Prevalence of karyotype alterations in couples with recurrent pregnancy loss in a tertiary center in Brazil.

Objective: To assess the prevalence and type of chromosomal abnormalities in Brazilian couples with recurrent pregnancy loss (RPL) and compare the clinical characteristics of couples with and without chromosome abnormalities.

Methods: We assessed the medical records of 127 couples with a history of two or more miscarriages, referred to a tertiary academic hospital in Belo Horizonte, Brazil, from January 2014 to May 2023. Karyotype was generated from peripheral blood lymphocyte cultures, and cytogenetic analysis was performed according to standard protocols by heat-denatured Giemsa (RHG) banding.

BH deficiency identified in a neonatal screening program for hyperphenylalaninemia.

Objectives: To show the general prevalence and to characterize tetrahydrobiopterin (BH) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais.

Methods: Descriptive study of patients with BH deficiency identified by the Neonatal Screening Program of the State of Minas Gerais.

Results: The prevalence found was 2.