Dataset Information

Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

ABSTRACT: Demands for expanded carrier screening (ECS) are growing and ECS is becoming an important part of obstetrics practice and reproductive planning. The aim of this study is to evaluate the feasibility of a small-size ECS panel in clinical implementation and investigate Chinese couples' attitudes towards ECS. An ECS panel containing 11 recessive conditions was offered to Chinese pregnant women below 16 gestational weeks. Sequential testing of their partners was recommended for women with a positive carrier status. The reproductive decision and pregnancy outcome were surveyed for at-risk couples. A total of 1321 women performed ECS successfully and the overall carrier rate was 19.23%. The estimated at-risk couple rate was 0.83%. Sequential testing was performed in less than half of male partners. Eight at-risk couples were identified and four of them performed prenatal diagnosis. Our study demonstrated that a small-size ECS panel could yield comparable clinical value to a larger-size panel when the carrier rate of the individual condition is equal or greater than 1%. In addition, more than half of male partners whose wives were carriers declined any types of sequential testing possibly due to a lack of awareness and knowledge of genetic disorders. Genetic education is warranted for the better implementation of ECS.

SUBMITTER: Shi M

PROVIDER: S-EPMC8066122 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Shi Mengmeng M Liauw Angeline Linna AL Tong Steve S Zheng Yu Y Leung Tak Yeung TY Chong Shuk Ching SC Cao Ye Y Lau Tze Kin TK Choy Kwong Wai KW Chung Jacqueline P W JPW

Genes 20210329 4

Demands for expanded carrier screening (ECS) are growing and ECS is becoming an important part of obstetrics practice and reproductive planning. The aim of this study is to evaluate the feasibility of a small-size ECS panel in clinical implementation and investigate Chinese couples' attitudes towards ECS. An ECS panel containing 11 recessive conditions was offered to Chinese pregnant women below 16 gestational weeks. Sequential testing of their partners was recommended for women with a positive ...[more]

PMID: 33805278

Similar Datasets

Project description:ObjectiveRecessive genetic diseases impose physical and psychological impacts to both newborns and parents who may not be aware of being carriers. Expanded carrier screening (ECS) allows screening for multiple genetic conditions at the same time. Whether or not such non-targeted panethnic approach of genetic carrier screening should replace the conventional targeted approach remains controversial. There is limited data on view and acceptance of ECS in general population, as well as the optimal timing of offering ECS to women. This study assesses views and acceptance of ECS in both pregnant women and non-pregnant women seeking fertility counseling or checkup and their reasons for accepting or declining ECS.Materials and methodsThis is a questionnaire survey with ECS information in the form of pamphlets distributed from December 2016 to end of 2018. Women were recruited from the antenatal clinics and the assisted reproductive unit at the Department of Obstetrics and Gynaecology, Queen Mary Hospital and the prepregnancy counseling clinic at the Family Planning Association of Hong Kong.ResultsA total of 923 women were recruited: 623 pregnant women and 300 non-pregnant women. There were significantly more non-pregnant women accepting ECS compared to pregnant women (70.7% vs. 61.2%). Eight hundred and sixty-eight (94%) women perceived ECS as at least as effective as or superior to traditional targeted screening. Significantly more pregnant women have heard about ECS compared with non-pregnant women (42.4% vs. 32.3%, P = 0.0197). Majority of women showed lack of understanding about ECS despite reading pamphlets that were given to them prior to filling in the questionnaires. Cost of ECS was a major reason for declining ECS, 28% (n = 256). Significantly more pregnant women worried about anxiety caused by ECS compared with the non-pregnant group (21.1% vs. 7.4%, P = 0.0006).ConclusionOur study demonstrates that expanded carrier screening was perceived as a better screening by most women. Prepregnancy ECS maybe a better approach than ECS during pregnancy, as it allows more reproductive options and may cause less anxiety. Nevertheless, implementation of universal panethnic ECS will need more patient education, ways to reduce anxiety, and consensus on optimal timing in offering ECS.

