This document describes a case of congenital diaphragmatic hernia (CDH) in a newborn male infant. It provides details of the pregnancy, delivery, initial symptoms of respiratory distress, diagnostic imaging findings confirming CDH, and surgical repair procedure. Post-operatively, the infant experienced further complications including fever, seizures, and respiratory failure, and ultimately expired after 48 hours. CDH is a birth defect involving an abnormal opening in the diaphragm allowing abdominal organs in the chest cavity. It can be diagnosed prenatally by ultrasound and is typically treated with surgery to repair the diaphragmatic defect along with respiratory support.
1. PERTINENT DATA
HISTORY OF PRESENT
ILLNESS
PHYSICAL
EXAMINATION
DIAGNOSTICS PREOPERATIVE DIAGNOSIS
DLB 26/M
G2P1 (1001)
Prenatal check-up:
Camiling HC 2x; PMD 10x
Chief complaint:
Labor pains
Past Medical History:
Unremarkable
Family History:
Unremarkable
Personal and Social History:
Unremarkable
OB History:
G1- NSD, live,Term, Health
center, Midwife assisted
G2 - Present Pregnancy
Gynecologic History:
Unremarkable
Few hours prior to
admission, patient had
labor pains increasing in
intensity associated with
watery vaginal discharge
prompting consultation,
hence admission.
Weight: 153 kg
Height: 58 cm
BMI: 24.8 kg/m2
Normal
BP 120/80
HR 92
RR 19
T 36.8
O2 sat: 99% at room air
Fundic Height: 29 cm
FHT: 140s by doppler, RLQ
EFW by cupping method:
2600-2800 grams
Internal Examination:
Cervix fully dilated, fully
effaced, cephalic, St +2, (-)
BOW, clear
Urinalysis
Pus 0-2
RBC 0-3
Protein negative
Glucose negative
RDT: Nonreactive
HBsAg: Nonreactive
PELVIC ULTRASOUND (6/12/23)
• SINGLE LIVE UTERINE PREGNANCY OF 34 WEEKS
GESTATION BY FETAL BIOMETRY
• CEPHALIC PRESENTATION, BPS 8/8, EFW 2,148
GRAMS
• ULTRASONIC EDD 7/24/2023 +/- 2 WEEKS
G2P1 (1001) Pregnancy uterine 40 6/7 weeks Age of
gestation, Cephalic in labor
Plan: Vaginal Delivery
Final Diagnosis
G2P2 (2002) Pregnancy Uterine delivered term, cephalic,
to a live baby boy, AS 8,9 BW 2.7 kg, Ballard Score 38
weeks, AGA via Normal Spontaneous Delivery
*Baby is admitted at NICU
Awake, with alar flaring, grunting, retractions and
cyanosis minutes after delivery
A: Neonatal Pneumonia (Initial Impression)
P: For emergency intubation
Mechanical Ventilation
Start on ampicillin, gentamicin
Chest xray
Wet Reading:
Bowel loops at left chest cavity, Inappreciable Right Lung
mass, with mediastinal shift to the right
* Referred to Dr. Carpio (Surgery Dept)
* Ruled out pneumonia, ruled in Congenital
Diaphragmatic Hernia
* Emergency OR: Exploratory Laparotomy, Repair of
Congenital Diaphragmatic Hernia, Chest Tube
Thoracotomy Insertion, Left
CBC
Hgb 118
Hct 0.356
WBC 14.5
Plt 313,000
2. PERTINENT DATA
HISTORY OF PRESENT
ILLNESS
PHYSICAL
EXAMINATION
DIAGNOSTICS PREOPERATIVE DIAGNOSIS
DLB 26/M
G2P1 (1001)
Prenatal check-up:
Camiling HC 2x; PMD 10x
Chief complaint:
Labor pains
Past Medical History:
Unremarkable
Family History:
Unremarkable
Personal and Social History:
Unremarkable
OB History:
G1- NSD, live,Term, Health
center, Midwife assisted
G2 - Present Pregnancy
Gynecologic History:
Unremarkable
Few hours prior to
admission, patient had
labor pains increasing in
intensity associated with
watery vaginal discharge
prompting consultation,
hence admission.
Weight: 153 kg
Height: 58 cm
BMI: 24.8 kg/m2
Normal
BP 120/80
HR 92
RR 19
T 36.8
O2 sat: 99% at room air
Fundic Height: 29 cm
FHT: 140s by doppler, RLQ
EFW by cupping method:
2600-2800 grams
Internal Examination:
Cervix fully dilated, fully
effaced, cephalic, St +2, (-)
BOW, clear
Urinalysis
Pus 0-2
RBC 0-3
Protein negative
Glucose negative
RDT: Nonreactive
HBsAg: Nonreactive
PELVIC ULTRASOUND (6/12/23)
• SINGLE LIVE UTERINE PREGNANCY OF 34 WEEKS
GESTATION BY FETAL BIOMETRY
• CEPHALIC PRESENTATION, BPS 8/8, EFW 2,148
GRAMS
• ULTRASONIC EDD 7/24/2023 +/- 2 WEEKS
*No intraop pictures*
*Patch Repair of 5cm Diaphragmatic Hole
Surgery:
Left Posterolateral diaphragmatic defect. Herniation of
small and large bowel into the left hemithorax, t/c
Bochdalek Hernia, s/p Exploratory Laparotomy, Repair of
Congenital diaphragmatic hernia under General
Endotracheal Anesthesia, s/p Chest tube thoracostomy,
left
Chest Xray Post Op:
Wet Reading:
* Expanded Right lung, unexpanded left lung
Update Post Op
* Patient still intubated with CTT inserted, left
* 10 hours post op, patient had fever, 1 seizure episode
and reintubation
* Patient had subsequent desaturation despite manual
bagging
*Baby expired after 48 hours of life
Pediatric Final diagnosis:
Acute Respiratory Failure, Congenital Diaphragmatic
Hernia, Left, Neonatal Sepsis, s/p Exploratory
Laparotomy, Repair of Congenital Diaphragmatic Hernia,
s/p Chest Tube Thoracostomy Insertion, Left
CBC
Hgb 118
Hct 0.356
WBC 14.5
Plt 313,000
4. CONGENITAL DIAPHRAGMATIC HERNIA
• Communication between the abdominal and thoracic
cavities with or without abdominal contents in the
thorax
• Etiology is rarely traumatic and usually congenital.
