aneuploidy screening
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2021 ◽  
Author(s):  
Yeganeh Keshvar ◽  
Solmaz Sabeghi ◽  
Zohreh Sharifi ◽  
Kiyana Sadat Fatemi ◽  
Panti Fouladi ◽  
...  

Abstract Background: Preimplantation genetic diagnosis (PGD) has been developed to detect genetic disorders before pregnancy which is usually done on blastomeres biopsied from 8-cell stage embryos obtained from in vitro fertilization method (IVF).Here we report molecular PGD results for diagnosing of beta thalassemia (beta-thal) which are usually accompanied with evaluating chromosomal aneuploidies, HLA typing and sex selection.Methods: In this study, haplotype analysis was performed using short tandem repeats (STRs) in a multiplex nested PCR and the causative mutation was detected by Sanger sequencing.Results: We have performed PGDs on 350 blastomeres from 55 carrier couples; 142 blastomeres for beta-thal only, 75 for beta-thal and HLA typing, 76 for beta-thal in combination with sex selection, and 57 for beta-thal and aneuploidy screening. 150 blastomeres were transferable, 15 pregnancies were happened, and 11 babies born.We used 6 markers for beta-thal, 36 for aneuploidy screening, 32 for sex selection, and 35 for HLA typing. To our knowledge combining all these markers together and the number of STR markers are much more than any other studies which have ever done.Conclusions: PGD is a powerful diagnostic tool for carrier couples who desire to have a healthy child and wish to avoid medical abortion.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ruth M. Farrell ◽  
Madelyn Pierce ◽  
Christina Collart ◽  
Meng Yao ◽  
Marissa Coleridge ◽  
...  

Abstract Background Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guidelines emphasize the importance of informed decision-making and patient’s preferences regarding the use of these screens. Yet, it is unclear how to achieve this ideal as prenatal genetic screening options rapidly become more complex and increasingly available to patients. With increased complexity and availability of reproductive testing options, decision-support strategies are critical to prepare patients to consider AS and/or CS. Methods A self-administered survey evaluated knowledge and decision-making preferences for expanded carrier (CS) and aneuploidy (AS) prenatal screening. The survey was administered to participants before their first prenatal visit to assess baseline decision-making needs and preference at the initiation of prenatal care. Analysis was approached as a descriptive process. Results Participants had similar familiarity with the concepts associated with AS compared to CS; mean knowledge scores for CS was 0.59 [possible range 0.00 to 1.00] and 0.55 for AS. Participants reported preferences to learn about a range of conditions, including those with severe or mild impact, childhood-onset, and adult-onset. Decision-making preference with respect to learning about the associated disease phenotypes for the contained on AS and CS panel shifted with the complexity of the panel, with a greater preference to learn about conditions post-test compared pre-test education as panels increased from 5 to 100 conditions. Conclusion Patients’ baseline knowledge of prenatal genetic screens coupled with evolving decision-making preferences presents challenges for the delivery of prenatal genetic screens. This calls for the development and implementation of innovative approaches to support pregnant patients’ decision-making commensurate with advances in prenatal genomics.


2021 ◽  
Vol 12 ◽  
Author(s):  
Xuechun Wang ◽  
Xiuqiong Zheng ◽  
Jianying Yan ◽  
Rongli Xu ◽  
Mu Xu ◽  
...  

ObjectiveTo establish a model to predict gestational diabetes mellitus (GDM) based on the clinical characteristics, early pregnancy (10-12 weeks gestation) peripheral blood routine, and biochemical indicators, and to explore its predictive efficiencies.MethodsData from 607 pregnant women with GDM were compared to the data from 833 pregnant women without GDM admitted to the Obstetrics Department of Fujian Maternity and Child Health Hospital (affiliated to Fujian Medical University) from May 2018 to December 2018 were retrospectively included. The ages of the pregnant women, paternal ages, number of pregnancies, number of deliveries, pre-pregnancy heights/weights, and the calculated body mass indexes (BMI) were recorded. In all participants, 10-12 weeks of pregnancy, afamin concentration, routine blood work, prenatal aneuploidy screening, and biochemical testing were performed. At weeks 24-28 of gestation, patients underwent oral glucose tolerance test (OGTT) for GDM screening.ResultsMultivariate logistic regression analysis showed that maternal age, early pregnancy afamin level, triglycerides, and platelet/lymphocyte ratio (PLR) were independent risk factors for gestational diabetes. The formula for predicting GDM probability was as follows: P = 1/1 + exp( − 6.054 + 0.774 × triglycerides + 0.002 × afamin + 0.155 × age − 0.012 × PLR)]. From the established ROC curve, the area under the curve (AUC) was 0.748, indicating that the model has a good degree of discrimination. When the predictive probability cut-off value was set on 0.358, sensitivity, specificity, positive predictive value, and negative predictive value were 69.2%, 68.3%, 42.5%, and 86.2%, respectively, and the accuracy rate was 70.2%. The Hosmer-Lemeshow test results showed that the goodness of the model fit has a good calibration ability (χ2 = 12.269, df=8, P=0.140).ConclusionsMaternal age, early pregnancy afamin level, triglycerides, and PLR are independent risk factors for gestational diabetes. When combined, the above indicators are helpful for prediction, early diagnosis, and intervention of gestational diabetes.


