International Newborn Screening: Where Are We in Saudi Arabia?

Newborn screening (NBS) programs are believed to play an important role in the decrease of infant mortality rates in many countries. This is achieved through offering early detection and treatment of many genetic as well as metabolic disorders prior to the onset of symptoms. Our paper examines NBS across seven diverse nations: Saudi Arabia, the United States, Japan, Singapore, Canada, Australia, and the United Kingdom. This paper discusses the diseases screened for by each country, latest additions, as well as future recommendations, when applicable. Employing a comparative approach, we conducted a comprehensive review of the most recent published literature on NBS programs in each country and subsequently examined their latest implemented NBS guidelines as outlined on their respective official government health sector websites. We then reviewed the economic feasibility of each of these programs and factors that affect implementation and overall benefit. While all six countries employ well-developed programs, variations are observed. Those variations are mainly attributed to disparities in access, resource scarcity, financial availability, as well as ethical and cultural considerations. From a local perspective, we recommend conducting further population-based studies to assess the epidemiological data in relation to the disease burden on the country's economy. Moreover, we recommend updating national and international guidelines to contain a more comprehensive approach on policies, operation, and sustainability to deliver a service through the lens of value-based healthcare.

A native mitral valve mass beyond imagination.

The authors report a case of a patient with a history of IgA nephropathy that, during the admission for pneumonia, was found to have an incidental finding of a huge mitral valve (MV) mass on transthoracic echocardiography. The differential diagnosis was challenging because the clinical scenario raised the suspicion of possible infective endocarditis and the imaging features were suggestive of a myxoma or vegetation. The patient underwent urgent excision of the mass with MV replacement due to the high risk of embolism. Intraoperative findings were consistent with clot or vegetation. Pathology result of thrombus was beyond our imagination and at the best of our knowledge one case only has been reported. Awareness about native MV thrombosis and its etiologic factors, workup, and management is key for better medical and surgical management planning because this condition is extremely rare and challenging in the clinical and imaging arena.

A Ping Pong Ball in the Left Ventricle.

Diagnosing cardiac masses, especially those related to cardiac tumors, is often challenging in clinical practice. Though myxomas are the most common and well-known benign cardiac tumors, other rare and often-neglected tumors can be difficult to diagnose. In this case report, the authors describe a left ventricular cardiac mass with unique and striking imaging features.