Identifying the essential knowledge and skills for Neonatal-Perinatal Medicine: a systematic analysis of practice.

The knowledge and skills expected for board certification in Neonatal-Perinatal Medicine (NPM) should reflect the clinical practice of neonatology. First, a 14-member panel of practicing neonatologists, convened by the American Board of Pediatrics (ABP), drafted a practice analysis document which identified the practice domains, tasks, knowledge, and skills deemed essential for clinical practice. NPM fellowship program directors provided feedback via online survey resulting in revisions to the document. During the second phase of the project, the panel organized testable knowledge areas into content domains and subdomains to update the existing ABP NPM content outline. All ABP board-certified neonatologists were asked to review via online survey, and results were used to guide final revisions to the content outline. The NPM practice analysis document and the updated NPM content outline should serve as helpful resources for educators, trainees, and practicing neonatologists.

Respiratory failure in a term infant with cis and trans mutations in ABCA3.

A full-term female neonate presented with persistent respiratory failure and radiologic studies consistent with surfactant deficiency. Sequencing of the ATP-binding cassette transporter A3 gene (ABCA3) revealed three mutations: R280C, V1399M and Q1589X. The infant underwent bilateral lung transplantation at 9 months of age and is alive at 3 years of age. Parental sequencing demonstrated that two of the mutations (R280C and Q1589X) were oriented on the same allele (cis), whereas V1399M was oriented on the opposite allele (trans). As more than one mutation in ABCA3 can be present on the same allele, parental studies are needed to determine allelic orientation to inform clinical decision making and future reproductive counseling.