
  8. pmc Nutritional factors and hypospadias risks
    Suzan L Carmichael
    Department of Pediatrics, Stanford University, Stanford, CA 94305 5415, USA
    Paediatr Perinat Epidemiol 26:353-60. 2012
  9. pmc Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005
    Sonali S Patel
    Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, USA
    Am J Med Genet A 158:2447-55. 2012
  10. pmc Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    BMJ 336:1420-3. 2008

Detail Information

Publications41

  1. ncbi request reprint Occurrence of omphalocele in relation to maternal multivitamin use: a population-based study
    Lorenzo D Botto
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Pediatrics 109:904-8. 2002
    ..Omphalocele can occur in certain multiple congenital anomaly patterns with neural tube defects, for which a protective effect of multivitamins with folic acid has been demonstrated...
  2. doi request reprint Congenital heart defects after maternal fever
    Lorenzo D Botto
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT Electronic address
    Am J Obstet Gynecol 210:359.e1-359.e11. 2014
    ....
  3. pmc Cancer risk in children and adolescents with birth defects: a population-based cohort study
    Lorenzo D Botto
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    PLoS ONE 8:e69077. 2013
    ..Excess cancer risk may be an added burden in this vulnerable group of children, but studies to date have provided inconsistent findings. This study assessed the risk for cancer in children and young adolescents with major birth defects...
  4. pmc Fostering international collaboration in birth defects research and prevention: a perspective from the International Clearinghouse for Birth Defects Surveillance and Research
    Lorenzo D Botto
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 N Medical Drive, Salt Lake City, UT 84132, USA
    Am J Public Health 96:774-80. 2006
    ....
  5. doi request reprint Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research
    Lorenzo D Botto
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, USA
    Am J Med Genet C Semin Med Genet 157:262-73. 2011
    ..An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex...
  6. doi request reprint Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health School of Medicine, Salt Lake City, USA
    Am J Med Genet C Semin Med Genet 157:333-43. 2011
    ..The proportion of cases classified as OEIS complex was lower in this study than previously reported. Among all cases, 54.8% were reported to have an omphalocele...
  7. doi request reprint Maternal nutrition and gastroschisis: findings from the National Birth Defects Prevention Study
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, USA
    Am J Obstet Gynecol 204:404.e1-404.e10. 2011
    ..Gastroschisis is increasing in many countries, especially among young women. Because young women may have inadequate nutrition, we assessed the relationship between individual nutrients and the risk for gastroschisis...
  8. pmc Nutritional factors and hypospadias risks
    Suzan L Carmichael
    Department of Pediatrics, Stanford University, Stanford, CA 94305 5415, USA
    Paediatr Perinat Epidemiol 26:353-60. 2012
    ..We examined whether hypospadias was associated with several aspects of the diet, including intake of animal products, intake of several nutrients and food groups related to a vegetarian diet and oestrogen metabolism, and diet quality...
  9. pmc Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005
    Sonali S Patel
    Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, USA
    Am J Med Genet A 158:2447-55. 2012
    ..If the results of this preliminary study can be replicated, minimizing maternal active and passive smoke exposure may decrease the incidence of AVSDs...
  10. pmc Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    BMJ 336:1420-3. 2008
    ..To assess the association between genitourinary infections in the month before conception to the end of the first trimesterand gastroschisis...
  11. doi request reprint Acetaminophen use in pregnancy and risk of birth defects: findings from the National Birth Defects Prevention Study
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Obstet Gynecol 115:109-15. 2010
    ..To investigate whether exposure during the first trimester of pregnancy to single-ingredient acetaminophen increases the risk of major birth defects...
  12. doi request reprint Lower rate of selected congenital heart defects with better maternal diet quality: a population-based study
    Lorenzo D Botto
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Arch Dis Child Fetal Neonatal Ed 101:F43-9. 2016
    ..To evaluate whether better diet quality in mothers is associated with lower risk for major non-syndromic congenital heart defects in their children...
  13. doi request reprint AEBP1 gene variants in infants with gastroschisis
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
    Birth Defects Res A Clin Mol Teratol 94:738-42. 2012
    ..Gastroschisis is a severe abdominal wall defect more common in young women and recently associated with a genitourinary infection early in pregnancy...
