The Effect of Inhibin A on Prenatal Screening Results for Down Syndrome in the High Risk Czech Pregnant Women

2019 ◽  
Vol 65 (05/2019) ◽  
Author(s):  
Jaroslav Loucký ◽  
Silvie Bělášková ◽  
Richard Průša ◽  
Karel Kotaška
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Inhibin A

scholarly journals Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Predictive Value ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Advanced Maternal Age ◽  
Youden Index ◽  
Non Invasive ◽  
Sensitivity Specificity

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.

scholarly journals Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

2021 ◽  
Author(s):  
Karuna R. M. van der Meij ◽  
Annabel Njio ◽  
Linda Martin ◽  
Janneke T. Gitsels-van der Wal ◽  
Mireille N. Bekker ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Screening Program ◽  
Informed Choice ◽  
Aneuploidy Screening ◽  
Non Invasive ◽  
Fetal Aneuploidy ◽  
Societal Pressure ◽  
Prenatal Test

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.

Desirable features in a decision aid for prenatal screening – what do pregnant women and their partners think? A mixed methods pilot study

2020 ◽  
Author(s):  
Titilayo Tatiana Agbadje ◽  
Samira Abbasgholizadeh Rahimi ◽  
Mélissa Côté ◽  
Andrée-Anne Tremblay ◽  
Mariama Penda Diallo ◽  
...  
Keyword(s):  
Decision Making ◽  
Down Syndrome ◽  
Mixed Methods ◽  
Pilot Study ◽  
Pregnant Women ◽  
Technology Acceptance ◽  
Decision Aid ◽  
Prenatal Screening ◽  
Values Clarification ◽  
Quebec City

Abstract Background To help pregnant women and their partners make informed value-congruent decisions about Down syndrome prenatal screening, our team developed two successive versions of a decision aid (DAv2017 and DAv2014). We aimed to assess pregnant women and their partners’ perceptions of the usefulness of the two DAs for preparing for decision making, their relative acceptability and their most desirable features. Methods This is a mixed methods pilot study. We recruited participants of study (women and their partners) when consulting for prenatal care in three clinical sites in Quebec City. To be eligible, women had to: (a) be at least 18 years old; (b) be more than 16 weeks pregnant; or having given birth in the previous year and (c) be able to speak and write in French or English. Both women and partners were invited to give their informed consent. We collected quantitative data on the usefulness of the DAs for preparing for decision making and their relative acceptability. We developed an interview grid based on the Technology Acceptance Model and Acceptability questionnaire to explore their perceptions of the most desirable features. We performed descriptive statistics and deductive analysis. Results Overall, 23 couples and 16 individual women participated in the study. The majority of participants were between 25 and 34 years old (79% of women and 59% of partners) and highly educated (66.7% of women and 54% of partners had a university-level education). DAv2017 scored higher for usefulness for preparing for decision making (86.2 ± 13 out of 100 for DAv2017 and 77.7 ± 14 for DAv2014). For most dimensions, DAv2017 was more acceptable than DAv2014 (e.g. the amount of information was found “just right” by 80% of participants for DAv2017 against 56% for DAv2014). However, participants preferred the presentation and the values clarification exercise of DAv2014. In their opinion, neither DA presented information in a completely balanced manner. They suggested adding more information about raising Down syndrome children, replacing frequencies with percentages, different values clarification methods, and a section for the partner. Conclusions A new user-centered version of the prenatal screening DA will integrate participants’ suggestions to reflect end users’ priorities.

scholarly journals An Intelligent Prenatal Screening System for the Prediction of Trisomy-21 Using Triple Test Variables: The Hacettepe System

2018 ◽  
pp. 1
Author(s):  
Doruk Cevdi Katlan ◽  
Atakan Tanacan ◽  
Gokcen Orgul ◽  
Kemal Leblebicioglu ◽  
Mehmet Sinan Beksac
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Learning Algorithm ◽  
Antenatal Screening ◽  
Screening System ◽  
Triple Test ◽  
Beta Human Chorionic Gonadotropin ◽  
Input Variables

<p><strong>Objective:</strong> To introduce an intelligent prenatal screening system, using triple test variables.</p><p><strong>Study Design:</strong> In this study, we have used a backpropagation learning algorithm (a supervised artificial neural network) to develop an intelligent antenatal screening system (heretofore referred as Hacettepe System). Triple test variables were used as input variables, while “Down syndrome” and “non-Down syndrome” fetuses were the output of the algorithm. Unconjugated estriol (E3), beta-human chorionic gonadotropin, and α-feto protein with gestational week and maternal age (triple test) were used as input variables in the training and testing. Multiples of median values of the E3, α-feto protein, and beta-human chorionic gonadotropin were used in this study. <br />The testing group of Hacettepe system consisted of 97 patients who were found to be high-risk (&gt;1/250) during the routine antenatal screening (triple test) and underwent amniocentesis for fetal karyotyping. </p><p><strong>Results:</strong> Amniocentesis was performed in 97 pregnancies with “high-risk” triple test results (&gt;1/250). Fetal karyotyping revealed trisomy 21 in about 9.3% (9/97) of the pregnancies. Our algorithm (Hacettepe System) detected 77.8% (7/9) of Down syndrome cases. Moreover, all of the normal fetal karyotypes were assigned as normal in the Hacettepe System.</p><p><strong>Conclusion:</strong> We have developed an intelligent system using the backpropagation learning algorithm (using triple test variables) to predict trisomy 21.</p>

scholarly journals Potential screening strategies for early prediction of pre-eclampsia

