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Case Reports
. 2022 Aug 25;14(8):e28395.
doi: 10.7759/cureus.28395. eCollection 2022 Aug.

Severe Congenital Diaphragmatic Hernia With Trisomy 9: A Case Report and Review of the Literature

Kazuya Fuma  1 , Tomomi Kotani  2 , Noriyuki Nakamura  1 , Takafumi Ushida  1 , Hiroaki Kajiyama  1
Affiliations
Case Reports

Severe Congenital Diaphragmatic Hernia With Trisomy 9: A Case Report and Review of the Literature

Kazuya Fuma et al. Cureus. .

Abstract

Congenital diaphragmatic hernia (CDH) is known to be complicated with various chromosomal abnormalities. However, the grade of pulmonary hypoplasia of CDH complicated by trisomy 9 is not known. This information is essential to the mother who has had a fetus with the same complication. We report a case of severe CDH with trisomy 9. The fetus had fetal growth restriction and multiple anomalies, including severe left CDH (observed/expected lung-to-head ratio 13.7%, liver-up, stomach grade 3 in Kitano classification), mild ventriculomegaly, low-set ear, rocker bottom, and single umbilical artery. Chromosomal test by amniocentesis showed a karyotype of 47,XX,+9. The neonate was born alive at 34 weeks but died 49 minutes after birth. In the literature review, this case and seven cases of complete trisomy 9 had CDH, and four of them were explained as "large" or "severe" CDH. In conclusion, trisomy 9 might be occasionally complicated by severe CDH.

Keywords: amniocentesis; congenital diaphragmatic hernia; fetal ultrasonography; prenatal genetic testing; trisomy 9.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. The 2D sonographic image of the fetal chest (horizontal section)
Congenital diaphragmatic hernia with herniation of the stomach (S) more than halfway past the mid-line (dotted line). The heart (arrows) was shifted into the right thoracic cavity. The right lung was compressed and shrinking (arrowheads).
Figure 2
Figure 2. The 2D sonographic image of the fetal head (horizontal section)
Mild enlarged atrial width (caliper, 11mm) is shown
Figure 3
Figure 3. The 4D scan image showing a low-set ear
Figure 4
Figure 4. The result of G-banding by amniocentesis
The arrow shows chromosome 9
See this image and copyright information in PMC

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