Antenatal Diagnosis of Congenital Diaphragmatic Hernia

doi:10.1053/j.semperi.2005.04.002

Seminars in Perinatology

Volume 29, Issue 2, April 2005, Pages 69-76

https://doi.org/10.1053/j.semperi.2005.04.002 Get rights and content

Congenital diaphragmatic hernia occurs in approximately 1 of 2200 live births and is associated with a high degree of morbidity and mortality. Poor outcome in these cases is primarily related to the presence of additional anomalies or abnormal karyotype and the development of pulmonary and cardiovascular complications. Prenatal diagnosis occurs in approximately 50% of cases. Multiple ultrasound markers have been identified as being predictive of outcome. Three-dimensional ultrasound, fetal echocardiography, and magnetic resonance imaging have been identified as additional imaging modalities that can assist in making the antenatal diagnosis and accurately assessing perinatal outcome.

Section snippets

Outcome of Prenatally Diagnosed CDH

Despite our ability to make a prenatal diagnosis and provide intensive postnatal care, the perinatal mortality remains high for cases of prenatally diagnosed CDH. Most studies continue to report a poor prognosis for fetuses with CDH.12, 19, 20, 21 However, the outcomes reported for infants with CDH vary widely depending on the population that is being studied. Early retrospective studies of cases of prenatally diagnosed CDH described a survival rate of only 20% to 30%. However, these studies

Differential Diagnosis of CDH

The differential diagnosis of CDH includes lung lesions, such as congenital cystic adenomatoid malformation (CCAM), bronchopulmonary sequestration (BPS), bronchogenic cysts, bronchial atresia, diaphragmatic eventration, enteric cysts, and mediastinal teratomas (Table 5). The distinction between these different diagnoses is often difficult; however, CDH can be excluded by the presence of normal intraabdominal organs, and is more likely when peristalsis is seen within the thorax.

Prenatal Diagnosis of CDH

Ultrasound imaging has become a routine aspect of obstetric care, allowing for assessment of fetal size and anatomy and the prenatal diagnosis of many anomalies. However, recent large multicenter studies suggest that the prenatal detection rate of CDH is still only approximately 50%.24, 25 These studies identified a large regional variation in the prenatal detection rate of CDH, ranging from 29% to 100%. In addition, the detection rate was noted to increase significantly in the presence of

Prenatal Assessment of Prognosis

After the prenatal diagnosis of CDH is made, predicting outcome for these cases remains challenging. Perinatal outcome appears to be primarily dependent on two factors: the presence of additional anomalies and the degree of lung hypoplasia and cardiovascular changes that occur secondary to the herniation. Lung hypoplasia occurs as a result of relatively more solid abdominal organs occupying the thorax during the critical period of lung development, thereby limiting the space available for

Ultrasound and Assessment of Prognosis

Ultrasound has been utilized to assess outcome in these cases in several ways. Again, the most important role of ultrasound is to detect the presence of additional anomalies, and therefore, identify the cases at highest risk for poor outcome. Additional ultrasound findings that have been identified as being associated with a poor outcome are listed in Table 6. No single prenatal ultrasound marker has been shown to be absolutely predictive of postnatal outcome.

The significance of gestational age

Three-Dimensional Ultrasound and Assessment of Prognosis

The role of three-dimensional ultrasound in the prenatal evaluation of CDH remains investigational at this time. Normograms of fetal lung volume measured by three-dimensional ultrasound have been published and demonstrate increasing lung volumes with advancing gestational age.41, 42 Three-dimensional ultrasound has been shown to provide accurate estimations of fetal lung volumes when compared with postmortem measurements in cases of CDH.⁴³ Furthermore, in a prospective study of 12 cases of CDH,

Fetal Echocardiography and Assessment of Prognosis

The role of fetal echocardiography in predicting prognosis in these cases is twofold. First, because the presence of an additional cardiac anomaly is associated with a significantly worse prognosis, echocardiography should be considered in all pregnancies with a diagnosis of CDH to assess the cardiac anatomy. Multiple studies have also looked at the ability of fetal echocardiography to predict poor outcome based on the presence of pulmonary hypertension. The prenatal diagnosis of this

MRI and Assessment of Prognosis

Prenatal MRI may have many benefits over conventional ultrasound imaging and may provide additional information regarding prognosis in these cases. Unlike ultrasound, MRI is not limited by maternal obesity or oligohydramnios, and it provides better soft-tissue contrast.⁴⁷ MRI has been shown to be effective in confirming the diagnosis of CDH and detecting the presence of additional anomalies.⁴⁸

As with fetal echocardiography, MRI may assist in predicting prognosis in these cases in several ways.

