Reproductive genetic screening for information: evolving paradigms?

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Samantha J. Leonard

Abstract Reproductive genetic screening has introduced the possibility for pregnant women to learn, during the pregnancy or sometimes earlier, about the likelihood of their baby being affected with certain genetic conditions. As medicine progresses, the options afforded by this early information have expanded. This has led to a shifting paradigm in prenatal screening, wherein the early knowledge is seen as useful not solely for its inherent value to the pregnant woman, but also as enabling an expansion of conditions whose identification may allow early intervention and clinical impact. This article discusses this paradigm against the backdrop of prenatal genetic screening that is available today.

2020 ◽  
Author(s):  
Xiaodong Gu ◽  
Sudong Liu ◽  
Huaxian Wang ◽  
Ruiqiang Weng ◽  
Xuemin Guo ◽  
...  

Abstract Background: Although a variety of non-invasive techniques are used for prenatal genetic screening and diagnosis, our knowledge remains limited regarding the relationship between high-risk prenatal indications and fetal chromosomal abnormalities.Methods: We retrospectively investigated the prenatal genetic screening and karyotype analysis results of pregnant women who had undergone invasive prenatal testing in Prenatal Diagnosis Department of Meizhou People’s Hospital during Jan. 1, 2015 to Dec. 31, 2019. We analyzed the frequencies of chromosome abnormalities in women with high-risk indications.Results: A total of 2,193 pregnant women who had underwent invasive prenatal testing were included in our analysis. Chromosomal abnormalities occurred in 10.3% of these women, and rate increased with maternal age (P < 0.001). The frequencies of chromosome abnormalities varied for women with different high-risk indications, which was 10.3% (226/2193) for abnormal ultrasound results, 3.3% (31/938) for positive serum screening test results, 61.4% (78/127) for positive NIPT results, 9.3% (13/140) for AMA and 11.1% (10/90) for obstetric/family history. Follow up data showed that 380 pregnant women opted for termination the pregnancy, including 211 (55.5%) due to karyotype abnormalities and 169 (45.5%) due to abnormal ultrasonic outcomes.Conclusion: Our data suggested that the prenatal screening methods have high false positive rates. NIPT is the most accurate non-invasive prenatal screening. Apart from karyotype abnormality, abnormal ultrasound results alone accounted for a big part of pregnancy termination.


2020 ◽  
pp. 61-63
Author(s):  
S. Sh. Kakvaeva ◽  
M. A. Magomedova ◽  
A. N. Dzhalilova

One of the most serious problems of modern medicine is sepsis. The number of patients undergoing this complication is 20–30 million (WHO) annually and has no tendency to decrease. Sepsis is characterized by severe multiple organ failure due to a violation of the response of the macroorganism to an infectious agent. Moreover, it is dangerous with high mortality. Sepsis often develops in patients with immunodeficiency conditions, which primarily include pregnant women. The article presents a clinical observation of a case of periostitis in a pregnant woman complicated by a septic state.


2020 ◽  
pp. 51-56
Author(s):  
V.М. Аntonyuk-Kysil ◽  
◽  
І.Y. Dziubanovskyi ◽  
V.М. Yenikeeva ◽  
S.І. Lichner ◽  
...  

The objective: to evaluate the results of planned open surgical interventions (POSI) in pregnant women with primary symptomatic chronic vein disease (PSCVD). Materials and methods. The study included 457 pregnant women operated on a routine basis with PSCVD. The patients underwent ultrasound duplex angioscanning (USDA) of the veins of the lower extremities, inguinal canals, and iliac veins. The severity of the clinical manifestations of PSCVD was evaluated on a VCSS scale. With the help of the circadian visual-analog scale, the dynamics after the operative pain were studied. The effect of POSI on uterine tone and cardiac function of the fetus was investigated using cardiotocography. When forming the results for POSI, data from USDA, the severity of clinical and cosmetic manifestations of PCVD, the need for active prevention of thrombophlebetic, thromboembolic and hemorrhagic complications, minimization of surgical childbirth were taken into account. The results of treatment were studied in 2 groups of patients. Patients of the first group were treated with conservative therapy, the second group – POSI. Parametric indicators, which were presented as mean and standard error M(SD), were used for statistical data processing of the study, and their reliability was estimated using Student’s t-test. The species was determined to be significant at p<0.05. Results. 495 POSI were performed at 28-38 weeks gestation in an obstetric hospital (perinatal center), by a vascular surgeon from the staff of the center, who was familiarized with the peculiarities of working with this contingent of patients. Surgery was performed under local anesthesia in 346 (75.49%) pregnant women at one extremity, in 111 (24.51%) – at two in one session. According to the results of the study, it was noted that in the first group 33.7% of patients had a positive clinical result due to the reduction of pain syndrome, while 67.5% of patients had an increase and spread of varicose transformation in the area of saphenous and/or non-saphenous veins with spread of pathological venous reflux in the distal direction. 78% of patients had the need to administer prophylactic doses of low molecular weight heparins, both during pregnancy and in postpartum period. Out of 126 pregnant women with pronounced varicose veins of the external genital organs and perineum in 36 (28.6%) deliveries were performed by caesarean section. In 9 (3%) patients there was an acute thrombophlebitis of the subcutaneous veins of the lower extremities, which required 5 pregnant women to undergo urgent surgery when the inflammatory process had spread to the middle and above along the femoral vein of the large subcutaneous vein. Pregnant women of the second group with PSCVD on the basis of obstetric hospital (perinatal center) POSI were performed in the organization, which laid the ideology of the FTS program, strictly individual indications for intervention in the optimal terms of pregnancy, multidisciplinary management of patients, due to this in 93% of operated patients regression of clinical manifestations of the disease was noted, whch contributed to the correct and safe delivery of pregnancy with 100% absence of preterm birth, abnormalities in fetal development, pregnancy course, negative impact on obstetric and somatic condition of the pregnant woman. No hemorrhagic, thrombophlebic, thromboembolic complications were noted. Patients in the postoperative period did not require medical support, as during the period of pregnancy, during delivery and in the postpartum period. There were no indications for surgical delivery. 2.4% of patients experienced complications of post-operative wounds in the form of cheese, which had no effect on pregnancy and was eliminated before delivery. In the postoperative period, if necessary, it was recommended to use elastic compression class garments 1–2. Conclusion. POSI made at PSCVD in optimal terms of pregnancy in a specialized obstetric hospital by a vascular surgeon in strictly individual indications is safe, both for the fetus and the pregnant woman. It is promising to further study the results of POSI in pregnant women with PSCVD to introduce it into the arsenal of treatment of this pathology. Key words: FTS ideology, planned open surgical interventions in pregnant women.


