scholarly journals cfDNA prenatal screening for Cri-Du-Chat, Prader-Willi/Angelman and 1p36del syndromes in 10,971 pregnancies with genetic confirmation

2022 ◽  
Vol 226 (1) ◽  
pp. S526-S527
Author(s):  
Pe'er Dar ◽  
Cora MacPherson ◽  
Bo Jacobsson ◽  
Melissa Egbert ◽  
Fergal D. Malone ◽  
...  
Keyword(s):  
2017 ◽  
Vol 13 (01) ◽  
Author(s):  
Nooshin Nikoo ◽  
Mohammadali Nikoo ◽  
Michael Song ◽  
Adrienne Wesnel ◽  
Ali Pervaiz ◽  
...  

Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.


Author(s):  
Yakubova D.I.

Objective of the study: Comprehensive assessment of risk factors, the implementation of which leads to FGR with early and late manifestation. To evaluate the results of the first prenatal screening: PAPP-A, B-hCG, made at 11-13 weeks. Materials and Methods: A retrospective study included 110 pregnant women. There were 48 pregnant women with early manifestation of fetal growth restriction, 62 pregnant women with late manifestation among them. Results of the study: The risk factors for the formation of the FGR are established. Statistically significant differences in the indicators between groups were not established in the analyses of structures of extragenital pathology. According to I prenatal screening, there were no statistical differences in levels (PAPP-A, b-hCG) in the early and late form of FGR.


1996 ◽  
Vol 166 (2) ◽  
pp. 466-467 ◽  
Author(s):  
G K Sickler ◽  
D A Nyberg

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Heather E. Volk ◽  
Bo Park ◽  
Calliope Hollingue ◽  
Karen L. Jones ◽  
Paul Ashwood ◽  
...  

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.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Titilayo Tatiana Agbadjé ◽  
Matthew Menear ◽  
Marie-Pierre Gagnon ◽  
France Légaré

Abstract Background Our team has developed a decision aid to help pregnant women and their partners make informed decisions about Down syndrome prenatal screening. However, the decision aid is not yet widely available in Quebec’s prenatal care pathways. Objective We sought to identify knowledge translation strategies and develop an implementation plan to promote the use of the decision aid in prenatal care services in Quebec, Canada. Methods Guided by the Knowledge-to-Action Framework and the Theoretical Domains Framework, we performed a synthesis of our research (11 publications) on prenatal screening in Quebec and on the decision aid. Two authors independently reviewed the 11 articles, extracted information, and mapped it onto the Knowledge-to-Action framework. Using participatory action research methods, we then recruited pregnant women, health professionals, managers of three prenatal care services, and researchers to (a) identify the different clinical pathways followed by pregnant women and (b) select knowledge translation strategies for a clinical implementation plan. Then, based on all the information gathered, the authors established a consensus on strategies to include in the plan. Results Our knowledge synthesis showed that pregnant women and their partners are not sufficiently involved in the decision-making process about prenatal screening and that there are numerous barriers and facilitators of the use of the decision aid in clinical practice (e.g., low intention to use it among health providers). Using a participatory action approach, we met with five pregnant women, three managers, and six health professionals. They informed us about three of Quebec’s prenatal care pathways and helped us identify 20 knowledge translation strategies (e.g., nurse discusses decision aid with women before they meet the doctor) to include in a clinical implementation plan. The research team reached a consensus about the clinical plan and also about broader organizational strategies, such as training healthcare providers in the use of the decision aid, monitoring its impact (e.g., measure decisional conflict) and sustaining its use (e.g., engage key stakeholders in the implementation process). Conclusion Next steps are to pilot our implementation plan while further identifying global strategies that target institutional, policy, and systemic supports for implementation.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  

Abstract Background Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency for pregnant women at advanced maternal age (AMA) has not been fully studied especially in Chinese women. Methods Twenty-nine thousand three hundred forty-three pregnant women at AMA with singleton pregnancy who received NIPS and followed-up were recruited. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), receiver operating characteristic (ROC) curves and the Youden Index for detecting fetal chromosomal aneuploidies were analyzed. The relationship between maternal age and common fetal chromosomal aneuploidy was observed. Results The sensitivity, specificity, PPV, NPV of NIPS for detecting fetal trisomy 21 were 99.11, 99.96, 90.98, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100, 99.94, 67.92, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100, 99.96, 27.78, and 100%, respectively. The prevalence of fetal trisomy 21 increased exponentially with maternal age. The high-risk percentage incidence rate of fetal trisomy 21 was significantly higher in the pregnant women at 37 years old or above than that in pregnant women at 35 to 37 years old. (Youden index = 37). Conclusion It is indicated that NIPS is an effective prenatal screening method for pregnant women at AMA.


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