Two kinds of common prenatal screening tests for Down’s syndrome: a systematic review and meta-analysis

Abstract

As the chromosomal examination of foetal cells for the prenatal diagnosis of Down’s syndrome (DS) carries a risk of inducing miscarriage, serum screening tests are commonly used before invasive procedures. In this study, a total of 374 records from PubMed, EMBASE, and the ISI Science Citation Index databases were reviewed. As a result of duplication, insufficient data, and inappropriate article types, 18 independent articles containing 183,998 samples were used in the final systematic review and meta-analysis of the diagnostic performance of the serum triple screening test (STS) and the integrated screening test (INS). Data extracted from the selected studies were statistically analysed, and the presence of heterogeneity and publication bias was assessed using specific software. The overall sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio, and the area under the curve for the STS were 0.77 (95% confidence interval = 0.73–0.81), 0.94 (0.94–0.94), 9.78 (6.87–13.93), 0.26 (0.22–0.31), 44.72 (30.77–65.01), and 0.9064, respectively. For the INS, these values were 0.93 (0.90–0.95), 0.93 (0.93–0.93), 22.38 (12.47–40.14), 0.08 (0.05–0.11), 289.81 (169.08–496.76), and 0.9781, respectively. These results indicate that the INS exhibits better diagnostic value for DS. However, further research is needed to identify other biomarkers to improve prenatal screening tests.

Effectiveness of the preventive intervention of chromosomal disorders of Iran's community genetics program: Application of bayesian network

“…The effectiveness of trisomies screening as the strategy for preventing the common genetic disorders in ICGP and the effectiveness of genetic risk identification as the strategy of preventing the relatively rare genetic disorders are estimated. Effectiveness of screening for trisomies at pregnancy as the main preventive strategy for chromosomal disorders was estimated 80% (95% CI, 76%-84%) for Down syndrome and 90% (95% CI, 87%-93%) for trisomy 13 and 18, which is in the range of the result of observational studies conducted in different countries ( 30 ). In total, all preventive interventions of ICGP can result in a 31% decrease in birth prevalence of chromosomal disorders in Iran, which is equal to the reduction of 63% of preventable chromosomal disorders.…”

Implementation of the Publicly Funded Prenatal Screening Programme in Poland during the COVID-19 Pandemic: A Cross-Sectional Study

“…This results in less contact with HCWs and therefore less exposure to potential virus transmission. However, this test is not currently the gold diagnostic standard for chromosomal aberrations due to its lower sensitivity compared with the double test (77% vs. 93%) [ 18 ]. The use of STS without an ultrasound examination may entail an incorrect assessment of the gestational age during risk calculation.…”

Prenatal Diagnostic Testing Following High-Risk Result from Serological Screening: Which Shall We Select?

“… 1 Gestational age, maternal age and weight, maternal biochemical markers, and ultrasound measurements are the most common methods used. 2 According to previous studies, the detection rate of Down syndrome was 50%~75% in the second trimester 3 , 4 and 75%~85% in the first trimester. 5 , 6 The false-positive rate (FR) is considerable 7 , 8 and women with high-risk (HR) results from serological screening should undergo diagnostic testing.…”