Conclusion

When the diagnosis of CDH is suspected, a consultation with a maternal-fetal medicine specialist should be arranged. A thorough ultrasound evaluation to confirm the diagnosis, detect additional anomalies, and assess prognosis as outlined above should be performed. Fetal echocardiography is suggested to rule out cardiac malformations and assess fetal heart function. MRI should be considered to confirm the diagnosis and to potentially gain additional information that may affect prognosis. Genetic

References (62)

M.R. Harrison et al.
Congenital diaphragmatic herniathe hidden mortality
J Pediatr Surg
(1978)
P. Puri et al.
Lethal nonpulmonary anomalies associated with congenital diaphragmatic herniaimplications for early intrauterine surgery
J Pediatr Surg
(1984)
N.S. Adzick et al.
Diaphragmatic hernia in the fetusprenatal diagnosis and outcome in 94 cases
J Pediatr Surg
(1985)
M.R. Harrison et al.
Correction of congenital diaphragmatic hernia. VI. Hard earned lessons
J Pediatr Surg
(1993)
A.P. Metkus et al.
Sonographic predictors of survival in fetal diaphragmatic hernia
J Pediatr Surg
(1996)
H. Grandjean et al.
The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study
Am J Obstet Gynecol
(1999)
D.A. Lewis et al.
Prenatal ultrasound frequently fails to diagnose congenital diaphragmatic hernias
J Pediatr Surg
(1997)
M.R. Harrison et al.
Correction of congenital diaphragmatic hernia in utero. V. Initial clinical experience
J Pediatr Surg
(1990)
J.M. Wilson et al.
Antenatal diagnosis of isolated congenital diaphragmatic hernia is not an indicator of outcome
J Pediatr Surg
(1994)
D.M. Burge et al.
Could the stomach site help predict outcome in babies with left sided congenital diaphragmatic hernia diagnosed antenatally?
J Pediatr Surg
(1989)

E.I. Hatch et al.

Stomach position as an in utero predictor of neonatal outcome in left-sided diaphragmatic hernia

J Pediatr Surg

(1992)

M.R. Harrison et al.

Correction of congenital diaphragmatic hernia in utero IXfetuses with poor prognosis (liver herniation and low lung-to-head ratio) can be saved by fetoscopic temporary tracheal occlusion

J Pediatr Surg

(1998)

B.R. Benacerraf et al.

Fetal diaphragmatic herniaUltrasound diagnosis and clinical outcome in 19 cases

Am J Obstet Gynecol

(1987)

R. Chaoui et al.

Pulmonary arterial Doppler velocimetry in fetuses with lung hypoplasia

Eur J Obstet Gyn R B

(1999)

V.L. Ward

MR imaging in the prenatal diagnosis of fetal chest masseseffects on diagnostic accuracy, clinical decision making, parental understanding, and prediction of neonatal respiratory health outcomes

Acad Radiol

(2002)

D.S. Walsh et al.

Assessment of fetal lung volumes and liver herniation with magnetic resonance imaging in congenital diaphragmatic hernia

Am J Obstet Gynecol

(2000)

D. Mahieu-Caputo et al.

Fetal lung volume measurement by magnetic resonance imaging in congenital diaphragmatic hernia

Br J Obstet Gynaecol

(2001)

K.D. Wenstrom et al.

A five-year statewide experience with congenital diaphragmatic hernia

Am J Obstet Gynecol

(1991)

N. Butler et al.

Congenital diaphragmatic hernia as a cause of perinatal mortality

Lancet

(1962)

M.R. Langham et al.

Congenital diaphragmatic herniaepidemiology and outcome

Clin Perinat

(1996)

P. Puri

Epidemiology of congenital diaphragmatic hernia

Med Prob Paediatr

(1989)

C.P. Torfs et al.

A population-based study of congenital diaphragmatic hernia

Teratology

(1992)

J.P. Crane

Familial congenital diaphragmatic herniaprenatal diagnostic approach and analysis of twelve families

Clin Genet

(1979)

M. Tubinsky et al.

Fryns syndromea new variable multiple congenital anomaly (MCA) syndrome

Am J Med Genet

(1983)

T.J. David et al.