• The defect may be at the esophageal hiatus (hiatal
hernia); paraesophageal, adjacent to the hiatus
(paraesophageal hernia; retrosternal (foramen of
Morgagni hernia); or at the posterolateral portion of
the diaphragm (Bochdalek hernia).
• In congenital diaphragmatic hernia (CDH) the
Bochdalek hernia accounts for up to 90% of the hernias
seen, with 80–90% occurring on the left side. The
Morgagni hernia accounts for 2–6% of CDH.
5. CONGENITAL DIAPHRAGMATIC HERNIA
Pathology and Etiology
• Although CDH is characterized by a structural diaphragmatic defect, a
major limiting factor for survival is the associated pulmonary
hypoplasia.
• Pulmonary hypoplasia is characterized by a reduction in pulmonary
mass and the number of bronchial divisions, respiratory bronchioles,
and alveoli.
6. CONGENITAL DIAPHRAGMATIC HERNIA
Epidemiology
• The incidence of CDH is between 1 in 2,000 and 1 in 5,000 live births
• Females affected twice as often as males.
• Defects are more common on the left (85%) and are occasionally bilateral (<5%).
• Most cases of CDH are sporadic, but familial cases have been reported.
• Associated anomalies have been reported in up to 30% of cases, including CNS lesions,
esophageal atresia, omphalocele, and cardiovascular lesions.
• CDH is recognized as part of several chromosomal syndromes: trisomies 21, 13, and 18
and Fryns, Brachmann–de Lange, Pallister-Killian, and Turner syndromes.
7. CONGENITAL DIAPHRAGMATIC HERNIA
Diagnosis and Clinical Presentation
• In >50% of cases, CDH can be diagnosed
on prenatal ultrasonography (US)
between 16 and 24 wk of gestation.
• US findings may include
polyhydramnios, chest mass,
mediastinal shift, gastric bubble or a
liver in the thoracic cavity, and fetal
hydrops.
• After delivery, a chest radiograph is
needed to confirm the diagnosis
8. CONGENITAL DIAPHRAGMATIC HERNIA
• Respiratory distress is a cardinal sign in babies with CDH
• It may occur immediately after birth, or there may be a “honeymoon” period of up to 48
hr during which the baby is relatively stable.
• Early respiratory distress, within 6 hr after birth, is thought to be a poor prognostic sign.
• Respiratory distress is characterized clinically by tachypnea, grunting, use of accessory muscles,
and cyanosis. Children with CDH may also have a scaphoid abdomen and increased chest wall
diameter.
• Bowel sounds may also be heard in the chest with decreased breath sounds bilaterally.
• The point of maximal cardiac impulse may be displaced away from the side of the hernia
if mediastinal shift has occurred.
• A chest radiograph and passage of a nasal gastric tube are usually sufficient to confirm
the diagnosis.
9. CONGENITAL DIAPHRAGMATIC HERNIA
Treatment
• In the delivery room, infants with respiratory distress should be rapidly stabilized
with endotracheal intubation.
• Arterial (preductal and postductal) and central venous (umbilical) lines are
mandated, as are a urinary catheter and nasogastric tube.
• A preductal arterial oxygen saturation (SpO2) value ≥85% should be the minimum goal
• Gentle ventilation with permissive hypercapnia reduces lung injury
• Routine use of inotropes is indicated in the presence of left ventricular
dysfunction.
• In infants with severe respiratory failure and hypoxemia, sedation and paralysis
may be required.
10. CONGENITAL DIAPHRAGMATIC HERNIA
Prognosis
• Overall survival of liveborn infants with CDH is 71%. Relative predictors of a poor prognosis include an
associated major anomaly, symptoms before 24 hr of age, severe pulmonary hypoplasia, herniation to the
contralateral lung, and the need for ECMO.
• The size of the defect appears to be the strongest predictor of morbidity.
• Gastroesophageal reflux disease (GERD) is reported in >50% of children with CDH.
• Intestinal obstruction
• Recurrent diaphragmatic hernia is reported in 5–20% in most series.
• Children with patch repairs are at highest risk.
• Children with CDH typically have delayed growth in the 1st 2 yr of life.
• Neurocognitive defects are common and may result from the disease or the interventions. The incidence of
neurologic abnormalities is higher in infants who require ECMO (67% vs 24% of those who do not).
• The abnormalities are similar to those seen in neonates treated with ECMO for other diagnoses and include transient
and permanent developmental delay, abnormal hearing or vision, and seizures