Epidemiology and Prognosis of Congenital Diaphragmatic Hernia

A Population-Based Cohort Study in Utah

Hari Shanmugam, Luca Brunelli, Lorenzo D. Botto, Sergey Krikov, Marcia L. Feldkamp

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1451-1459
Number of pages9
JournalBirth Defects Research
Volume109
Issue number18
DOIs
StatePublished - Nov 1 2017

Fingerprint

Epidemiology
Cohort Studies
Liver
Population
Stillbirth
Infant Mortality
Planning
Defects
Population Surveillance
Pregnancy
Apgar Score
Live Birth
Pregnancy Outcome
Congenital Diaphragmatic Hernias
Parents
Parturition
Mortality
Research

Keywords

  • congenital diaphragmatic hernia
  • epidemiology
  • etiologic classification
  • mortality
  • prevalence

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Toxicology
  • Developmental Biology
  • Health, Toxicology and Mutagenesis

Cite this

Epidemiology and Prognosis of Congenital Diaphragmatic Hernia : A Population-Based Cohort Study in Utah. / Shanmugam, Hari; Brunelli, Luca; Botto, Lorenzo D.; Krikov, Sergey; Feldkamp, Marcia L.

In: Birth Defects Research, Vol. 109, No. 18, 01.11.2017, p. 1451-1459.

Research output: Contribution to journalArticle

Shanmugam, Hari ; Brunelli, Luca ; Botto, Lorenzo D. ; Krikov, Sergey ; Feldkamp, Marcia L. / Epidemiology and Prognosis of Congenital Diaphragmatic Hernia : A Population-Based Cohort Study in Utah. In: Birth Defects Research. 2017 ; Vol. 109, No. 18. pp. 1451-1459.
@article{5bc8bcb5d09145f092dbdf3fbfa93f15,
title = "Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah",
abstract = "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.",
keywords = "congenital diaphragmatic hernia, epidemiology, etiologic classification, mortality, prevalence",
author = "Hari Shanmugam and Luca Brunelli and Botto, {Lorenzo D.} and Sergey Krikov and Feldkamp, {Marcia L.}",
year = "2017",
month = "11",
day = "1",
doi = "10.1002/bdr2.1106",
language = "English (US)",
volume = "109",
pages = "1451--1459",
journal = "Birth Defects Research",
issn = "2472-1727",
publisher = "John Wiley and Sons Ltd",
number = "18",

}

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.

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

UR - http://www.scopus.com/inward/record.url?scp=85030030648&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85030030648&partnerID=8YFLogxK

U2 - 10.1002/bdr2.1106

DO - 10.1002/bdr2.1106

M3 - Article

VL - 109

SP - 1451

EP - 1459

JO - Birth Defects Research

JF - Birth Defects Research

SN - 2472-1727

IS - 18

ER -