Diaphragmatic hernia in the south-west of England

J Med Genet

(1976)

R.D. Greenwood et al.

Cardiovascular abnormalities associated with congenital diaphragmatic hernia

Pediatrics

(1976)

M.R. Harrison et al.

D.W. Smith

M.N. Evans et al.

Chonanal atresia

J Laryngolotol

(1971)

N. Hoboth

Drugs and congenital abnormalities

Lancet

(1962)

M.B. Brachen et al.

Bendictin (Debendax) and congenital diaphragmatic hernia

Lancet

(1983)

Cited by (105)

The Impact of Comprehensive Fetal Care on Mortality of Children With Congenital Diaphragmatic Hernia when Delivery is Co-located in a Pediatric Hospital
2024, Journal of Pediatric Surgery
We evaluated the impact of delivery at a comprehensive fetal care center co-located in a pediatric hospital on extracorporeal membrane oxygenation (ECMO) exposure and survivorship of children with CDH.
This retrospective study includes maternal–fetal dyads with a prenatal diagnosis of isolated CDH who received any prenatal care at a single fetal center between February 2006 and March 2021. The principal variables included: (1) delivery setting (children born in the pediatric hospital [“inborn”] vs. children who were delivered elsewhere [“outborn”]), (2) exposure to ECMO (yes vs. no), and (3) survival-at-discharge from birth hospitalization (yes vs. no). Multivariable logistic regression was used to evaluate the association between delivery setting and ECMO cannulation, and whether delivery setting moderates the association between exposure to ECMO and survival-at-discharge.
Among 418 maternal–fetal dyads, 77.0% of children were inborn and 32.0% of children were exposed to ECMO during their index hospitalization. Inborn children had more severe prenatal prognostic indicators but had a 57% lower odds of extracorporeal than outborn children. In multivariable logistic regression, delivery setting moderated the association between exposure to ECMO and survival-at-discharge. Although there was no statistically significant difference in mortality between inborn and outborn children who were not exposed to ECMO, inborn children exposed to ECMO had a 6.86 (1.98, 23.74) increased odds of death and outborn children exposed to ECMO had a 17.71 (4.69, 66.87) increased odds of death when both were compared to non-cannulated outborn children.
Comprehensive fetal care with delivery co-located in a pediatric hospital was associated with decreased exposure to ECMO and a survivorship advantage among children with CDH who required extracorporeal support.
Level III.
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder
2022, European Journal of Medical Genetics
Citation Excerpt :
The cause of death for the three babies in this report was likely due to the severity of congenital diaphragmatic hernia (CDH). CDH defects are defined as an opening in the muscle dividing the thoracic and abdominal cavities, which may allow the abdominal organs to herniate into the chest cavity (Graham and Devine 2005). The infiltrating organs limit space in the thorax and interfere with normal lung development.
We report on three male siblings who presented prenatally with a nearly identical combination of congenital anomalies and who died shortly after preterm birth. The first baby was a singleton pregnancy, and the other two babies were dichorionic diamniotic twins. Key features included: left-sided congenital diaphragmatic hernia, inferior vermian dysgenesis/hypoplasia, prenasal edema, cleft palate, micropenis/ambiguous genitalia (in 2 of 3 babies), bilateral renal pelvic dilatation (in twins, first baby showed slightly enlarged kidneys) and polyhydramnios (in 2 of 3). Whole genome sequencing performed on DNA from all three babies revealed homozygous missense PIGL gene variants: c.438C>A, p.(Phe146Leu). Both parents were heterozygous carriers of the variant. The reporting clinical laboratory classified the change as a variant of uncertain significance (VUS), and concluded “A genetic diagnosis of autosomal recessive CHIME syndrome is possible”. The PIGL gene has been reported to cause two different autosomal recessive conditions: CHIME syndrome and Mabry syndrome. CHIME (Zunich neuroectodermal syndrome) is characterized by ocular Colobomas, Heart defects, Ichthyosiform dermatosis, Mental retardation (intellectual disability), and Ear anomalies, including conductive hearing loss. Mabry [aka hyperphosphatasia mental retardation syndrome (HPMRS)] is characterized by severe developmental delay, moderate to severe intellectual disability, distinctive facial features, brachytelephalangy, increased serum levels of alkaline phosphatase (ALP), and recurrent seizures. Neonatal demise and lack of postmortem examination precluded assessment of some key features (including seizures, developmental delay, ALP