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Congenital diaphragmatic hernia occurs when the diaphragm is incompletely formed and the abdominal contents herniate into the chest. Infants with diaphragmatic hernia often have additional birth defects, including chromosomal abnormalities (Forrester 1998, Robert 1997, Cannon 1996, Howe 1996, Langham 1996, Torfs 1992, Wenstrom 1991, Adzick 1985, David 1976). Most diaphragmatic hernias occur on the left side of the body (Forrester 1998, Robert 1997, Howe 1996). The main issue with diaphragmatic hernia is that the abdominal organs invade the chest cavity. This leads to lung hypoplasia and pulmonary hypertension. Additionally, these infants often have congenital heart defects that complicate their condition (Cohen 2002).


Several studies have investigated the relationship of race/ethnicity in risk for diaphragmatic hernia and failed to find any significant effect (Forrester 1998, Robert 1997, Langham 1996, Torfs 1992).

There has been some indication that maternal weight may affect the presence of diaphragmatic hernia. Very thin or underweight women are more likely to have infants that manifest this defect (Waller 2003). However, this was not found to be the case for overweight or obese women.

Secular trends have been reported by several investigations (Forrester 1998, Torfs 1992). However, the trends were neither consistent nor statistically significant. One study observed seasonal variation in diaphragmatic hernia rates; however, this variation differed among types of diaphragmatic hernia (Torfs 1992). Moreover, another investigation failed to identify any seasonal variation (Castilla 1990).

Diaphragmatic hernia can be detected prenatally with ultrasonography (Langham, 1996; Vintzileos, 1987). As a result, prenatal diagnosis and elective termination may affect birth prevalence rates for this defect (Forrester 1998, Cannon 1996, Howe 1996, Torfs 1992, Adzick 1985).

Prevalence of diaphragmatic hernia has been reported to vary by geographic location, with rates being higher in rural than urban areas (Forrester 1998, Torfs, 1992).

Maternal age does not appear to influence risk for diaphragmatic hernia (Forrester 1998, Robert 1997, Torfs 1992, David 1976); nor does parity (Robert 1997, Torfs 1992, David 1976). Diaphragmatic hernia risk appears to be higher among multiple births (Robert 1997, Torfs 1992). The recurrence risk of a woman having another infant with diaphragmatic hernia has been reported to be 0.9-2% (Torfs 1992); however, the rate of recurrence is unknown for women with previous unaffected pregnancies.

Infant sex is associated with diaphragmatic hernia risk; males are more likely than females to have the defect (Robert 1997, Torfs 1992, Rasheed 1992, Buyse 1990, Rose-Spencer 1981).


One investigation examined various maternal and environmental factors in relation to diaphragmatic hernia and found no increased risk for maternal thyroid dysfunction or occupational and environmental chemicals, although an herbicide, Nitrofen, has been found to induce diaphragmatic hernia in rats (Bos 1994).

Another study reported a higher than expected diaphragmatic hernia prevalence among infants whose mothers had epilepsy, although this increased risk may be associated with anticonvulsants usage (Holmes 2002, Bertollini 1985). In general, the use of anticonvulsant drugs increases the risk of most birth defects, both when the mother is on a single anti-epileptic drug and when she is on a combination of drugs (Vajda 2002, Holmes 2001, Matalon 2001).

No information was available about the relationship between folic acid or multivitamin intake and diaphragmatic hernia. However, there was one study that indicated that Vitamin A might reduce the likelihood of this defect to women exposed to Nitrofen (Thebaud 1999).

No association has been found between diaphragmatic hernia and the use of marijuana (Fried 2002), antihistamine drugs (Kallen 2002), fluoxetine (Prozac™) (Chambers 1996), or corticosteroids (Park-Wyllie 2000).

There has been no association observed between diaphragmatic hernia and maternal diabetes (Wang 2002).


Birth prevalence in the United States for diaphragmatic hernia ranges between 0.91 and 5.82 per 10,000 live births (National Birth Defects Prevention Network 2005). The rate in Texas for 1999-2002 deliveries was 2.68 cases per 10,000 live births. Differences in prevalence may be due to differences in case inclusion criteria and/or regional differences in diagnostic practices.


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Please Note: The primary purpose of this report is to provide background necessary for conducting cluster investigations. It summarizes literature about risk factors associated with this defect. The strengths and limitations of each reference were not critically examined prior to inclusion in this report. Consumers and professionals using this information are advised to consult the references given for more in-depth information. 

This report is for information purposes only and is not intended to diagnose, cure, mitigate, treat, or prevent disease or other conditions and is not intended to provide a determination or assessment of the state of health. Individuals affected by this condition should consult their physician and when appropriate, seek genetic counseling.

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Document E58-10957C                    Revised November 2005

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Last updated February 10, 2012