  14. pmc Reduced risks of neural tube defects and orofacial clefts with higher diet quality
    Suzan L Carmichael
    Department of Pediatrics, Stanford University, CA 94305 5415, USA
    Arch Pediatr Adolesc Med 166:121-6. 2012
    ..To examine whether better maternal diet quality was associated with reduced risk for selected birth defects...
  15. doi request reprint Is gastroschisis truly a sporadic defect?: familial cases of gastroschisis in Utah, 1997 to 2008
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA
    Birth Defects Res A Clin Mol Teratol 91:873-8. 2011
    ..The purpose of this study was to determine which gastroschisis cases in the Utah Birth Defect Network (UBDN) were related and the excess familial risk among multigenerational families...
  16. doi request reprint Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah
    Am J Med Genet A 170:306-15. 2016
    ..Infant mortality was low overall but still a significant concern in affected preterm infants with associated congenital intestinal atresia. © 2015 Wiley Periodicals, Inc. ..
  17. doi request reprint Better diet quality before pregnancy is associated with reduced risk of gastroschisis in Hispanic women
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT and
    J Nutr 144:1781-6. 2014
    ..Gastroschisis is unique because of its substantial risk in pregnancies of adolescent women. Adolescents may have poor diet quality, which places them at higher risk of gastroschisis...
  18. doi request reprint Maternal smoking and congenital heart defects
    Sadia Malik
    Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, 1120 Marshall St, Little Rock, AR 72202, USA
    Pediatrics 121:e810-6. 2008
    ..In a population-based case-control study, we investigated the association between congenital heart defects and maternal smoking...
  19. doi request reprint Evaluating cost and resource use associated with pulse oximetry screening for critical congenital heart disease: Empiric estimates and sources of variation
    Matthew R Reeder
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah
    Birth Defects Res A Clin Mol Teratol 103:962-71. 2015
    ..Newborn screening for critical congenital heart disease (CCHD) using pulse oximetry is being implemented in the United States and internationally; however, few data are available on the associated in-hospital costs and use of resources...
  20. ncbi request reprint Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment
    Lorenzo D Botto
    Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Birth Defects Res A Clin Mol Teratol 76:693-705. 2006
    ....
  21. pmc Self-reported maternal cigarette smoke exposure during the periconceptional period and the risk for omphalocoele
    Marcia L Feldkamp
    Department of Pediatrics, University of Utah, Salt Lake City, UT
    Paediatr Perinat Epidemiol 28:67-73. 2014
    ..We investigated whether maternal exposure to cigarette smoke was associated with omphalocoele and whether periconceptional folic acid modified the association...
  22. ncbi request reprint Developing a research and public health agenda for gastroschisis: how do we bridge the gap between what is known and what is not?
    Marcia L Feldkamp
    Division of Medical Genetics, University of Utah Health Sciences Center, 2C 402 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
    Am J Med Genet C Semin Med Genet 148:155-61. 2008
  23. doi request reprint Improving quality of life of children with oral clefts: perspectives of parents
    Mary Bishop Stone
    Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    J Craniofac Surg 21:1358-64. 2010
    ..Combining these crucial issues with a life-stage approach provides a framework for intervention that focuses on drivers of quality of life at selected milestones in the life of children with oral clefts...
  24. doi request reprint Reflections on the etiology of structural birth defects: Established teratogens and risk factors
    Marcia L Feldkamp
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah
    Birth Defects Res A Clin Mol Teratol 103:652-5. 2015
    ..The purpose of this Commentary is to provide a concise summary of the current state of knowledge regarding known causes and environmental risk factors of structural defects...
  25. doi request reprint Risk factors for Dandy-Walker malformation: a population-based assessment
    Matthew R Reeder
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah
    Am J Med Genet A 167:2009-16. 2015
    ....
  26. ncbi request reprint Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
    Lorenzo D Botto
    Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Birth Defects Res A Clin Mol Teratol 79:714-27. 2007
    ..We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS)...