levels, colobomas and deafness), but overlapping features observed included cleft palate, brain anomalies, genitourinary abnormalities and prenasal edema. Notably, diaphragmatic hernia is not a common feature of either condition, but is a cardinal feature of Fryns syndrome. The genetic etiology of Fryns syndrome has not been definitively established, although, much like CHIME and Mabry syndrome, can be caused by variants in glycosylphosphatidylinositol (GPI) anchor pathway genes. Our findings suggest further overlap between inherited GPI deficiencies, and possible expansion of the clinical phenotype of PIGL-related disorders to include prenatal presentations with congenital diaphragmatic hernia. Although reported as a VUS, we present phenotypic and familial segregation evidence that supports likely pathogenicity of the c.438C>A variant.
Inborn Versus Outborn Delivery in Neonates With Congenital Diaphragmatic Hernia
2022, Journal of Surgical Research
Congenital diaphragmatic hernia (CDH) is a morbid and potentially fatal condition that challenges providers. The aim of this study is to compare outcomes in neonates with prenatally diagnosed CDH that are inborn (delivered in the institution where definitive care for CDH is provided) versus outborn.
Prenatally diagnosed CDH cases were identified from the Congenital Diaphragmatic Hernia Study Group (CDHSG) database between 2007 and 2019. Using risk adjustment based on disease severity, we compared inborn versus outborn status using baseline risk and multivariable logistic regression models. The primary endpoint was mortality and the secondary endpoint was need for extracorporeal life support (ECLS).
Of 4195 neonates with prenatally diagnosed CDH, 3087 (73.6%) were inborn and 1108 (26.4%) were outborn. There was no significant difference in birth weight, gestational age, or presence of additional congenital anomalies. There was no difference in mortality between inborn and outborn infants (32.6% versus 33.8%, P = 0.44) or ECLS requirement (30.9% versus 31.5%, P = 0.73). Among neonates requiring ECLS, outborn status was a risk factor for mortality (OR 1.51, 95% CI 1.13-2.01, P = 0.006). After adjusting for post-surgical defect size, which is not known prenatally, outborn status was no longer a risk factor for mortality for infants requiring ECLS.
Risk of mortality and need for ECLS for inborn CDH patients is not different to outborn infants. Future studies should be directed to establishing whether highest risk infants are at risk for worse outcomes based on center of birth.
Post-herniorrhaphy extubation technique in pediatric patient with congenital diaphragmatic hernia and VACTERL association: A case report
2021, Annals of Medicine and Surgery
and importance: Congenital diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm causing protrusion of abdominal organs into the thoracic cavity. Comprehensive management, definitive surgical procedures and postoperative care are able to significantly reduce morbidity and mortality in post-herniorrhaphy patients. Here, we reported a case of post herniorrhaphy pediatric patient with a challenge in extubation.
A 4-month-old girl with a chief complaint of respiratory distress from was admitted to our Pediatric Intensive Care Unit. The diagnosis of diaphragmatic hernia was confirmed through small bowel follow-through radiological examination. Definitive treatment of laparotomy and herniorrhaphy were then done. The special technique for extubation was applied. Currently, the patient survives without any sequelae awaiting stoma closure.
Extubation is the removal of an endotracheal tube when it is no longer needed. In mechanically ventilated patients, extubation can be performed in two ways, either using the tracheal suction catheter (TSC) or positive pressure breath (PPB) techniques. Studies show that the PBB extubation technique has better patient outcomes compared to the TSC technique. However, the TSC technique is more commonly done by medical professionals. We used the PPB technique because there were recurrent atelectases in the left lung.
This case report illustrates extubation technique in a post-herniorrhaphy patient with congenital diaphragmatic hernia and VACTERL association. Moreover, several options of extubation techniques can be used for extubation procedure in pediatric patient with CDH.
Prenatal MRI assessment of mediastinal shift angle as a feasible and effective risk stratification tool in isolated right-sided congenital diaphragmatic hernia
2024, European Radiology
Review of the Evaluation of Pulmonary Hypoplasia as an Important Determinant of Clinical Outcomes in Infants with Congenital Diaphragmatic Hernia
2024, Medical Science Monitor

View all citing articles on Scopus

View full text