Severe Congenital Diaphragmatic Hernia With Trisomy 9: A Case Report and Review of the Literature.
amniocentesis
congenital diaphragmatic hernia
fetal ultrasonography
prenatal genetic testing
trisomy 9
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
accepted:
25
08
2022
entrez:
28
9
2022
pubmed:
29
9
2022
medline:
29
9
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36168364
doi: 10.7759/cureus.28395
pmc: PMC9506681
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e28395Informations de copyright
Copyright © 2022, Fuma et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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