A Case Series on Congenital Diaphragmatic Hernia: Antenatal Diagnosis and Prediction of Postnatal Outcomes

Case RepoRtdiagnosis in cases of CDH has advanced beyond traditional karyotyping in recent years.Exome sequencing and chromosomal microarrays help us understand the genetic causes underlying CDH.9,10 Next to ruling out additional anomalies, the severity of the illness is assessed using ultrasonography as a first-line tool.Among the parameters assessed by ultrasound, such as gestation at diagnosis, the position of the liver and stomach, contralateral lung size, polyhydramnios, and cardiac ventricular size, the most validated method for the prediction of postnatal outcome is the measurement of the lung-to-head ratio (LHR), which was first described by Metkus et al. 11 This entails taking a contralateral lung size measurement at the level of the four-chamber view of the heart. IntroductIonAbout 1 in 3,300 live newborns have congenital diaphragmatic hernias (CDH), which are defects in the diaphragm that consequently allow abdominal organs to herniate into the thoracic region. 1 Of the instances, 75% include the left hemidiaphragm, 15% involve the right side, and 10% involve both sides. 2 Although the exact pathogenesis of CDH is unknown, aberrant diaphragm development, occurring between 6 and 10 weeks of gestation, is considered to be the most common cause.While the majority of cases occur sporadically, environmental exposures such as alcohol, smoking, vitamin A deficiency, thalidomide, and anticonvulsants have all been linked to the condition.[3][4][5] The key predictors of morbidity and death for the affected individuals are pulmonary hypoplasia and pulmonary hypertension, which are sequelae of the resultant aberrant lung development due to CDH.Over the previous three decades, survival has improved from less than 50% to over 80% due to advancements in neonatal management.6 However, the chances of survival are variable as per severity and care received.Congenital diaphragmatic hernias can occur alone or in conjunction with other structural abnormalities, the latter of which has a dismal prognosis.Forty to sixty percent of infants born alive with CDH have associated abnormalities, most commonly in the renal, gastrointestinal, cardiovascular, and central nervous systems.7,8 Aneuploidies like trisomy 13, 18, 21, XO, partial trisomy 5, 20, tetraploidy 21, tetrasomy 12p, and syndromes such as Pierre