TY - JOUR
T1 - Epidemiology and Prognosis of Congenital Diaphragmatic Hernia
T2 - A Population-Based Cohort Study in Utah
AU - Shanmugam, Hari
AU - Brunelli, Luca
AU - Botto, Lorenzo D.
AU - Krikov, Sergey
AU - Feldkamp, Marcia L.
N1 - Funding Information:
1Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 2Division of Neonatology, Department of Pediatrics, University of Nebraska and Children’s Hospital Medical Center, Omaha, Nebraska 3Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah Data were provided by the Utah Birth Defect Network (UBDN), a program of the Utah Department of Health, which is supported by the Health Resources and Services Administration of the U.S. Department of Health and Human Services under grant number B04MC25374 with a title of Maternal and Child Health Services. This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by Health Resources and Services Administration, the U.S. Government, or the Utah Department of Health. The authors have no conflicts of interest to disclose relevant to this article. *Correspondence to: Marcia L. Feldkamp, Division of Medical Genetics, Department of Pediatrics, University of Utah, 295 Chipeta Way, Suite 2S010, Salt Lake City, Utah 84108. E-mail: marcia.feldkamp@hsc.utah.edu Published online 19 September 2017 in Wiley Online Library (wileyonlinelibrary. com). Doi: 10.1002/bdr2.1106 (3%). Overall infant mortality was 32.5%, and varied considerably by underlying etiology (isolated 21%; multiple 44%; syndromic 82%). Prognosis was related to specific clinical findings within each etiologic group (e.g., prematurity, low Apgar score, and intrathoracic liver). Conclusion: This information on specific clinical and etiologic factors associated with prognosis can help clinicians and parents in the complex discussions about care planning and management that often occur in a crisis situation, following the diagnosis of CDH, whether prior or after delivery.
Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/11/1
Y1 - 2017/11/1
N2 - Background: Congenital diaphragmatic hernia (CDH) is a relatively frequent and severe malformation. Population-based data on clinical presentation and associated mortality are scarce. We examined a state-wide cohort of infants with a clinically validated diagnosis of CDH to assess their clinical profile, sociodemographic patterns, and infant mortality. Methods: We identified CDH cases from Utah's statewide population-based surveillance program among the cohort of all pregnancy outcomes (live births, stillbirths, and pregnancy terminations) delivered from 1999 to 2011. Clinical geneticists reviewed all cases and classified them based on etiology (known, unknown), and whether they were isolated, multiple (additional unrelated major malformations or unique minor malformation), or syndromic (genetic, chromosomal). Results: CDH occurred in 1 in 3156 births (227/718,990, or 3.17 per 10,000), with no time trend during the 13 years (p = 0.85). CDH was much more common in males (male to female ratio, 1.72:1; p < 0.01). Clinically, 64% of the cases were isolated, 23% were multiples, and 13% were syndromic. Most cases were live born (90%), with fewer stillbirths (7%) and pregnancy terminations (3%). Overall infant mortality was 32.5%, and varied considerably by underlying etiology (isolated 21%; multiple 44%; syndromic 82%). Prognosis was related to specific clinical findings within each etiologic group (e.g., prematurity, low Apgar score, and intrathoracic liver). Conclusion: This information on specific clinical and etiologic factors associated with prognosis can help clinicians and parents in the complex discussions about care planning and management that often occur in a crisis situation, following the diagnosis of CDH, whether prior or after delivery. Birth Defects Research 109:1451–1459, 2017.
AB - Background: Congenital diaphragmatic hernia (CDH) is a relatively frequent and severe malformation. Population-based data on clinical presentation and associated mortality are scarce. We examined a state-wide cohort of infants with a clinically validated diagnosis of CDH to assess their clinical profile, sociodemographic patterns, and infant mortality. Methods: We identified CDH cases from Utah's statewide population-based surveillance program among the cohort of all pregnancy outcomes (live births, stillbirths, and pregnancy terminations) delivered from 1999 to 2011. Clinical geneticists reviewed all cases and classified them based on etiology (known, unknown), and whether they were isolated, multiple (additional unrelated major malformations or unique minor malformation), or syndromic (genetic, chromosomal). Results: CDH occurred in 1 in 3156 births (227/718,990, or 3.17 per 10,000), with no time trend during the 13 years (p = 0.85). CDH was much more common in males (male to female ratio, 1.72:1; p < 0.01). Clinically, 64% of the cases were isolated, 23% were multiples, and 13% were syndromic. Most cases were live born (90%), with fewer stillbirths (7%) and pregnancy terminations (3%). Overall infant mortality was 32.5%, and varied considerably by underlying etiology (isolated 21%; multiple 44%; syndromic 82%). Prognosis was related to specific clinical findings within each etiologic group (e.g., prematurity, low Apgar score, and intrathoracic liver). Conclusion: This information on specific clinical and etiologic factors associated with prognosis can help clinicians and parents in the complex discussions about care planning and management that often occur in a crisis situation, following the diagnosis of CDH, whether prior or after delivery. Birth Defects Research 109:1451–1459, 2017.
KW - congenital diaphragmatic hernia
KW - epidemiology
KW - etiologic classification
KW - mortality
KW - prevalence
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U2 - 10.1002/bdr2.1106
DO - 10.1002/bdr2.1106
M3 - Article
C2 - 28925604
AN - SCOPUS:85030030648
VL - 109
SP - 1451
EP - 1459
JO - Birth Defects Research
JF - Birth Defects Research
SN - 2472-1727
IS - 18
ER -