2021 ◽  
Vol 10 (4) ◽  
pp. 1436
Author(s):  
Hymavathi K. ◽  
Sandhya Rani Davuluru ◽  
Sameera Shaik ◽  
Sahithi Kaviti
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Uterine Artery ◽  
Strong Association ◽  
First Trimester ◽  
Maternal Serum ◽  
Screening Tools ◽  
Early Prediction ◽  
Inhibin A ◽  
Study Results

Background: This study was conducted to evaluate the efficacy of different biochemical and biophysical markers in the early weeks of gestation as screening tools for early prediction of preeclampsia.Methods: This hospital-based prospective observational study conducted on 52 pregnant women, at less than 13 weeks of gestation were recruited. Maternal serum inhibin A and USG uterine artery PI levels were analyzed among the pregnant women who subsequently developed PE and compare with those who did not develop PE. Methods used for the detection of markers were: chemiluminescence immunoassay (CLIA) for serum inhibin A levels, and uterine artery Doppler velocimetry was done by PHILIPS HD11XE transabdominal ultrasound machine using a 4-6 MHz probe with the same sonographer.Results: The present study revealed a significant rise of inhibin A in preeclamptic women when compared to normotensive women (p<0.0001). The mean levels of 1st and 2nd trimester uterine artery PI significantly high in women who subsequently developed PE when compared to those who did not develop preeclampsia (p<0.0001). Study results showed a strong association between gestational age at delivery and neonatal outcome (neonatal birth weight and APGAR) with preeclampsia. The maternal serum inhibin A, and uterine artery PI found to have good sensitivity and specificity for early prediction of PE.Conclusions: Study concluded that the women who are prone to develop PE subsequently, had high levels of MAP, UAPI, inhibin A. In our setting, MAP, UAPI, inhibin A, appeared to be better screening modalities. Combination of the biochemical markers with the biophysical markers, demographic characteristics, and other novel markers will establish the effective screening models for early prediction of PE. Early identification of high-risk cases will offer an opportunity for prophylactic therapy, such as Low- dose Aspirin in selected groups of high-risk women screened in the first trimester, thus improving the maternal and perinatal outcome.

Association of abnormal fetal echocardiography with some obstetric records

2021 ◽  
Vol 29 (8) ◽  
pp. 448-452
Author(s):  
Mahin Najafian ◽  
Mojgan Barati ◽  
Sareh Aberumand ◽  
Nahal Nasehi ◽  
Abdolrahman Emami-moghaddam
Keyword(s):  
Down Syndrome ◽  
Retrospective Study ◽  
High Risk ◽  
Pregnant Women ◽  
Significant Relationship ◽  
Screening Test ◽  
Fetal Echocardiography ◽  
Aneuploidy Screening ◽  
Previous Child ◽  
History Of

Background To evaluate the history of some obstetrical records of pregnant women who were referred for fetal echocardiography for any reason. Methods This was a retrospective study on 1772 documents of referred pregnant women, which was conducted in Narges diagnostic clinic staff (Ahvaz city, Iran) from 2017-2020. In this study, all document data of pregnant women who referred for fetal echocardiography for any reason have been reviewed. Results Our study showed that there is a significant relationship between abnormal fetal echocardiography with history of miscarriage, stillbirth and a previous child with Down syndrome. Conclusion Although our study showed that abnormal fetal echocardiography was associated with stillbirth, miscarriage, and a history of having a previous child with Down syndrome, but many cases had abnormal echocardiography didn't have a history of having a previous child with CHD, increased NT and high-risk aneuploidy screening test.

Web-based Training for Nurses on Shared Decision-Making and Prenatal Screening for Down Syndrome: a Controlled Trial (Preprint)

2021 ◽  
Author(s):  
Alex Poulin Herron ◽  
Titilayo Tatiana Agbadje ◽  
Sabrina Guay-Bélanger ◽  
Gérard Ngueta ◽  
Geneviève Roch ◽  
...  
Keyword(s):  
Decision Making ◽  
Down Syndrome ◽  
Pregnant Women ◽  
Training Program ◽  
Prenatal Screening ◽  
Intervention Group ◽  
Control Group ◽  
Intention To Use ◽  
Shared Decision ◽  
Web Based