2021 ◽  
Vol 3 (2) ◽  
Author(s):  
Ali Najafi ◽  
Seyed Mohammad Akrami

: Prenatal screening of different anomalies including chromosomal aneuploidies have become a part of routine pregnancy care in most countries around the world. These tests can help pregnant mothers to have informed decisions. In this study we gathered relevant scientific and governmental/official data about uptake rate of these screenings in different developed countries and Iran. We have tried to use the latest articles and reports, and also consider to the global trend of screening and abortion policies in developed countries. Also, some pitfalls when comparing prenatal screening of different countries will be explained. These data can help to have a better insight about Iran’s prenatal screening status when compared with developed countries to improve public health policies.


Diagnostics ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1837
Author(s):  
Ritsuko Kimata Pooh ◽  
Chika Masuda ◽  
Risa Matsushika ◽  
Megumi Machida ◽  
Takako Nakamura ◽  
...  

Background: Noninvasive prenatal genetic testing (NIPT) has been adopted as the first choice for aneuploidy screening. The purposes of this study were to investigate the accuracy of Vanadis® NIPT (hereafter CRITO-NIPT) in order to gain a deeper insight into the reasons for discrepancies, as well as to discuss the role of fetal ultrasound. Methods: Between 2019 and 2020, CRITO-NIPT was performed in 1218 cases of patients who underwent CVS or amniocentesis after a detailed fetal ultrasound exam and genetic counseling. The CRITO-NIPT results were compared with the genetic results. In cases of test discrepancies, the placentae were collected for detailed genetic research, and the pre-procedure fetal ultrasound findings were referred to. Results: The positive predictive value of T21, T18, and T13 was 93.55%, 88.46%, and 100%, respectively. In 90% of the of false positive (FP) cases, the placentae were examined. In 75% of the CRITO FP-T21 cases, placental mosaicism, or a demised twin’s T21, were confirmed. There were complicated mosaic cases, including tetrasomy 21/trisomy7 and monosomy 21/trisomy21 cases. In one of three no-call cases, an intermediate deletion of chromosome 13 was detected. Conclusions: The CRITO study investigated the mechanism of false positives, and the detailed mechanisms in mosaic and no-call cases. There have hitherto been no reports that have provided insight by partitioning the placenta to compare the NIPT and invasive test results, nor that have provided detailed ultrasound findings in the cases of discordant results, revealing the demonstrated importance of, and necessity for, detailed ultrasonography. This article describes the potential of rolling-circle replication as a powerful biosensing platform, as well as the importance of examining the fetus in detail with ultrasound. However, we should remember that the potential applications raise ethical and social concerns that go beyond aneuploidy and its methodology.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Francesca Monari ◽  
Daniela Menichini ◽  
Ludovica Spano’ Bascio ◽  
Giovanni Grandi ◽  
Federico Banchelli ◽  
...  

