ABSTRACT
Background: Neural tube defects (NTDs) are abnormalities of the brain and spinal cord, which occur as a result of failure in neural tube closure during embryogenesis. Causes of NTDs are complex and multiple, with hereditary, lifestyle, and environmental factors appearing to play a role. In spite of their impact on public health, the role genetics play on NTDs in Ethiopia is lacking. In this study, the role of polymorphisms in MTHFR 677C > T (rs1801133), MTHFR 1298A > C (rs1801131), MTRR 66A > G (rs1801394), RFC1 80A > G (rs1051266), and TCN2 776C > G (rs1801198) on the risk of having NTD-affected pregnancy was investigated. Materials and Methods: One hundred women with NTD-affected pregnancy and 100 women with normal pregnancy were included in the study. DNA was extracted from saliva and genotyping for five polymorphisms in four genes was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The departure of the genotype's distribution from Hardy-Weinberg equilibrium (HWE) was evaluated using the x2 goodness-of-fit test. Frequencies of genotypes and alleles in case and control mothers were determined and differences between relative frequencies were evaluated by the x2 or the Fisher's exact test. Results: The statistically significant difference was absent in the genotype and allele frequencies for all the analyzed polymorphisms between cases and controls (P > 0.05). Conclusion: MTHFR 677C > T, MTHFR 1298A > C, MTRR 66A > G, RFC1 80A > G, and TCN2 776C > G polymorphisms lack association with the risk of having a pregnancy affected by NTD. The role of other genes or environmental factors in NTD etiology needs to be investigated.
ABSTRACT
BACKGROUND: Poor communication between patients and providers can lead to misunderstanding and misclassification of clinical information, including pregnancy outcomes by women. This qualitative study with maternity care providers explores patient-provider communications regarding stillbirths (SB) and early neonatal deaths (END) and potential SB-END misclassification in Ethiopia. METHODS: Qualitative data were collected through 8 in-depth interviews and 3 focus group discussions with maternity care providers at Tikur Anbessa and Gandhi Memorial hospitals in Addis-Ababa. RESULTS: Twenty-six maternity care providers (10 physicians;16 nurses/midwives) were interviewed. Providers noted that high patient loads negatively influence their provision of quality care to patients. Yet, despite patients generally not asking many questions during their delivery hospitalization, maternity care providers reported offering information about pregnancy outcomes at hospital discharge. The level of education was the most cited factor influencing patients' understanding of the information communicated to them, especially with regard to adverse pregnancy outcomes. Respondents reported that women do not have significant misconceptions about either SB or END. Nevertheless, they also revealed that both purposeful and accidental SB-END misclassification occurs. Reports of the direction of such misclassification differed by type of provider - physicians noted that misclassification of SB as END is most common, while nurses and midwives identified the opposite direction for this type of misclassification. CONCLUSIONS: Maternity care providers' reporting practices and the quality of their communication with patients contribute to the SB-END misclassification in Ethiopia. There is need to increase providers' awareness of the importance of capturing and reporting reliable and valid information on pregnancy outcomes.
