Second-trimester prenatal screening for Down syndrome and the relationship of maternal serum biochemical markers to pregnancy complications with adverse outcome

Abstract Objective: This study aims to determine whether it is possible to predict preeclampsia by comparing postpartum results and test results of the pregnant women diagnosed with preeclampsia, whose first and/or second trimester screening tests were accessible, and to demonstrate the predictability of severity and week of onset.Background: 204 patients underwent renal transplantation in our center and 84 of them were female. Five of our patients (one of them had two births) gave birth to a total of 6 pregnancies.Method: 135 patients were diagnosed with preeclampsia and their first and/or second trimester screening tests were accessible, and 366 control participants gave birth to a healthy baby between 37-41 weeks after standard follow-up period for pregnancy and their screening tests were also accessible.Results: The study results show that the first trimester maternal serum PAPP-A level is significantly low in preeclamptic pregnant women, and that the second trimester maternal serum AFP and hCG levels are significantly high and uE3 levels are significantly low The results also suggest that the first and second trimester Down syndrome biochemical markers can be used in preeclampsia screening.Conclusion: Among these markers, uE3 is the parameter which affects the possibility of preeclampsia the most. However, the first and second trimester Down syndrome biochemical markers are not effective in predicting the severity and onset week of preeclampsia.

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False-Positive Maternal Serum Screens in the Second Trimester as Markers of Placentally Mediated Complications Later in Pregnancy: A Systematic Review and Meta-Analysis

Disease Markers ◽

10.1155/2021/5566234 ◽

2021 ◽

Vol 2021 ◽

pp. 1-14

Author(s):

Christy L. Pylypjuk ◽

Joel Monarrez-Espino

Keyword(s):

Down Syndrome ◽

Preterm Birth ◽

Pregnancy Complications ◽

False Positive ◽

Meta Analysis ◽

Grey Literature ◽

Maternal Serum ◽

Growth Restriction ◽

Second Trimester ◽

In Pregnancy

Background. Multiple-marker, maternal serum screening (MSS) has been the cornerstone of prenatal diagnosis since the 1980s. While combinations of these markers are used to predict fetal risk of Down syndrome and other genetic conditions, there is some evidence that individual markers may also predict nongenetic pregnancy complications, particularly those related to placental dysfunction. The objective of this meta-analysis was to investigate the utility of false-positive, second-trimester MSS for Down syndrome as a marker of placentally mediated complications amongst singleton pregnancies globally. Methods. Electronic searches of PubMed, Medline, Embase, CINAHL, Web of Science, Scopus, and grey literature to 2019 were performed to identify observational studies comparing risk of pregnancy complications amongst pregnancies with false-positive MSS versus controls. A random-effects model of pooled odds ratios by outcome of interest (stillbirth, preeclampsia, fetal growth restriction, and preterm birth) and subgrouped by type of MSS test (double-, triple-, and quadruple-marker MSS) was used. Results. 16 studies enrolling 68515 pregnancies were included. There were increased odds of preeclampsia (OR 1.28, 95% CI 1.09-1.51) and stillbirth (OR 2.46, 95% CI 1.94-3.12) amongst pregnancies with false-positive MSS. There was no significant association with preterm birth or growth restriction. Conclusions. There is some evidence of an association between false-positive, second-trimester MSS for Down syndrome and increased odds of preeclampsia and stillbirth. Future large-scale prospective studies are still needed to best determine the predictive value of false-positive MSS as a marker of placentally mediated complications later in pregnancy and evaluate potential clinical interventions to reduce these risks.

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Prenatal Screening Markers for Down Syndrome: Sensitivity, Specificity, Positive and Negative Expected Value Method

Journal of Medical Biochemistry ◽

10.1515/jomb-2017-0022 ◽

2018 ◽

Vol 37 (1) ◽

pp. 62-66

Author(s):

Jasmina Durković ◽

Milan Ubavić ◽

Milica Durković ◽

Tibor Kis

Keyword(s):

