Clinical Use of Combined First-Trimester Screening Test for Aneuploidy in A Low-Income Setting: Retrospective Study.

Background: Although combined first trimester screening is effective at detecting fetal chromosomal anomalies which are trisomy 21, 18 and 13, there is scarce data on its practice and practice in low-income countries. This study presents data on clinical use of combined first trimester prenatal screening tests among pregnant women in a Sub-Saharan setting. Methods: This retrospective study was conducted over 7 years between July 2016 and June 2023 at St. Paul's Hospital Millennium Medical College (Ethiopia). Risk assessment was done with Snibe 2000 software using maternal age, nuchal translucency, PAPP-A, β-hCG and other maternal characteristics. Statistical analysis was done using SPSS version 22. Fishers exact and Man Whitney U test were done as appropriate, and Results: A total of 141 patients were included in the final analysis. Overall high-risk cases for aneuploidy based on the combined test was 24.8%. Screening positive for aneuploidy had an association with increased nuchal translucency [median (IQR) = 2.1 (1.7, 2.5) for screening negative vs 2.9 (2.4, 2.9) for screening positive test, Conclusion: The prevalence of screening positive for high-risk aneuploidy in this study was higher than in previous reports which may be due to the fact that the study population is primary high-risk women. Nuchal translucency and low PAPP-A values were associated with screening positive for aneuploidy. Combined first trimester screening is feasible and effective for detecting fetal chromosomal anomalies in low-income settings. Laboratory capacity for performing serum analytes and genetic testing, and availability of nuchal translucency ultrasound services should acted up on for creating a wider access to such vital prenatal genetic screening and testing services.