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2000-01-07-05 Answer of case of the week #16 © de Catte www.TheFetus.net

Answer to case #16

January 7-21, 2000

Submitted and discussed by Luc de Catte, MD, Brussels Belgium

The history of this patient is unremarkable. At 28 weeks of gestation, she was referred to the labor ward by her physician because of a non-reactive stress test.  An ultrasound scan performed at that time revealed the images and the video clip shown.

There is also a  364 kB video available

Findings

Most of the people noticed indeed the fetal ascites, the hydrothorax and the skin edema. In addition, as clearly visualized on the video there is a huge diaphragmatic hernia on the right side, and a partial herniation of the liver into the thorax. This causes a shift of the heart to the left lateral side. The fetus died intrapartum. Pathological examination confirmed the right-sided diaphragmatic hernia with herniated fetal liver (picture).

Diaphragmatic hernia, right-sided 

The prevalence of diaphragmatic hernia is approximately 0.25-0.3:10,000 births worldwide1,2. There are 4 major types of diaphragmatic hernia, of which the posterolateral on the left side (Bochdaleck) is the most common (±80%). Right-sided diaphragmatic hernia occurs is about 20% of the cases. The etiology is poorly understood. Diaphragmatic hernia is usually multifactorial in nature, although rarely an autosomal form with familial occurrence has been observed.

Diagnosis

Deviation of the cardiac axis to the right and the presence of an echogenic area (stomach bubble) in the chest usually suggest the diagnosis of left-sided diaphragmatic hernia. Sometimes the presence of peristalting intestines may be observed. Nevertheless, the diagnosis can be difficult or even impossible in cases of sliding hernias. Right-sided hernias cause deviation of the heart to the left. Sometimes, the herniated intrathoracic liver is difficult to differentiate from pulmonary tissue3.

Associated anomalies

The presence of a diaphragmatic hernia should always direct the ultrasound examination to the detection of other anomalies as 23% to 50% of the cases are either associated with other structural defects (especially cardiovascular, gastrointestinal and genitourinary defects), syndromes (e.g. Frijns syndrome, pentalogy of Cantrell, Klippel-Feil syndrome, de Lange syndrome, connective tissue disorders) or chromosomal abnormalities (e.g. trisomy 21, 18, 13, duplications, deletions). Geary4 calculated a mean risk of chromosomal malformations of 15% in a compiled series of 406 cases (range: 4-34%).

Prognosis

The prenatal sonographic diagnosis of diaphragmatic hernia allows for preparation for a critically ill newborn and aids in family counseling.

The overall survival rate has been reported as low as 14%. The prognosis is largely depending on the associated malformations. However, in cases of isolated diaphragmatic hernia, poor prognostic factors include:

·        a large defect,

·        dilated intrathoracic stomach,

·        diagnosis before 25 weeks of gestation,

·        the intrathoracic presence of liver,

·        hydrops fetalis and

·        the association with other anomalies5

Diagnosis before 24 weeks of gestation results is a survival rate between 0 and 31%. Additional pejorative factors include prematurity, the need for a patch at repair and the occurrence of a postnatal intracranial hemorrhage6.

On the other hand, an isolated left-sided diaphragmatic hernia diagnosed after 24 weeks has shown the best prognosis. The survival rate is between 28 and 60%4. In a prospective study, Harrison observed 58% mortality for potentially correctable diaphragmatic hernia diagnosed before 24 weeks’ gestation, despite optimal care available after birth7. Kaiser et al. reported a survival rate of 80% in isolated diaphragmatic hernia, and a mortality rate of 89% if diaphragmatic hernia is associated with anomalies8. The main problem is pulmonary hypoplasia, which remains difficult to manage even with the advances in neonatal care (ventilatory support, ECMO). Prenatal assessment of lung hypoplasia has been attempted by several sonographic methods, even by 3D volume calculation, but the results do not differ between survivors and non-survivors9.

Fewer data are available on the right-sided diaphragmatic hernia. This lesion however carries an unfavorable prognosis. The presence of the liver in the thorax can interfere with normal umbilical blood flow, resulting in cardiac failure and fetal hydrops, as in this case. Further, localized edema of the head and neck may result from obstruction of the superior vena cava by abnormal mediastinal structures10. Although rodent experiments suggest unique mechanisms in the formation of right-sided or left-sided diaphragmatic hernia, there is no difference in the frequency and nature of the associated malformations11. In their retrospective study of 301 patients, multiple malformations occurred in respectively 10 and 7.5% and cardiac malformation in respectively 10 and 8.5% of the cases of right-sided or left-sided diaphragmatic hernia . This is in contrast with the data of Khwaja12, who found associated malformations in 10 out of 13 right-sided diaphragmatic hernia.

Survivors may show an increased risk of morbidity, as there are higher incidences of gastrointestinal reflux, feeding dysfunction and bronchopulmonary dysplasia at 1 year of age. In addition, a subsequent developmental delay and seizures have been reported4.