BACKGROUND Background: Nurses provide maternity care and thus play an important role in supporting pregnant women making decisions about prenatal screening for Down syndrome. We developed a web-based shared decision making (SDM) training program for health professionals focusing on Down syndrome screening decisions. OBJECTIVE Objective: We assessed the impact of a SDM training program on nurses’ intention to use a decision aid with pregnant women deciding about prenatal screening for Down syndrome. METHODS Methods: In this 2-arm parallel controlled trial, French-speaking nurses working with pregnant women in the province of Quebec were recruited online by a private survey firm. They were conveniently allocated either to the intervention group (web-based SDM training program that included prenatal screening) or to the control group (web-based training program focusing on prenatal screening alone, with no SDM content). The primary outcome was intention to use a decision aid. Secondary outcomes were psychosocial variables of intention (e.g. social influence), as well as knowledge, satisfaction, acceptability, perceived usefulness and reaction to the pedagogical approach. All outcomes were self-assessed through online questionnaires including space for written comments. No blinding was performed. We used Student's t test and Fisher's exact test to compare continuous and categorical variables between groups. RESULTS Results: Of 57 participants assessed for eligibility, 40 were allocated to the intervention (n=20) or control group (n=20) and 36 (n=18 in each) completed the training program. Mean age of participants was 41 years (SD 9). Most were women (97.5%), Caucasian (95%), clinical nurses (70%), and had completed a baccalaureate degree (65%). Post-intervention, the mean score of intention was 6.3 (5.9; 6.7) for the intervention group and 6.0 (5.42; 6.64) for the control group. The difference in intention score and other psychosocial variables score between groups was not statistically significant. Knowledge scores about SDM were significantly different (79% in the intervention group, 64% in the control group, p=0.009). There was no significant difference in overall satisfaction [4.4 (SD 0.7) in the intervention group and 4.5 (SD 0.9)] in the control group and perceived usefulness [4.6 (SD 0.4) in the intervention group and 4.4 (SD 0.5)] in the control group. Acceptability of the training program showed a statistically significant difference [4.6 (SD 0.4) in the intervention group and 4.3 (SD 0.4) in the control group; p=0.02] as well as reaction to the pedagogical approach [4.7 (SD 0.4) in the intervention group and 4.4 (SD 0.4) in the control group; p=0.02]. Seventeen participants also gave written comments on the training. CONCLUSIONS Conclusions: Nurses’ intention to use SDM in prenatal care is already high, with training or without, but their knowledge about SDM could be improved with SDM training. Our results will inform future strategies to implement shared decision-making among nurses. CLINICALTRIAL Trial Registration: ClinicalTrials.gov NCT04162288; https://clinicaltrials.gov/ct2/show/NCT04162288?term=NCT04162288&draw=2&rank=1

scholarly journals Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Savitree Pranpanus ◽  
Kanokkarn Keatkongkaew ◽  
Manaphat Suksai
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Intraclass Correlation ◽  
Nasal Bone ◽  
Reference Ranges ◽  
Second Trimester ◽  
2D Ultrasound ◽  
Down Syndrome Screening

Abstract Background To establish the reference ranges and evaluate the efficacy of the fetal facial sonomarkers prenasal thickness (PT), nasal bone length (NBL), PT/NBL ratio and NBL/PT ratio for Down syndrome screening in the second trimester of high-risk pregnancies using two-dimensional (2D) ultrasound. Methods A prospective study was done in Thai pregnant women at high risk for structural and chromosomal abnormalities between May 2018 and May 2019. The main exclusion criteria were any fetal anatomical anomaly detected on ultrasonography or postpartum examination, abnormal chromosome or syndrome other than Down syndrome. Ultrasounds were performed in 375 pregnant women at 14 to 22 weeks’ gestation and the fetal facial parameters were analyzed. Down syndrome results were confirmed by karyotyping. The reference ranges of these facial ultrasound markers were constructed based on the data of our population. The Down syndrome screening performance using these facial ultrasound markers was evaluated. Results In total, 340 euploid fetuses and 11 fetuses with Down syndrome met the inclusion criteria. The PT, NBL, and PT/NBL ratios in the euploid fetuses gradually increased with gestation progression while the NBL/PT ratio gradually decreased between 14–22 weeks’ gestation. The NBL, PT/NBL ratio, and NBL/PT ratio all had 100% sensitivity and PT had 91% sensitivity. These facial markers had 100% negative predictive value for Down syndrome screening in the second trimester. The Bland–Altman analysis showed the intra- and inter-observer variations of PT and NBL had high intraclass correlation coefficients (ICC) in both operators, with ICCs of 0.98 and 0.99 and inter-observer ICCs of 0.99 for both operators. Conclusion The facial ultrasound markers are very useful for second trimester Down syndrome screening in our population. These facial ultrasound markers were easily identifiable and highly consistent either intra- or inter-operator by using widely-available 2D ultrasound. However, the reference ranges for these markers need to be constructed based on individual populations. Trial registration Registration number: REC 61–029-12–3. Date of registration: 18 May 2018.

Effect of smoking status on inhibin-A in second-trimester prenatal screening for Down syndrome

2014 ◽  
Vol 34 (4) ◽  
pp. 406-407
Author(s):  
Wayne Huttly ◽  
Jonathan Bestwick ◽  
Nicholas Wald
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
Smoking Status ◽  
Second Trimester ◽  
Inhibin A
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