Retrospective analysis of birth HIV PCR testing and follow-up of positive HIV PCR results in Nelson Mandela Bay Health District

BACKGROUND HIV infection contributes significantly to infant morbidity and mortality, especially in high-prevalence, low-income countries. In view of this evidence-based knowledge, South Africa’s National Department of Health, in April 2015, released the National Consolidated Guidelines of Human Immunodeficiency Virus (HIV) stipulating that all HIV-exposed babies should have a HIV Polymer Chain Reaction (PCR) test performed at birth. Early infant diagnosis (EID) means early initiation of combined antiretroviral treatment (cART) and a reduction in the incidence of early infant HIV-related mortality. However, these guidelines can only be successful if implemented properly across all public sector healthcare institutions. Thus,the research question was,“How well has the Nelson Mandela Bay Health District implemented the EID?”AIM The aim of the study was to review the impact of the consolidated HIV guidelines on birth HIV-PCR testing and initiation of treatment in the Nelson Mandela Bay Health District. METHOD A retrospective quantitative longitudinal non-experimental design was used.The study consisted of two components,namely,analysis of NHLS databases, particularly HIV birth PCR results of infants over a three-year period (June 2015 to June 2018),and analysis of feedback received from the primary health care clinics. The feedback focused on infants with a positive-birth PCR test, using a purpose-designed data collection tool that was used by the clinics for the duration of the same three-year period. The paper-based tool documented antenatal care attendance, enrolment into the prevention of mother-to-child transmission (PMTCT) programme and initiation of ART. RESULTS Over the three-year period, there were approximately 13,096 live births to HIV-positive women in the study area, and a total of 11,066 HIV birth PCR tests were done over xiiithe three-year study period (84.5% of HIV-exposed infants). The birth HIV PCR was negative in 10,909 (98.6%) neonates, while 130 (1.2%) of neonates had positive-birth HIV PCR tests,and a further 27 (0.2%) had indeterminate results. The birth HIV PCR positivity rate reduced from 1.4%(2015)to 1%(2018)over the three-year study period. Of the 130 infants with positive-birth HIV PCR, the files of 42 children were excluded, and further analysis conducted on the files of 88 infants. cART was initiated within seven days in only nine of the 88 infants (10.2%). ARV initiation was delayed for 58 infants (65.9%) and 21 neonates (23.9%) were never initiated on cART. Among the 88 mothers of infants, more than one-third (38.6%) of pregnant women did not attend antenatal care, thus,compromising their opportunity to be enrolled on the PMTCT programme. Of those who attended antenatal care, only 39.1% were reported to attend antenatal care before 20 weeks CONCLUSION AND RECOMMENDATIONS The incidence of positive-birth HIV PCR has reduced from 1.4% in 2015 to 1% in 2018 whilst there has been an increase in birth HIV PCR testing. However, initiation of cART within seven days was achieved in only 10.2% of infants with positive-birth HIV PCR test results. Implementation of point-of-care birth HIV PCR testing would ensure that results are immediately available resulting in increasing the proportion of infants initiated on cART within seven days

No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans

Background. Deafness is the most common sensory disability in the world. Globally, mutations in GJB2 (connexin 26) have been shown to play a major role in non-syndromic deafness. Two other connexin genes, GJB6 (connexin 30) and GJA1 (connexin 43), have been implicated in hearing loss, but these genes have seldom been investigated in black Africans. We aimed to validate the utility of testing for GJB2, GJB6 and GJA1 in an African context.Methods. Two hundred and five patients with non-syndromic deafness from Cameroon and South Africa had the full coding regions of GJB2 sequenced. Subsequently, a carefully selected subset of 100 patients was further sequenced for GJB6 and GJA1 using Sanger cycle sequencing. In addition, the large-scale GJB6-D3S1830 deletion was investigated.Results. No pathogenic mutations that could explain the hearing loss were detected in GJB2, GJB6 or GJA1, and the GJB6-D3S1830 deletion was not detected. There were no statistically significant differences in genomic variations in these genes between patients and controls. A comprehensive literature review supported these findings.Conclusion. Mutations in GJB2, GJB6 and GJA1 are not a major cause of non-syndromic deafness in black Africans and should not be investigated routinely in clinical practice