Abstract Background Large for gestational age infants (LGA) have increased risk of adverse short-term perinatal outcomes. This study aims to develop a multivariable prediction model for the risk of giving birth to a LGA baby, by using biochemical, biophysical, anamnestic, and clinical maternal characteristics available at first trimester. Methods Prospective study that included all singleton pregnancies attending the first trimester aneuploidy screening at the Obstetric Unit of the University Hospital of Modena, in Northern Italy, between June 2018 and December 2019. Results A total of 503 consecutive women were included in the analysis. The final prediction model for LGA, included multiparity (OR = 2.8, 95% CI: 1.6–4.9, p = 0.001), pre-pregnancy BMI (OR = 1.08, 95% CI: 1.03–1.14, p = 0.002) and PAPP-A MoM (OR = 1.43, 95% CI: 1.08–1.90, p = 0.013). The area under the ROC curve was 70.5%, indicating a satisfactory predictive accuracy. The best predictive cut-off for this score was equal to − 1.378, which corresponds to a 20.1% probability of having a LGA infant. By using such a cut-off, the risk of LGA can be predicted in our sample with sensitivity of 55.2% and specificity of 79.0%. Conclusion At first trimester, a model including multiparity, pre-pregnancy BMI and PAPP-A satisfactorily predicted the risk of giving birth to a LGA infant. This promising tool, once applied early in pregnancy, would identify women deserving targeted interventions. Trial registration ClinicalTrials.gov NCT04838431, 09/04/2021.


Author(s):  
Cenk Soysal ◽  
İsmail Biyik ◽  
Özlem Erten ◽  
Onur Ince ◽  
Hatice Sari ◽  
...  

OBJECTIVE: We aimed to determine the relationship between the first-trimester aneuploidy screeningma and the predicted weight at birth: Small for gestational age and large for gestational age. STUDY DESIGN: 594 low-risk pregnant women with a singleton pregnancy, who underwent first-trimester aneuploidy screening by measuring nuchal translucency, maternal serum free beta-human chorionic gonadotropin, and pregnancy-associated plasma protein-A were included in the study. Those weighing above the 3rd percentile and below the 10th percentile were defined as small for gestational age, and those over the 90th percentile were defined as large for gestational age. RESULTS: A total of 594 pregnant women were enrolled. The mean maternal age of the studied group was 28.8±5.5 years. Low maternal serum pregnancy-associated plasma protein-A levels and decreased nuchal translucency measurements were associated with the small for gestational age newborn (p<0.001 and p=0.001, respectively). There is a significant correlation with large for gestational age for newborns only with an increase in maternal serum pregnancy-associated plasma protein-A levels (p=0.001). beta-human chorionic gonadotropin levels were not associated with the birth weight (p=0.735). CONCLUSION: Maternal serum pregnancy-associated plasma protein-A levels, one of the markers in first-trimester aneuploidy screening, can be used in the prediction of small for gestational age and large for gestational age However, due to its low correlation, it is not a suitable screening test for clinical practice.


2021 ◽  
Author(s):  
Ruth Farrell ◽  
Madelyn Pierce ◽  
Christina Collart ◽  
Meng Yao ◽  
Marissa Coleridge ◽  
...  

Abstract Background: Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guidelines emphasize the importance of informed decision-making and patient’s preferences regarding the use of these screens. Yet, it is unclear how to achieve this ideal as prenatal genetic screening options rapidly become more complex and increasingly available to patients. With increased complexity and availability of reproductive testing options, decision-support strategies are critical to prepare patients to consider AS and/or CS.Methods: A self-administered survey evaluated knowledge and decision-making preferences for expanded carrier (CS) and aneuploidy (AS) prenatal screening. The survey was administered to participants before their first prenatal visit to assess baseline decision-making needs and preference at the initiation of prenatal care. Analysis was approached as a descriptive process. Results: Participants had similar familiarity with the concepts associated with AS compared to CS; mean knowledge scores for CS was 0.59 [possible range 0.00 to 1.00] and 0.55 for AS. Participants reported preferences to learn about a range of conditions, including those with severe or mild impact, childhood-onset, and adult-onset. Decision-making preference with respect to learning about the associated disease phenotypes for the contained on AS and CS panel shifted with the complexity of the panel, with a greater preference to learn about conditions post-test compared pre-test education as panels increased from 5-100 conditions. Conclusion: Patients’ baseline knowledge of prenatal genetic screens coupled with evolving decision-making preferences presents challenges for the delivery of prenatal genetic screens. This calls for the development and implementation of innovative approaches to support pregnant patients’ decision-making commensurate with advances in prenatal genomics.


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.


2021 ◽  
Author(s):  
Christina D. Yarrington ◽  
Carolyn Smith‐Lin ◽  
Rachel Neuhalfen ◽  
Amresh Hanchate ◽  
Philip Connors ◽  
...  

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