  27. doi request reprint Turner Syndrome in Girls Presenting with Coarctation of the Aorta
    Aaron Eckhauser
    Section of Pediatric Cardiothoracic Surgery, Department of Surgery, University of Utah, Salt Lake City, UT Heart Center at Primary Children s Hospital, Intermountain Healthcare, Salt Lake City, UT Electronic address
    J Pediatr 167:1062-6. 2015
    ..To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta...
  28. ncbi request reprint Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12
    Steven B Bleyl
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 140:2368-73. 2006
  29. ncbi request reprint Maternal fever, multivitamin use, and selected birth defects: evidence of interaction?
    Lorenzo D Botto
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway NE, Atlanta, GA 30341, USA
    Epidemiology 13:485-8. 2002
    ..Multivitamin use has been associated with lower risks for some birth defects. We evaluated whether multivitamin use modified birth defect risks associated with febrile illness, a common and possibly teratogenic exposure...
  30. ncbi request reprint Maternal obesity and risk for birth defects
    Margaret L Watkins
    Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Pediatrics 111:1152-8. 2003
    ....
  31. ncbi request reprint A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population
    Lorenzo D Botto
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Pediatrics 112:101-7. 2003
    ..Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its impact on the occurrence of heart defects...
  32. ncbi request reprint Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study
    Mark A Canfield
    Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, 78756, USA
    Birth Defects Res A Clin Mol Teratol 73:679-89. 2005
    ..Using data reported by states to the National Birth Defects Prevention Network, we examined whether folic acid fortification might have decreased the prevalence of other specific birth defects...
  33. ncbi request reprint Improving the quality of surveillance data on congenital heart defects in the metropolitan Atlanta congenital defects program
    Tiffany Riehle-Colarusso
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Birth Defects Res A Clin Mol Teratol 79:743-53. 2007
    ..This study reports the classification of cases of CHDs in a birth defects surveillance database using modified STS nomenclature...
  34. pmc Diabetes mellitus and birth defects
    Adolfo Correa
    Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
    Am J Obstet Gynecol 199:237.e1-9. 2008
    ..The purpose of this study was to examine associations between diabetes mellitus and 39 birth defects...
  35. ncbi request reprint Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps
    Lorenzo D Botto
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Am J Med Genet A 121:95-101. 2003
    ..We review and discuss the evidence and suggest a framework for further investigation in this area...
  36. ncbi request reprint Improvement in stroke mortality in Canada and the United States, 1990 to 2002
    Quanhe Yang
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
    Circulation 113:1335-43. 2006
    ..The resulting population-wide reduction in blood homocysteine concentrations might be expected to reduce stroke mortality if high homocysteine levels are an independent risk factor for stroke...
  37. ncbi request reprint Autosomal trisomy and maternal use of multivitamin supplements
    Lorenzo D Botto
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    Am J Med Genet A 125:113-6. 2004
    ..3) for Down syndrome and 1.4 (95% CI, 0.5-3.6) for trisomies 13 and 18, with little variation by maternal race or age. Periconceptional multivitamin use was not associated with a major reduction in the risk for common autosomal trisomies...
  38. ncbi request reprint Vitamin supplements and the risk for congenital anomalies other than neural tube defects
    Lorenzo D Botto
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
    Am J Med Genet C Semin Med Genet 125:12-21. 2004
    ..We discuss key gaps in knowledge, possible avenues for future research, and counseling issues for families concerned about occurrence or recurrence of these birth defects...
  39. ncbi request reprint Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank
    Quan He Yang
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
    Am J Clin Nutr 88:232-46. 2008
    ..Folate intake and genetic polymorphisms encoding folate-metabolizing enzymes influence blood folate and homocysteine concentrations, but the effects and interactions of these factors have not been studied on a population-wide basis...
  40. ncbi request reprint Spina bifida and folate-related genes: a study of gene-gene interactions
    Raffaella de Franchis
    Department of Pediatrics, Federico II University, Napoli, Italy
    Genet Med 4:126-30. 2002
    ..To assess whether interactions of common alleles of two folate genes contribute to spina bifida risk...
  41. doi request reprint Maternal reports of family history from the National Birth Defects Prevention Study, 1997-2001
    Ridgely Fisk Green
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    Genet Med 10:37-45. 2008
    ..To assess usefulness of family history information obtained in pediatric practice, we evaluated maternally reported family history data...