Spinal muscular atrophy (SMA) is a lower motor neuron disease characterized by muscle atrophy and progressive muscle weakness due to the degeneration and loss of anterior horn cells of the spinal cord. For a long time, it was a disease that received only care in hospitals and at home as a disease without cure. SMA is caused by the deletion or mutation of the survival of motor neuron 1 (SMN1) gene, therefore only a small amount of functional full-length survival motor protein (SMN) protein is produced from the SMN2 gene. There are three disease-modifying therapies that increase the production of the SMN protein: nusinersen, a nucleic acid drug with an exon inclusion mechanism; risdipram, a small molecule-drug with a similar mechanism; and onasemnogene abeparvovec, an adeno-associated virus 9 vector containing the SMN gene. Each drug was listed on the national health insulance (NHI) drug price based on the success of global clinical trials in which the author acted as the principal investigator. With the development of these effective therapeutic agents, early diagnosis and early treatment are essential. By administering the drug before the symptoms appear, it is possible to suppress or reduce the symptoms of SMA, and newborn screening at a nationwide level is expected to realized.

Transient neonatal pustular melanosis (TNPM) is characterized by aseptic pustules scattered throughout the body since birth, leaving pigmentation and resolving spontaneously. A few cases of TNPM have been reported in Japan, most of which were difficult to be differentially diagnosed and subsequently required therapeutic intervention such as topical treatment or the administration of antibiotics.

Herein, we report a case of a male infant weighing 3,206 g at 39 weeks of gestation who was presented with disseminated pustules throughout his body since birth. Blood tests and pustule culture tests on admission revealed no pustule formation owing to bacterial infection, leading to the suspicion of TNPM. From day 4 onward, the pustules gradually disappeared until day 9, with some pigmentation. Accordingly, TNPM was diagnosed. TNPM has a good prognosis that can be followed up without treatment. Nevertheless, neonatologists and pediatricians should be aware of TNPM.

When there is an increased risk of fetal abnormalities, we offer prenatal diagnostic examinations to accurately assess the clinical condition. Due to advances in diagnostic techniques, including the rapid development of molecular genetic techniques, prenatal diagnostic approaches have become more diverse. Now that prenatal diagnosis is widely offered in many institutions, ethical issues have arisen. Pregnant women receiving prenatal diagnostic procedures may experience increased anxiety and even turn too readily to abortion in the setting of uncertainty, due to lack of adequate knowledge, and thereby later experience regret.

Therefore, a high degree of technical expertise is important for providing meaningful responses to the psychosocial and ethical concerns raised by prenatal diagnosis. In addition, various aspects of prenatal diagnosis are associated with a complex range of psychological challenges, and it is necessary to support self-determination whether or not patients elect to undergo the examinations. Also, pregnant women seeking prenatal diagnosis must have detailed information and sufficient genetic counseling.