• Polymorphisms: associated with gestational duration/sPTB
• Maternal variants at EBF1, EEFSEC, AGTR2, WNT4, ADCY5, and RAP2C loci associated with gestational duration and at EBF1, EEFSEC, and AGTR2 loci with PTB.
• PTB susceptibility genes identified, but epigenetic and gene-environmental factors play a bigger role than maternal genotype.
RACIAL DISPARITIES
• African American pregnant people have a 50% higher rate of sPTB than non-Hispanic White pregnant people
• Multiple maternal and fetal inflammatory pathway genetic polymorphisms linked to inflammation-associated sPTB are found in greater prevalence among African American mothers and/or fetuses than among other racial groups
• African American mothers harboring both a polymorphism of the tumor necrosis factor-alpha gene and bacterial vaginosis are at significantly greater risk of PTB (odds ratio 6.1, 95% CI 1.9-21.0)
• Higher vaginal levels of the host-derived antimicrobial peptide, beta-defensin 2, are linked to a lowered risk of sPTB
• Lower levels of beta-defensin 2 were linked to spontaneous PTB only among African American pregnant people.
INTERVENTIONS
• Genetic counseling and testing
• Prenatal screening and diagnosis
• Preimplantation genetic diagnosis
• In vitro fertilization with donor eggs or sperm
• Use of assisted reproductive technologies
• Prophylactic measures during pregnancy, such as cervical cerclage or progesterone supplementation.
FUTURE INTERVENTIONS
• Comprehensive genetic testing panels
• Gene therapies for genetic variants
• Personalized medicine approaches
• Understanding genetic-environment interactions
• Medications targeting genetic pathways
• CRISPR-Cas9 for genetic modification
• Non-invasive diagnostic tools development
RESEARCH GAPS
• Limited understanding of genetic factors
• Lack of standard genetic testing
• Limited knowledge of long-term outcomes
• Need for diverse population studies
• Limited understanding of genetic variant response
• Need for more effective prevention
• Need for improved communication and education
References:
Zhang, G., Feenstra, B., Bacelis, J., Liu, X., Muglia, L. M., Juodakis, J., ... & Muglia, L. J. (2017). Genetic associations with gestational duration and spontaneous preterm birth. New England Journal of Medicine, 377(12), 1156-1167.
Robinson, J. N., & Norwitz, E. R. (2018). Preterm birth: Risk factors, interventions for risk reduction, and maternal prognosis. UpToDate.[(accessed on 20 January 2022)]. Available online: https://www. uptodate. com/contents/preterm-birth-risk-factors-interventions-for-risk-reduction-and-maternal-prognosis.
Hitti, J., Nugent, R., Boutain, D., Gardella, C., Hillier, S. L., & Eschenbach, D. A. (2007). Racial disparity in risk of preterm birth associated with lower genital tract infection. Paediatric and perinatal epidemiology, 21(4), 330-337.
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Genetic