Cureus

. 2022 Aug 25;14(8):e28395.

 doi: 10.7759/cureus.28395. eCollection 2022 Aug. https://pubmed.ncbi.nlm.nih.gov/36168364/

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 expand

• PMID: 36168364
• PMCID: PMC9506681
• DOI: 10.7759/cureus.28395

Free PMC article

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.

Copyright © 2022, Fuma et al.