Diagnostic Considerations

Special concerns

Using ultrasonography, congenital diaphragmatic hernia (CDH) may be prenatally diagnosed as early as the second trimester.^[15]Suggestive findings include polyhydramnios, an absent or intrathoracic stomach bubble, and mediastinal and cardiac shift. A detailed examination (level II ultrasonography) is typically necessary.

Prenatal diagnosis allows for chromosomal analysis and screening for other anomalies prior to the infant's birth. In addition, it allows the mother time to make important decisions about the pregnancy, including delivery in a facility with a neonatal ICU (NICU) that offers advanced respiratory support for the newborn infant.

Developing meaningful prognostic information before birth continues to be difficult. Some advocate for assessment of lung hypoplasia using ultrasound measurements of liver herniation into the thorax, lung to head ratios (LHR), or pulmonary artery to aorta ratios (modified McGoon index). MRI of the fetus is a promising technique that allows more precise measurement of the lung volume indexed to the body volume.^[16]

Differential Diagnoses

Bronchopulmonary Sequestration
Cystic Adenomatoid Malformation
Disorders of the Thoracic Cavity and Pleura
Persistent Pulmonary Hypertension of the Newborn (PPHN)
Pneumothorax Imaging

Workup

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Media Gallery

Pediatric Congenital Diaphragmatic Hernia. Radiograph of a 1-day-old infant with a moderate-sized congenital diaphragmatic hernia (CDH). Note the air- and fluid-filled bowel loops in the left chest, the moderate shift of the mediastinum into the right chest, and the position of the orogastric tube.

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Author

Robin H Steinhorn, MD Raymond and Hazel Speck Berry Professor of Pediatrics, Division Head of Neonatology, Vice Chair of Pediatrics, Northwestern University, The Feinberg School of Medicine

Robin H Steinhorn, MD is a member of the following medical societies: Alpha Omega Alpha, American Pediatric Society, American Academy of Pediatrics, American Heart Association, American Thoracic Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Nicolas FM Porta, MD Associate Professor, Department of Pediatrics, Northwestern University, The Feinberg School of Medicine; Attending Physician in Neonatalogy, Co-Director, Pediatric Pulmonary Hypertension Program, Ann and Robert H Lurie Children's Hospital of Chicago; Medical Staff, Prentice Women's Hospital-Northwestern Memorial Hospital

Nicolas FM Porta, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Received consulting fee for participating in a clinical study steering committee. for: United Therapeutics.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Arun K Pramanik, MD, MBBS Professor of Pediatrics, Louisiana State University Health Sciences Center

Arun K Pramanik, MD, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, National Perinatal Association, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Dharmendra J Nimavat, MD, FAAP Associate Professor of Clinical Pediatrics, Department of Pediatrics, Division of Neonatology, Southern Illinois University School of Medicine; Staff Neonatologist, Clinical Director, NICU Regional Perinatal Center, HSHS St John's Children's Hospital

Dharmendra J Nimavat, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association of Physicians of Indian Origin

Disclosure: Nothing to disclose.

Additional Contributors

David N Sheftel, MD Assistant Professor of Pediatrics, Chicago Medical School at Rosalind Franklin University of Medicine and SciencE

David N Sheftel, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Ted Rosenkrantz, MD Professor, Departments of Pediatrics and Obstetrics/Gynecology, Division of Neonatal-Perinatal Medicine, University of Connecticut School of Medicine

Ted Rosenkrantz, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, Eastern Society for Pediatric Research, American Medical Association, Connecticut State Medical Society, Society for Pediatric Research

Disclosure: Nothing to disclose.