Indian Journal of Pathology and Microbiology
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Year : 2016  |  Volume : 59  |  Issue : 2  |  Page : 251-252
Prenatal diagnosis of unilateral agenesis of diaphragm and associated anomalies

1 Department of Pathology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania, Europe
2 Department of Pathology, Iuliu Hatieganu University of Medicine and Pharmacy; Imogen Research Centre, Cluj-Napoca, Romania, Europe
3 Department of Obstetrics and Gynaecology, Iuliu Hatieganu University of Medicine and Pharmacy; Imogen Research Centre, Cluj-Napoca, Romania, Europe

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Date of Web Publication9-May-2016

How to cite this article:
Morosanu C, Cioca A, Stamatian F, Crisan D. Prenatal diagnosis of unilateral agenesis of diaphragm and associated anomalies. Indian J Pathol Microbiol 2016;59:251-2

How to cite this URL:
Morosanu C, Cioca A, Stamatian F, Crisan D. Prenatal diagnosis of unilateral agenesis of diaphragm and associated anomalies. Indian J Pathol Microbiol [serial online] 2016 [cited 2023 Oct 2];59:251-2. Available from:


Congenital diaphragmatic agenesis is a rare type of diaphragmatic defect with an incidence of 1:250.000 births.[1] It can be unilateral or bilateral, and it is characterized by the herniation of the abdominal viscera into the thorax.[2]

A 31-year-old female, with a history of primary infertility, conceived after in vitro fertilization therapy. Consanguinity was denied, and there was no history of drug abuse or diabetes mellitus. At 22 gestational weeks, prenatal ultrasound revealed a single live fetus, with a superior labial cleft, left diaphragmatic hernia, and slight rotation of the heart toward the right. The amniotic fluid index indicated polyhydramnios. Cytogenetic analysis was performed and revealed a normal female karyotype

(46, XX).

The parents were informed of the ultrasonography findings, and they opted for the termination of the pregnancy.

Postmortem examination of the fetus showed facial dimorphism including superior labial cleft, accessory tragus of the right external ear, hypertelorism, and broad flat nose. Examination of the thoracic cavity revealed herniation of the left hepatic lobe, loops of the small intestine, stomach, and spleen. The left diaphragm was absent, the left lung and left heart were hypoplastic [Figure 1]. In addition, the gallbladder was absent, and the intestines were malrotated.
Figure 1: (a) Postmortem examination of the fetus revealed herniation of the left liver lobe in the thorax. (b) The spleen and the stomach were in the thorax, while the left lung was hypoplastic. (c) The presence of the right diaphragm, while the left is absent

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Diaphragm embryology begins in the third week after fertilization from four primordia: Septum transversum, pleuroperitoneal folds, mesentery of the esophagus, and cervical somite myotomes (for the development of the muscle cells of the diaphragm). These anatomical elements are modulated in order to complete body cavities. Due to embryonic folding, the septum transversum is positioned in the intraembryonic cavity and divides it into the pleuropericardial cavity and the peritoneal cavity, but maintaining communication through the pleuropericardial canals.[3] Diaphragm agenesis results from the failure of full development of one of these elements. Congenital diaphragmatic defects are sporadic or as a component in various syndromes, some of them with chromosomal anomalies.[4] Our case was tested for a certain genetic imprint, but the karyotype was normal.

Although with a very low incidence, diaphragm agenesis can be variable in mortality and morbidity aspects. Immediate postpartum consequences can be seen as a result of pulmonary hypoplasia, congenital diaphragmatic hernia, and lung failure. The degree of pulmonary hypoplasia depends on the volume of herniated viscera, but the presence of the liver in the thorax seems to be correlated with the worst prognosis.[5] In most of the cases, congenital diaphragmatic defects are accompanied by cardiovascular, skeletal, neural, genitourinary, and gastrointestinal system anomalies which also contribute to a poor prognosis. Furthermore, the presence of polyhydramnios decreases the survival rate at 11%.[2]

Besides the facial dimorphism, malrotation of the intestines, heart and lung hypoplasia that we have found in our case, we observed the absence of the gallbladder. There is only one report in English literature of gallbladder agenesis associated with a diaphragmatic defect, but, in that case, it was a bilateral agenesis of the diaphragm.[2] Agenesis of the gallbladder is a rare finding, and it may be the consequence of maldevelopment of the gallbladder bud.

In conclusion, agenesis of the diaphragm is a rare anomaly which generally carries a grim prognosis. An early antenatal diagnosis is important because the parents can decide the termination of the pregnancy at an early stage, with a diminished physical and psychological stress.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Harjai MM. Rare congenital diaphragmatic defects. In: Molloy E, editor. Prenatal to Congenital Diaphragmatic Hernia – Childhood Management and Outcomes. Croatia: InTech; 2012.  Back to cited text no. 1
Karadeniz L, Guven S, Atay E, Ovali F, Celayir A. Bilateral diaphragmatic defect and associated multiple anomalies. J Chin Med Assoc 2009;72:163-5.  Back to cited text no. 2
Wells LJ. Development of the human diaphragm and pleural sacs. Contrib Embryol 1954;35:107-34.  Back to cited text no. 3
Roy M, Chikkannaiah P, Bali A. Congenital diaphragmatic hernia with hypoplastic lungs, heart, and additional anomalies: A case of? Fryns syndrome. J Dr NTR Univ Health Sci 2013;2:130-2.  Back to cited text no. 4
Paek BW, Danzer E, Machin GA, Coakley F, Albanese CT, Filly RA. Prenatal diagnosis of bilateral diaphragmatic hernia: Diagnostic pitfalls. J Ultrasound Med 2000;19:495-500.  Back to cited text no. 5

Correspondence Address:
Andreea Cioca
Department of Pathology, Iuliu Hatieganu University of Medicine and Pharmacy, Street Clinicilor No. 3.5, Cluj-Napoca, 400 006, Romania
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.182014

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