First Trimester Cystic Hygroma: Herald to Early Diagnosis of Congenital Diaphragmatic Hernia

Abstract

The early diagnosis of in utero congenital diaphragmatic hernia (CDH) allows a thorough evaluation for other morbidities that may be associated with CDH. Our patient was referred to us with a fetus at 13 weeks gestational age with a thick nuchal translucency. Our team performed a transvaginal ultrasound that revealed a large cystic hygroma, a heart displaced to the right, and a heterogeneous mass with peristalsis in the left chest. The fetus was diagnosed with CDH. The patient received genetic counseling after which she requested and underwent chorionic villus sampling. The early diagnosis of CDH allows for a timely intervention with the improved management of pre-natal and post-natal care. Better neonatal management is pivotal in providing a multidisciplinary consultation approach in order to furnish accurate counseling and prognostic information for the patient.