[Specific examinations for infants and children]

There are many diseases specific to childhood. Therefore, there are several specific examinations which are not performed in adults. In this article, we introduce some examinations specific to the neonatal period. Newborn mass-screening using tandem mass spectrometry is conducted to diagnose congenital metabolic error before onset early after birth and minimize the influence of disturbance. Tandem mass spectrometry is performed to detect amino acid metabolism disturbance, urea cycle disorder, organic acid metabolism disturbance, and fatty acid metabolism disturbance. Newborn auditory screening has commonly been conducted since the importance of early detection was proposed in the United States, making it possible to simply perform screening in a large number of patients using automatic analyzers. In Japan, the automated auditory brainstem response (Auto ABR) and otoacoustic emissions (OAE) have commonly been employed. Prenatal care consists of genetic and morphological tests. For morphological tests, screening is initially performed using ultrasonography. When an abnormality is suspected, closer echography and target organ/disease-based fetal MR/CT are used. With these examinations, cerebrospinal anomalies, congenital heart disease, occupying lesions, and bone diseases are diagnosed.