Prevent pulmonary hypoplasia is the cornerstone of the management, not the surgical repair of a diaphragmatic hernia in the neonate. Neonatal survival has not significantly increased due to various ways of respiratory support. Neither ECMO, nor conventional mechanical ventilation or high-frequency oscillatory ventilation or a combination of these techniques has resulted in a higher survival rate13,14. Survival is better in infants who underwent successful repair without ECMO than those who required ECMO rescue pre- or postrepair6. Nonstandard ventilatory support, ventilation conditions with low pressure and individualized frequency, may increase survival rates over hyperventilation and alkalinization15.

Prenatal surgery

Open fetal surgery has largely been abandoned due to the low success rate and high maternal morbidity figures. New experimental fetoscopic methods have been developed to overcome the problem of lung hypoplasia and or immaturity16 and should allow the surgeon to temporary occlude the trachea to enhance lung growth before birth17.

There is currently an endoscopic trial conducted by Dr. Ruben Quintero who has received approval to perform minimally-invasive (percutaneous, 3-mm incision) intraluminal tracheal occlusion in 10 patients with CDH. The criteria for inclusion in the study are as follows:

Inclusion criteria:

a) Absence of other major congenital anomalies (e.g., congenital heart disease).

b) Normal karyotype

c) Posterior placenta

d) Thin/non-obese complexion (<180 lbs.)

e) Local patient, or patient willing to remain in Tampa for the duration of the pregnancy

f) Gestational age at time of diagnosis: less than 25 weeks of gestation

g) Ratio of right lung area to head circumference <1.33

Exclusion criteria 

a) Patients unwilling to participate in the study or to be managed by his group here in Tampa

b) Presence of major congenital anomalies

c) Abnormal karyotype

d) Ruptured membranes

e) Chorioamnionitis

f) Diagnosis made after 25 weeks gestation and a right lung area to head circumference ratio >1.33 

References

1. Fetal disorders: Diagnosis and management. Editor : B.M.Petrikovsky. Wiley-Liss 1999.

2. The fetal thorax. RB Goldstein. In: Diagnostic Obstetric Ultrasound. Editors : John P McGahan, Manuel Porto. JB Lippincott Company, 1994.

3. Diagnosis and differentiation of congenital diaphragmatic hernia from other noncardiac fetal masses. Kasales CJ, Coulson CC, Meilstrup JW et al. Am J Perinat 1998; Vol 15: 623-8.

4. Perinatal outcome and prognostic factors in prenatally diagnosed congenital diaphragmatic hernia. Geary MP,Chitty LS, Morrison JJ et all. Ultrasound Obstet Gynecol 1998; 12:107-111.

5. Congenital diaphragmatic hernia: can prenatal ultrasonography predict outcome? Dommergues M, Louis-Sylvestre C, Mandelbrot L et all. Am J Obstet Gynecol 1996; 174: 1377-81.

6. Survival of patients with congenital diaphragmatic hernia during the ECMO era: an 11-year experience. Semakula N, Stewart DL, Goldsmith LJ, et al. J Pedriatr Surg 1997; 32:1683.

7. A prospective study of the outcome for fetuses with diaphragmatic hernia. Harrison MR, Adzick NS, Estes JM etall. JAMA, 1994. 271/382-4.

8. A population-based study of congenital diaphragmatic hernia: impact of assoicated anomalies and preoperative blood gasses on survival. Kaiser JR, Rosenfeld CR. J Pediatr Surg 1999; 34:1196-202.

9. Prenatal diagnosis of congenital diaphragmatic hernia and perinatal cae: assessment of lung hypoplasia. Kamata S, Hasegawa T Ishikawa S et al. Early Human Dev 1992; 29:375-9.

10. Right-sided diaphragmatic hernia associated with superior vena cava syndrome. Giacoia GP, Am J Perinat 1994; 11: 129-21.

11. Congenital diaphragmatic hernia: does the side of the defect influence the incidence of associated malformations. Losty PD, Vanamo K, Rintala RJ et all. J Pediatric Surgery 1998; 33: 507-10.

12. Congenital right-sided diaphragmatic hernia/ a heterogeneous lesion. Khwaja MS, al-Arfaj AL, Dawoodu AH. J R Surg Edinb 1989; 34: 219-22.

13. Congenital diaphragmatic hernia, a tale of two cities: The Boston experience. Wilson JM, Lund DP, Lillehei CW et all. J Pediatr Surg 1997; 32:401.

14. Congenital diaphragmatic hernia, a tale of two cities: The Toronto experience. Azarow K, Messineo A, Pearl R et all. J Pediatr Surg 1997; 32:395.

15. Detrimental effects of standard medical therapy in congenital diaphragmatic hernia. Kays DW, Langham Mr, Ledbetter DJ et all. Ann Surg 1999; 230:340-8.

16. Fetal lung maturation in congenital diaphragmatic hernia. Moya et al, Am J Obstet Gynecol 1995; 173:1401-5.

17. Correction of congenital diaphragmatic hernia in utero IX: fetuses with poor prognosis (liver herniation and low lung-to-head ratio) can be saved by fetoscopic temporary tracheal occlussion. Harrison M, Mychaliska GB, Albanese CT et all. J Pedriat Surg 1998; 33: 1017-22.

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