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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.

SUBMITTER: Yao Y

PROVIDER: S-EPMC4702166 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature

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

Yao Yuan Y Liao Yang Y Han Mei M Li Sheng-Lan SL Luo Juan J Zhang Bo B

Scientific reports 20160106

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 ...[more]

PMID: 26732706

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Project description:BackgroundReliable antenatal identification of pre-eclampsia and small for gestational age is crucial to judicious allocation of monitoring resources and use of preventative treatment with the prospect of improving maternal/perinatal outcome. The purpose of this systematic review was to determine the accuracy of five serum analytes used in Down's serum screening for prediction of pre-eclampsia and/or small for gestational age.MethodsThe data sources included Medline, Embase, Cochrane library, Medion (inception to February 2007), hand searching of relevant journals, reference list checking of included articles, contact with experts. Two reviewers independently selected the articles in which the accuracy of an analyte used in Downs's serum screening before the 25th gestational week was associated with the occurrence of pre-eclampsia and/or small for gestational age without language restrictions. Two authors independently extracted data on study characteristics, quality and results.ResultsFive serum screening markers were evaluated. 44 studies, testing 169,637 pregnant women (4376 pre-eclampsia cases) and 86 studies, testing 382,005 women (20,339 fetal growth restriction cases) met the selection criteria. The results showed low predictive accuracy overall. For pre-eclampsia the best predictor was inhibin A>2.79MoM positive likelihood ratio 19.52 (8.33,45.79) and negative likelihood ratio 0.30 (0.13,0.68) (single study). For small for gestational age it was AFP>2.0MoM to predict birth weight < 10th centile with birth < 37 weeks positive likelihood ratio 27.96 (8.02,97.48) and negative likelihood ratio 0.78 (0.55,1.11) (single study). A potential clinical application using aspirin as a treatment is given as an example.There were methodological and reporting limitations in the included studies thus studies were heterogeneous giving pooled results with wide confidence intervals.ConclusionDown's serum screening analytes have low predictive accuracy for pre-eclampsia and small for gestational age. They may be a useful means of risk assessment or of use in prediction when combined with other tests.

Project description:BACKGROUND:Screening for Down's syndrome forms part of routine obstetric practice. Ethical considerations relating to genetic screening form a major part of the workload of research ethics committees. This study investigated the attitudes of research ethics committee members to several conditions varying in clinical severity and prognosis, including Down's syndrome. METHODS:The members of 40 randomly chosen research ethics committees were surveyed. A simple questionnaire comprising 19 clinical scenarios based around four "clinical" conditions was designed to review conditions that were potentially embarrassing, affecting life span but not mental ability, premature death, and intellectual impairment with a risk of neonatal cardiac defects (Down's syndrome). Screening tests with different degrees of effectiveness were described and the diagnostic test descriptions ranged from having no risk to an unaffected fetus to causing spontaneous abortion of two normal fetuses for each affected fetus identified. Replies were graded on a scale of 1 to 5. RESULTS:Seventy seven replies were received from 28 different research ethics committees. Screening was supported for treatment of a life threatening condition (95% in favour) but screening for conditions of a slight increase in premature death (14% in favour) or cosmetic features (10% in favour) were considered unethical. Views were ambiguous (49% in favour) about conditions involving significant shortening of lifespan. Down's syndrome screening was considered more ethical when described as a serious condition (56% in favour) than when the clinical features were described (44% in favour). Once increased rates of spontaneous abortion on confirmatory testing were added, 79% (21% in favour) and 86% (14% in favour) stated that screening was unethical (for "serious" and "clinical features" descriptions, respectively). CONCLUSIONS:Down's syndrome screening raises ethical concerns about genetic testing in general that need to be dealt with before the introduction of any prenatal screening test.

Project description:Biomarkers commonly assessed in prenatal screening have been associated with a number of adverse perinatal and birth outcomes. However, it is not clear whether first trimester measurements of prenatal screening biomarkers are associated with subsequent risk of gestational diabetes mellitus (GDM). We aimed to systematically review and statistically summarize studies assessing the relationship between first trimester prenatal screening biomarker levels and GDM development. We comprehensively searched PubMed/MEDLINE, EMBASE, CINAHL, and Scopus (from inception through January 2018) and manually searched the reference lists of all relevant articles. We included original, published, observational studies examining the association of first trimester pregnancy associated plasma protein-A (PAPP-A) and/or free β-human chorionic gonadotropin (free β-hCG) levels with GDM diagnosis. Mean differences were calculated comparing PAPP-A and free β-hCG multiples of median (MoM) levels between women who developed GDM and those who did not and were subsequently pooled using two-sided random-effects models. Our meta-analysis of 13 studies on PAPP-A and nine studies on free β-hCG indicated that first trimester MoM levels for both biomarkers were lower in women who later developed GDM compared to women who remained normoglycemic throughout pregnancy (MD -0.17; 95% CI -0.24, -0.10; MD -0.04; 95% CI -0.07-0.01). There was no evidence for between-study heterogeneity among studies on free β-hCG (I2 = 0%). A high level of between-study heterogeneity was detected among the studies reporting on PAPP-A (I2 = 90%), but was reduced after stratifying by geographic location, biomarker assay method, and timing of GDM diagnosis. Our meta-analysis indicates that women who are diagnosed with GDM have lower first trimester levels of both PAPP-A and free β-hCG than women who remain normoglycemic throughout pregnancy. Further assessment of the predictive capacity of these biomarkers within large, diverse populations is needed.

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

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

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