Prenatal Diagnosis of Congenital Diaphragmatic Hernia with Mosaicism Level 1 of Chromosomes 17q and 18q in Iran: a case report

Congenital diaphragmatic hernia (CDH) is a common birth defect with high mortality and morbidity and is defined as the protrusion of abdominal contents into the chest cavity through an abnormal opening in the diaphragm of the fetus or infant. This abnormality is caused by multiple factors, including both genetic and environmental components, and can also be associated with several syndromes. Among the chromosomal abnormalities associated with CDH, trisomy 21, 18, and 13 are the most common. Also, complex chromosomal aberrations such as mosaicism have been reported. We present a case of prenatally diagnosed CDH with level 1 mosaicism of chromosomes 17q and 18q in a 34-year-old Iranian woman. The diagnosis was made at 16 weeks of gestation using ultrasound and confirmed by amniocentesis. In light of the presence of mosaicism of chromosomes in this instance, it is suggested that a potential genetic factor may play a role in the emergence of CDH, necessitating additional research. This case underscores the significance of genetic testing in the prenatal diagnosis of CDH and emphasizes the necessity for comprehensive counseling for affected families.