2020 ◽  
Vol 7 (3) ◽  
pp. 404-409
Author(s):  
Inna Sholicha Fitriani ◽  
Nurhidayati Nurhidayati

Pregnancy and abortion can be a stressor that can increase anxiety. The Qur'an is just as a doubt antidote and diseases that are in the chest and it is commonly known as the heart. The Lavender one of essential oil which popular and it is widely used in the field of clinical health which especially addressing psychosomatic in gynecology. The purpose of this research was to determine the potential decrease of anxiety on pregnant women in post-abortion by reading verses syifa and lavender aromatherapy. The research used experimental design of Pre and Post Test-Group with a sample of all pregnant women who had abortion. The total sample was 24 people. The research was conducted in Aisyiyah Hospital and Muhammadiyah Hospital of Ponorogo in Juny - August 2018. The data analysis used T and Wilcoxon test. The result of data analysis were 0,003 <0,05 and there was comparison between potential decrease of anxiety in pregnant women post abortion by reading verses syifa and giving aromatherapy  of lavender.  The comparison showed that the potency of decreasing of anxiety in pregnant woman post abortion by reading ayatus syifa and giving aromatherapy of lavender, 38% decreased anxiety level in pregnant woman post abortion because of lavender therapy and 62% was due to other factor. Then 89%decreased in anxiety level in pregnant woman post abortion because of reading ayatus syifa and 11% due to other factor. Research products can be used as media in the treatment of non pharmacological psikomatic in order to support quality of public health.


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.


2017 ◽  
Vol 68 (10) ◽  
pp. 2234-2236
Author(s):  
Dan Navolan ◽  
Florin Birsasteanu ◽  
Adrian Carabineanu ◽  
Octavian Cretu ◽  
Diana Liana Badiu ◽  
...  

Cigarette smoke contains over 7000 different substances some of them exerting harmful effects on embryo and pregnant woman. Nowadays 15 % of adult people and around 10-15% of pregnant women smoke. Previous studies showed that cigarette smoke compounds could exert pharmacodinamic effects and influence some of the second trimester biochemical markers concentration. Therefore there is a need to adjust the reference values of second trimester markers depending of the smoker status. The aim of our study was to analyse which of the markers are influenced by smoking and whether the software used to calculate the risk for aneuploidies is able to counterbalance this influence. Alpha-fetoprotein (AFP), chorionic gonadotropin hormone (hCG) and free estriol (uE3) values were measured in second trimester sera of 1242 pregnant women: 1089 non-smokers and 153 smokers. Only hCG second trimester values were influenced by smoking whereas AFP and uE3 values were not. The correction of medians according to the smoking status was able to counterbalance this effect.


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.


Author(s):  
Karuna R. M. van der Meij ◽  
Annabel Njio ◽  
Linda Martin ◽  
Janneke T. Gitsels-van der Wal ◽  
Mireille N. Bekker ◽  
...  

AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.


Author(s):  
Bárbara Araújo Marques ◽  
Ericka Vianna Machado Carellos ◽  
Vânia Maria Novato Silva ◽  
Fernando Henrique Pereira ◽  
Maria Regina Lage Guerra ◽  
...  

Abstract Objective Most prenatal screening programs for toxoplasmosis use immunoassays in serum samples of pregnant women. Few studies assess the accuracy of screening tests in dried blood spots, which are of easy collection, storage, and transportation. The goals of the present study are to determine the performance and evaluate the agreement between an immunoassay of dried blood spots and a reference test in the serum of pregnant women from a population-based prenatal screening program for toxoplasmosis in Brazil. Methods A cross-sectional study was performed to compare the immunoassays Imunoscreen Toxoplasmose IgM and Imunoscreen Toxoplasmose IgG (Mbiolog Diagnósticos, Ltda., Contagem, Minas Gerais, Brazil)in dried blood spots with the enzyme-linked fluorescent assay (ELFA, BioMérieux S.A., Lyon, France) reference standard in the serum of pregnant women from Minas Gerais Congenital Toxoplasmosis Control Program. Results The dried blood spot test was able to discriminate positive and negative results of pregnant women when compared with the reference test, with an accuracy of 98.2% for immunoglobulin G (IgG), and of 95.8% for immunoglobulin M (IgM). Conclusion Dried blood samples are easy to collect, store, and transport, and they have a good performance, making this a promising method for prenatal toxoplasmosis screening programs in countries with continental dimensions, limited resources, and a high prevalence of toxoplasmosis, as is the case of Brazil.


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