The implementation and utility of clinical exome sequencing in a South African infant cohort.

Genetic disorders are significant contributors to infant hospitalization and mortality globally. The early diagnosis of these conditions in infants remains a considerable challenge. Clinical exome sequencing (CES) has shown to be a successful tool for the early diagnosis of genetic conditions, however, its utility in African infant populations has not been investigated.

Characteristics of infants exposed to maternal tuberculosis and chemoprophylaxis using 3 months of isoniazid and rifampicin.

Background: Although the clinical features of infants with congenital tuberculosis (TB) are well established, the features of infants exposed to TB in utero including those who are non-infected, are not well reported. TB-exposed infants are at risk of developing TB post-delivery, and chemoprophylaxis, usually isoniazid, is therefore recommended. Isoniazid/rifampicin combined is an alternative, but little is known about its effectiveness.