Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.

Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric subspecialties, it is not yet routinely used by general pediatric hospitalists. We aim to investigate the impact of exome sequencing in sequencing-naive children suspected of having monogenic disorders while receiving inpatient care.

Outcome of pregnancies associated with marked gestational thrombocytopenia.

The purpose of this prospective study was to investigate the outcome of pregnancies associated with marked gestational thrombocytopenias (< 100,000/mm3) including postpartum resolution and neonatal influence. Over a period of 18 months, 20 cases of thrombocytopenia were observed; of them 19 were diagnosed as gestational thrombocytopenia with platelet values of < 100,000/mm3. Fifteen women returned to a normal platelet count within two weeks after delivery and four within four weeks.