Study Center: Utah

The Utah Center was established in 2002 and was based within the Utah Birth Defect Network (UBDN). The UBDN was a joint effort between the Utah Department of Health, the University of Utah Health Sciences Center and the University of Washington until 2014. The Utah Center's staff included experts in epidemiology and genetics, including both molecular and clinical genetics. 

Utah researchers are particularly interested in congenital heart defects, gastroschisis, and cleft lip and palate. Congenital heart defects are common and represent 25% of all birth defects in Utah. Gastroschisis, though not as common, is increasing for reasons that are still unclear. Cleft lip and palate rates in Utah are some of the highest in the nation and among the highest in the world. Understanding the causes of specific birth defects will help to find strategies to lower the risk of birth defects and help families have healthy babies. Being part of the National Birth Defect Prevention Study was very exciting and Drs. Botto and Feldkamp remain committed to help train young scientists, to promote birth defects research, and prevention.

Principal Investigators

Marcia Feldkamp, PhD, PA, MSPH

Principal Investigator

Marcia Feldkamp, PhD, PA, MSPH, was Principal Investigator of the Utah Center. She was responsible for overseeing the Center’s infrastructure, its related activities for data collection, and the research projects in Utah. In 2009, she was the Chair of the NBDPS Coordinating Council and 2010 she was Chair of the Infection Work Group. Dr. Feldkamp is currently an Emeritus Research Professor in the Department of Pediatrics at the University of Utah and remains actively involved in birh defects research.

Lorenzo  Botto, MD, was a co-PI of the Utah Center. He is Professor of Pediatrics and a clinical geneticist in the Division of Medical Genetics at the University of Utah> As an Attending Clinician at the Children’s Hospital and University Hospital he sees children and adults with birth defects and genetic conditions both inpatient and outpatient, and directs the specialty Undiagnosed Disease Program and the Skeletal Dysplasia Program. As a medical epidemiologist, he directs several public health studies on birth defects, including congenital heart defects. As the director of the International Center on Birth Defects (ICBD), the head office of ICBDSR ( International Clearinghouse for Birth Defects Surveillance and Research), he helps support international capacity building in birth defect surveillance and prevention.

Local Activities and Research

  • Evolutionary and developmental biology approach to gastroschisis
  • Pathogenesis of gastroschisis
  • Gastroschisis and genitourinary tract infections
  • Gastroschisis and Preconception BMI
  • Genetic susceptibility of gastroschisis
  • Clinical description of gastroschisis
  • Familial analysis of gastroschisis
  • Familial analysis of omphalocele
  • Familial analysis of congenital heart defects
  • Neural Tube Defects prevention (occurrence and recurrence)
  • Paternal or grandmaternal age and trisomy 21 in offspring
  • Epitope analysis of prenatal infections for gastroschisis
  • Assisted reproductive technology and birth defects study
  • Clinical assessment of gastroschisis to assist with clinical decision making prior to delivery
  • Ongoing graduate student research projects
  • Geocoded data to conduct spatial analysis
  • Triple surveillance for birth defect prevention and care
  • Integrating rare disease and in birth defect surveillance 
  • Developing and deploying training and tools for birth defect surveillance
  • Quality improvement in birth defect surveillance
  • Application of machine learning in birth defect studies

Notable Research Findings

Feldkamp ML, Canfield MA, Krikov S, Prieto-Merino D, Šípek A Jr, LeLong N, Amar E, Rissmann A, Csaky-Szunyogh M, Tagliabue G, Pierini A, Gatt M, Bergman JEH, Szabova E, Bermejo-Sánchez E, Tucker D, Dastgiri S, Bidondo MP, Canessa A, Zarante I, Hurtado-Villa P, Martinez L, Mutchinick OM, Camelo JL, Benavides-Lara A, Thomas MA, Liu S, Nembhard WN, Gray EB, Nance AE, Mastroiacovo P, Botto LD. Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017. Birth Defects Res. 2024 Feb;116(2):e2306. doi: 10.1002/bdr2.2306. PMID: 38411327

Feldkamp ML, Carey JC. The pathogenesis of gastroschisis. Birth Defects Res 2023;115(5):515-516. 

Leke AZ, Malherbe H, Kalk E, Mehta U, Kisa P, Botto LD, Ayede I, Fairlie L, Maboh NM, Orioli I, Zash R, Kusolo R, Mumpe-Mwanja D, Serujogi R, Bongomin B, Osoro C, Dah C, Sentumbwe-Mugisha O, Shabani HK, Musoke P, Dolk H, Barlow-Mosha L. The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review. PLOS Glob Public Health. 2023 Jun 28;3(6):e0001850. doi: 10.1371/journal.pgph.0001850. eCollection 2023. PMID: 37379291.

Einerson BD, Nelson R, Botto LD, Minich LL, Krikov S, Waitzman N, Pinto NM. Prenatally diagnosed congenital heart disease: the cost of maternal care. J Matern Fetal Neonatal Med. 2022 Dec;35(26):10428-10434. doi: 10.1080/14767058.2022.2128660. Epub 2022 Oct 3. PMID: 36191921.

Kancherla V, Botto LD, Rowe LA, Shlobin NA, Caceres A, Arynchyna-Smith A, Zimmerman K, Blount J, Kibruyisfaw Z, Ghotme KA, Karmarkar S, Fieggen G, Roozen S, Oakley GP Jr, Rosseau G, Berry RJ Preventing birth defects, saving lives, and promoting health equity: an urgent call to action for universal mandatory food fortification with folic acid. Lancet Glob Health. 2022 Jul;10(7):e1053-e1057. doi: 10.1016/S2214-109X(22)00213-3. Epub 2022 May 23. PMID: 35617975

Botto LD. From cause to care: Can a triple approach to better population data improve the global outlook of congenital heart disease? Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):23-35. doi: 10.1002/ajmg.c.31775. Epub 2020 Feb 21. PMID: 32083404

Feldkamp ML, Arnold KE, Krikov S, et al. Risk of gastroschisis with maternal genitourinary infections: the US National birth defects prevention study 1997-2011. BMJ 2019;9(3):e026297.

Opitz JM, Feldkamp ML, Botto LD: An evolutionary and developmental biology approach to gastroschisis. Birth Defects Res 2019; 111(6):294-311.

Botto LD, Mastroiacovo P. Triple surveillance: a proposal for an integrated strategy to support and accelerate birth defect prevention. Ann N Y Aced Sci. 2018 Feb;1414(1):126-136. doi: 10.1111/nyas.13600. PMID: 29532515.

Feldkamp ML, Carey JC. Byrne JLB, Krikov S, Botto LD. Etiology and clinical presentation of birth defects: population based study. BMJ 2017; 357:j2249

Feldkamp ML, Botto LD, Carey JC. Reflections on the etiology of structural birth defects: Established teratogens and risk factors. Birth Defects Res A Clin Mol Teratol 2015;103(8):652-655.

Feldkamp ML, Meyer RE, Krikov S, Botto LD. Acetaminophen use in pregnancy and risk for birth defects: findings from the National Birth Defects Prevention Study. Ob Gyn 2010; 115(1):109-115.

Feldkamp ML, Reefhuis J, Kucik J, Krikov S, Wilson A, Moore CA, Carey JC, Botto LD and the National Birth Defects Prevention Study. Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003. BMJ 2008;336(7658): 1420-1423.

Partners

  • Molecular Genetics, University of Washington
  • Primary Children's Medical Center
  • University of Utah Health Sciences Center