南非豪登省产前保健提供者对遗传咨询服务的利用情况

原文

INTRODUCTION: Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low- and middle-income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain suboptimal. OBJECTIVE: To assess the utilisation of genetic counselling services and perceptions of genetic counselling among prenatal healthcare providers in Gauteng Province, South Africa. METHOD: An electronic survey was distributed to prenatal healthcare providers working in public and private healthcare sectors in Gauteng. The survey assessed access to genetic counselling services, referral practices, knowledge of referral indications, understanding of the genetic counsellor's role, and perceived barriers to referral. Fifty-four respondents were included. RESULTS: Seventy-four percent of participants reported being able to refer to patients for genetic counselling, but only 57% had utilised the service. No participant correctly identified all appropriate referral indications, and only 24% understood the scope of practice of genetic counsellors. Only 6% felt confident in their knowledge of genetic counselling. CONCLUSION: Although genetic counselling services are available and utilised in Gauteng, they are not accessed to their full potential. Improved education and clearer referral guidance are required to optimise prenatal genetic care in this setting.