The genetic counseling profession is continuing to develop globally, with countries in various stages of development. In some, the has been existence for decades and increasingly recognized as an important provider allied health, while others it just beginning. this article, we describe current global landscape specialty field's professional Using examples United States, Kingdom, Canada, Australia, South Africa, Asia, highlight following: (a) status training programs, (b) availability...

Abstract Aim Fetal exposure to gestational diabetes mellitus ( GDM ) is said alter fetal growth and increase the risk of macrosomia. However, little research on exists in African populations. This study aimed assess longitudinal neonatal birth measures among Black babies exposed . Methods Pregnant women (Soweto, South Africa) enrolled into a cohort were followed up with repeated ultrasounds. At 24–28 weeks’ gestation 2‐h 75 g oral glucose tolerance test was performed diagnosed using World...

Gestational age estimation by ultrasonography is the gold standard for dating pregnancies. However, availability of prenatal in low-to-middle-income countries limited. This study aimed to assess reliability and validity last menstrual period (LMP) as a gestational method among women Johannesburg, South Africa.A total 741 pregnant were enrolled into longitudinal (June 2013 July 2016). was determined LMP ultrasonography. Differences ultrasound-based LMP-based estimates assessed according...

Over the past decade prevalence of gestational diabetes mellitus (GDM) has increased rapidly in both developed and developing countries become a growing health concern worldwide. A recent systematic review highlighted paucity data available on potential burden GDM Africa, which was emphasised by fact that only 11 % African were represented review. In South remains unknown, although one would estimate it to be high due urbanisation obesity epidemic. addition, association between physical...

Summary A critical complication of factor VIII ( FVIII ) replacement therapy in Haemophilia HA treatment is inhibitor development. Known genetic factors predisposing to development include F8 gene mutations, ethnicity, a family history inhibitors and haplotype mismatch. The aim this study was characterize correlate these cohort South African patients. This retrospective that included 229 patients involved the analysis patient files, molecular clinical databases haplotype. Of patients, 51%...

Background. Germline pathogenic mutations in cancer susceptibility genes result inherited syndromes. In the Afrikaner population of South Africa (SA), three founder BRCA that lead to hereditary breast and ovarian syndrome (HBOCS) have been identified. Objectives. To investigate uptake type molecular testing performed on patients for HBOCS, determine prevalence as well non-founder study population, analyse utility two mutation prediction models (Breast Ovarian Analysis Disease Incidence...

Inhibition of fatty acid (FA) oxidation has been shown previously to lower blood glucose levels acutely in diabetic rats. However, the longer term effects FA inhibition have not determined. This study examines effect for 3 weeks on carbohydrate metabolism rats rendered with streptozotocin (STZ). STZ treated (50 mg/kg) were randomized into groups: a non-treated group and 2 groups either 12.5 or 25 mg/kg/day Etomoxir (a specific carnitine palmitoyl transferase inhibitor) weeks. The had ad...

Background: Although cystic fibrosis (CF) is a common genetic condition, counselling services appear to be underutilised by affected families. The aim of this study was determine the uptake and mutation testing for CF relatives individuals, impact introducing hospital-based services.Method: files 153 families seen staff Division Human Genetics, School Pathology, University Witwatersrand, National Health Laboratory Service (NHLS) in Johannesburg, were retrospectively reviewed from 1990 2006,...

Aim Breast cancer is the most prevalent in South African females, making up 27.1% of all histologically diagnosed cancers 2020. Although genetic technology and awareness counselling have improved, services Africa remain largely inaccessible. Clinical are only formally available four provinces few outreach programmes exist for small towns cities. Until 2019, were unavailable North West province; however, since then, counsellors from National Health Laboratory Service University Witwatersrand...

Interactions between the MAOA uVNTR and rearing environment are suggested to influence developmental manifestations of childhood internalizing externalizing behavior. However, few studies in literature have included continental African children, or focused on non-clinical samples. We explored main interactive effects (high low activity alleles) Black South male (n = 478) female 540) children who were part longitudinal Birth Twenty Plus cohort. Historical data birth weight, gestational age at...