Down Syndrome ◽

Biochemical Markers ◽

Trisomy 21 ◽

Prenatal Screening ◽

Protein A ◽

First Trimester ◽

Expected Value ◽

Maternal Serum ◽

Beta Hcg ◽

Sensitivity Specificity

SummaryBackground: Genetic screening for chromosomopathy is performed in the first trimester of pregnancy by determining fetal nuchal translucency (NT), and the pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG) biomarkers in maternal serum. Methods: We tested the sensitivity, specificity, positive and negative expected values of each marker with the aim of setting a model for prenatal screening readings. Statistical data treatment has been performed on a sample of 340 pregnant women with positive results of prenatal screening. Results: Sensitivity of PAPP-A was 0.6250 (probability 62.50%), free beta HCG 0.5893 (58.93%), NT 0.1785 (17.85%). Specificity of PAPP-A was 0.5106 (probability 51.06%), free beta HCG 0.5246 (52.46%), NT 0.9718 (97.18%). Positive expected value of PAPP-A was 0.2011 (probability 20.11%), free beta HCG 0.1964 (19.64%), NT 0.556 (55.56%). Negative expected value of PAPP-A was 0.8735 (probability 87.35%), free beta HCG 0.8662 (86.62%), NT 0.8571 (85.71%). The NT marker has a significantly higher specificity, which means that its normal value will significantly reduce the final risk of trisomy 21. The sensitivity of NT is much lower than that of biochemical markers, which means that a pathological value of NT does not have a significant influence on the final risk, i.e. the significantly higher sensitivity of biochemical markers will reduce the final risk of trisomy 21. Conclusion: The analyses stress the importance of using a software which has the possibility to separate the level of a biochemical risk by correlating PAPP-A and free beta HCG and, by adding the NT marker, calculate the level of a final risk of Down syndrome.

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First trimester ultrasound identifies more cases of Down syndrome than second trimester maternal serum screening and is more cost effective

PsycEXTRA Dataset ◽

10.1037/e556492006-009 ◽

2003 ◽

Keyword(s):

Down Syndrome ◽

Cost Effective ◽

First Trimester ◽

Maternal Serum ◽

Second Trimester ◽

Maternal Serum Screening ◽

Serum Screening ◽

First Trimester Ultrasound

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Maternal immune response and air pollution exposure during pregnancy: insights from the Early Markers for Autism (EMA) study

Journal of Neurodevelopmental Disorders ◽

10.1186/s11689-020-09343-0 ◽

2020 ◽

Vol 12 (1) ◽

Author(s):

Heather E. Volk ◽

Bo Park ◽

Calliope Hollingue ◽

Karen L. Jones ◽

Paul Ashwood ◽

...

Keyword(s):

Air Pollution ◽

Intellectual Disability ◽

Prenatal Screening ◽

Maternal Serum ◽

Serum Samples ◽

Maternal Immune Activation ◽

Early Markers ◽

Air Pollution Exposure ◽

Pollution Exposure ◽

The Relationship

Abstract Background Perinatal exposure to air pollution and immune system dysregulation are two factors consistently associated with autism spectrum disorders (ASD) and other neurodevelopmental outcomes. However, little is known about how air pollution may influence maternal immune function during pregnancy. Objectives To assess the relationship between mid-gestational circulating levels of maternal cytokines/chemokines and previous month air pollution exposure across neurodevelopmental groups, and to assess whether cytokines/chemokines mediate the relationship between air pollution exposures and risk of ASD and/or intellectual disability (ID) in the Early Markers for Autism (EMA) study. Methods EMA is a population-based, nested case–control study which linked archived maternal serum samples collected during weeks 15–19 of gestation for routine prenatal screening, birth records, and Department of Developmental Services (DDS) records. Children receiving DDS services for ASD without intellectual disability (ASD without ID; n = 199), ASD with ID (ASD with ID; n = 180), ID without ASD (ID; n = 164), and children from the general population (GP; n = 414) with no DDS services were included in this analysis. Serum samples were quantified for 22 cytokines/chemokines using Luminex multiplex analysis technology. Air pollution exposure for the month prior to maternal serum collection was assigned based on the Environmental Protection Agency’s Air Quality System data using the maternal residential address reported during the prenatal screening visit. Results Previous month air pollution exposure and mid-gestational maternal cytokine and chemokine levels were significantly correlated, though weak in magnitude (ranging from − 0.16 to 0.13). Ten pairs of mid-pregnancy immune markers and previous month air pollutants were significantly associated within one of the child neurodevelopmental groups, adjusted for covariates (p < 0.001). Mid-pregnancy air pollution was not associated with any neurodevelopmental outcome. IL-6 remained associated with ASD with ID even after adjusting for air pollution exposure. Conclusion This study suggests that maternal immune activation is associated with risk for neurodevelopmental disorders. Furthermore, that prenatal air pollution exposure is associated with small, but perhaps biologically relevant, effects on maternal immune system function during pregnancy. Additional studies are needed to better evaluate how prenatal exposure to air pollution affects the trajectory of maternal immune activation during pregnancy, if windows of heightened susceptibility can be identified, and how these factors influence neurodevelopment of the offspring.

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