Prenatal diagnosis, management and challenges of fetal defects: an epidemiological survey in a low-income Country
DOI:
https://doi.org/10.18203/2320-1770.ijrcog20243923Keywords:
Congenital anomalies, Antenatal diagnosis, surgery, fetal medicineAbstract
Background: The objective of this study was to describe the epidemiology and outcomes of fetal anomalies and malformations in a low-income country.
Methods: This was a descriptive, retrospective, cross-sectional study conducted over 18 months in various hospitals in Senegal. All fetuses diagnosed with a structural or functional fetal anomaly were included. Cases presenting with intrauterine fetal death (IUFD) were excluded, due to lack of ultrasound diagnosis. Data were collected via a database using Filemaker® software and analyzed using Statistical Package for Social Sciences version 20.0 (SPSS). Qualitative variables were described by proportions, while quantitative variables were expressed using their dispersion parameters.
Results: A total of 155 cases of fetal pathologies were recorded. The anomalies primarily affected the central nervous system (20.6%), the urinary system (51%), the musculoskeletal system (11.6%), the abdomen and digestive tract (11.3%), and the heart (11%). Among the fetuses, 57 (36.8%) had in utero complications, with 13 cases of intrauterine fetal death (8.8%). Invasive diagnostic procedures were performed on 15 patients (9.7%), and antenatal treatment was administered to 10 patients (6.5%). The mean gestational age at delivery was 35.6 weeks. Caesarean delivery was predominant (76.3%). Postnatal care was medical for 43 patients, surgical for 26, and palliative for 22. Neonatal mortality was 51.4%. Among this neonatal death, 30% of cases linked to the lack of postnatal care.
Conclusions: The prevalence of fetal malformations remains stable and similar across countries. The organization of prenatal diagnosis and specialized care must be a priority.
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References
Corsello G, Giuffrè M. Congenital malformations. J Matern Fet Neonat Med. 2012;25:25-9.
Farmer D, Sitkin N, Lofberg K, Donkor P, Ozgediz D. Surgical interventions for congenital anomalies. Disease control priorities. 2015;1:129-49.
World Health Organization. WHO Fact Sheets- Congenital Anomalies. 2015. Available from: http://www.who.int/news-room/fact-sheets/detail/congenital-anomalies. 20 August 2024.
Sitkin NA, Ozgediz D, Donkor P, Farmer DL. Congenital anomalies in low- and middle-income countries: the unborn child of global surgery. World J Surg. 2015;39:36-40.
Cariati F, D’Argenio V, Tomaiuolo R. Innovative technologies for diagnosis and screening of genetic diseases in antenatal age. J Lab Precis Med. 2020;5:6.
Cariati F, D’Argenio V, Tomaiuolo R. The evolving role of genetic tests in reproductive medicine. J Transl Med. 2019;17:267.
Adzick NS. Open fetal surgery for life-threatening fetal anomalies. Semin Fet Neonat Med. 2009;15:1-8.
Pakarinen M, Bjørland K, Qvist N, Wester T. Centralized pediatric surgery in the Nordic countries: a role model for Europe? Eur J Pediatr Surg 2017;27:395-8.
Goley SM, Sakula-Barry S, Adofo-Ansong N, Ntawunga LI, Botchway MT, Kelly AH, et al. Investigating the use of ultrasonography for the antenatal diagnosis of structural congenital anomalies in low-income and middle-income countries: a systematic review. BMJ Paediatrics Open. 2020;4(1).
Gill SK, Broussard C, Devine O, Green RF, Rasmussen SA, Reefhuis J, et al. Association between maternal age and birth defects of unknown etiology: United States, 1997-2007. Birth Defects Res Clin Mol Teratol. 2012;94:1010-8.
Sadlecki P, Walentowicz-Sadlecka M. Prenatal diagnosis of fetal defects and its implications on the delivery mode. Open Med. 2023;18:20230704.
Oliveira-Brancati CIF, Ferrarese VCC, Costa AR, Fett-Conte AC. Birth defects in Brazil: outcomes of a population-based study. Genet Mol Biol. 2020;43:e20180186.
Glinianaia SV, Tennant PWG, Rankin J. Risk estimates of recurrent congenital anomalies in the UK: a population-based register study. BMC Med. 2017;15:20.
Lie RT, Wilcox AJ, Skjaerven R. A population-based study of the risk of recurrence of birth defects. N Engl J Med. 1994;331:1-4.
Parikh LI, Grantz KL, Iqbal SN, Huang CC, Landy HJ, Fries MH, et al. Neonatal outcomes in fetuses with cardiac anomalies and the impact of delivery route. Am J Obstet Gynecol. 2017;217:469.e1-12.
Sun HY. Prenatal diagnosis of congenital heart defects: echocardiography. Translat Pediatr. 2021;10:2210224.
Holzgreve W. Fetal anomalies- from prenatal diagnosis to therapy. J Perinat Med. 2018;46:951-2.
Wu VK, Poenaru D, Poley MJ. Burden of surgical congenital anomalies in Kenya: a population-based study. J Trop Pediatr. 2013;59:195-202.
Wu V, Poenaru D. Burden of surgically correctable disabilities among children in the Dadaab refugee camp. World J Surg. 2013;37.
Corlew DS. Estimation of impact of surgical disease through economic modelling of cleft lip and palate care. World J Surg. 2010;34:391-6.