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Published on: February 5, 2021
The hidden mortality of congenital diaphragmatic hernia: a 20-year review
E M Brownlee1, A G Howatson, C F Davis
1Department of Surgical Paediatrics, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland. ewanbrownlee@doctors.net.uk
Insights
Congenital diaphragmatic hernia (CDH) mortality is underestimated as fetuses are excluded from survival analyses. Postmortem reviews reveal a higher incidence of CDH, particularly right-sided hernias and multiple anomalies, in fetal deaths.
Area of Science:
- Medical research
- Pediatric surgery
- Fetal pathology
Background:
- Congenital diaphragmatic hernia (CDH) survival analyses often exclude fetal deaths, masking true mortality.
- Accurate assessment of CDH incidence and associated anomalies is crucial for understanding its impact.
Purpose of the Study:
- To determine the hidden mortality associated with congenital diaphragmatic hernia (CDH).
- To quantify the nature and frequency of anomalies accompanying CDH in fetal deaths.
Main Methods:
- Retrospective review of postmortem (PM) records over a 20-year period (1986-2005).
- Inclusion of data on live births, stillbirths, therapeutic abortions, and spontaneous abortions with CDH diagnosis.
Main Results:
- 130 PMs with CDH were identified: 97 left-sided, 22 right-sided, 11 bilateral.
- Associated anomalies were common (63%), with cardiac, gastrointestinal, and neural tube defects being most frequent.
- Right-sided/bilateral hernias and multiple anomalies were more prevalent in intrauterine deaths.
Conclusions:
- The true incidence of CDH is significantly higher than suggested by neonatal surgical data.
- Declining postmortem rates may further underestimate CDH incidence.
- Fetal deaths exhibit a higher proportion of right-sided/bilateral CDH and multiple congenital anomalies.
Aims:
The true mortality associated with congenital diaphragmatic hernia (CDH) is hidden because survival analyses do not include fetuses with CDH. A retrospective review of all postmortems (PMs) with a diagnosis of CDH over a 20-year period was carried out to highlight this hidden mortality and also measure the nature and number of associated anomalies.
Methods:
Postmortem case record details were reviewed for the period January 1986 to December 2005. Data were collected on live birth, stillbirth, therapeutic abortion, and spontaneous abortion.
Results:
There was a decline in the annual number of PMs during the period of the study. The median for the four 5-year intervals being 609 (570-657), 528 (488-565), 515 (413-537), and 373 (357-388). A total of 130 PMs were identified, which included a diagnosis of CDH; 97 (75%) were left sided, 22 (17%) were right sided, and 11 (8%) were bilateral. There were 69 live births, 46 therapeutic abortions, 10 stillbirths, and 5 intrauterine deaths; 22% were right sided/bilateral in the live and therapeutic abortion groups, whereas 53% were right sided/bilateral in the latter 2 groups. Of 130, 82 (63%) had major associated anomalies, and 50% of these had at least 1 further major anomaly. The commonest categories of anomalies were cardiac (30), gastrointestinal/abdominal wall defect (28), and neural tube defects (25).
Conclusions:
The true incidence of CDH is considerably higher than that seen in neonatal surgical practice. The decline in number of PMs in our region will exacerbate the underestimation of the true incidence. There is a higher incidence of right-sided/bilateral hernias and more than one major anomaly in those who die in utero.
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