Project description:Gestational diabetes mellitus (GDM) is closely related to adverse pregnancy outcomes and other diseases. Early intervention in pregnant women who are at high risk of developing GDM could help prevent adverse health consequences. The study aims to develop a simple model using the stacking ensemble method to predict GDM for women in the first trimester based on easily available factors. We used the data from the Chinese Pregnant Women Cohort Study from July 2017 to November 2018. A total of 6,848 pregnant women in the first trimester were included in the analysis. Logistic regression (LR), random forest (RF), and extreme gradient boosting (XGBoost) were considered as base learners. Optimal feature subsets for each learner were chosen by using recursive feature elimination cross-validation. Then, we built a pipeline to process imbalance data, tune hyperparameters, and evaluate model performance. The learners with the best hyperparameters were employed in the first layer of the proposed stacking method. Their predictions were obtained using optimal feature subsets and served as meta-learner's inputs. Another LR was used as a meta-learner to obtain the final prediction results. Accuracy, specificity, error rate, and other metrics were calculated to evaluate the performance of the models. A paired samples t-test was performed to compare the model performance. In total, 967 (14.12%) women developed GDM. For base learners, the RF model had the highest accuracy (0.638 (95% confidence interval (CI) 0.628-0.648)) and specificity (0.683 (0.669-0.698)) and lowest error rate (0.362 (0.352-0.372)). The stacking method effectively improved the accuracy (0.666 (95% CI 0.663-0.670)) and specificity (0.725 (0.721-0.729)) and decreased the error rate (0.333 (0.330-0.337)). The differences in the performance between the stacking method and RF were statistically significant. Our proposed stacking method based on easily available factors has better performance than other learners such as RF.

Project description:IntroductionFragile X syndrome (FXS) is the leading cause of inherited intellectual and developmental disability. Policy development relating to carrier screening programmes for FXS requires input from large studies examining not only test uptake but also psychosocial aspects. This study will compare carrier screening in pregnant and non-pregnant populations, examining informed decision-making, psychosocial issues and health economics.Methods and analysisPregnant and non-pregnant women are being recruited from general practices and obstetric services. Women receive study information either in person or through clinic mail outs. Women are provided pretest counselling by a genetic counsellor and make a decision about testing in their own time. Data are being collected from two questionnaires: one completed at the time of making the decision about testing and the second 1 month later. Additional data are gathered through qualitative interviews conducted at several time points with a subset of participating women, including all women with a positive test result, and with staff from recruiting clinics. A minimum sample size of 500 women/group has been calculated to give us 88% power to detect a 10% difference in test uptake and 87% power to detect a 10% difference in informed choice between the pregnant and non-pregnant groups. Questionnaire data will be analysed using descriptive statistics and multivariate logistic regression models. Interview data will be thematically analysed. Willingness-to-pay and cost effectiveness analyses will also be performed. Recruitment started in July 2009 and data collection will be completed by December 2013.Ethics and disseminationEthics approval has been granted by the Universities of Melbourne and Western Australia and by recruiting clinics, where required. Results will be reported in peer-reviewed publications, conference presentations and through a website http://www.fragilexscreening.net.au. The results of this study will make a significant contribution to discussions about the wider introduction of population carrier screening for FXS.

Project description:BackgroundGrowing evidence suggests that dietary acid load plays an important role in the development of type 2 diabetes. However, prospective studies on the relationship between dietary acid load and gestational diabetes mellitus (GDM) are limited in the pregnant population. This study aimed to investigate the effect of dietary acid load during early pregnancy on the risk of GDM in Chinese pregnant women.MethodsA total of 1,327 pregnant women were enrolled from an ongoing prospective study of the Tongji Birth cohort (TJBC) in Wuhan, China. Dietary intake was assessed before 20 weeks using a 74-item semiquantitative food frequency questionnaire (FFQ). The dietary acid load was estimated using potential renal acid load (PRAL), net endogenous acid production (NEAP), and animal protein to potassium ratio (A:P ratio). A 75g 2-h oral glucose tolerance test (OGTT) was performed at 24-28 gestational weeks to diagnose GDM.ResultsThe mean (standard deviation) values for PRAL score, NEAP score, and A:P ratio were 0.8 ± 11.3 mEq/day, 45.3 ± 16.5 mEq/day, and 9.8 ± 6.0, respectively. There was a significant positive correlation of dietary acid load with the intake of red meat, poultry, fish, and eggs, and a negative correlation with the intake of vegetables, fruits, nuts, and legumes (all P < 0.05). Compared to the lowest tertile, the highest tertile of dietary acid load, including PRAL score (odds ratio [OR]: 2.26, 95% confidence interval [CI] = 1.38-3.71, P-trend = 0.002), NEAP score (OR: 2.02, 95% CI = 1.25-3.27, P-trend = 0.009), and A:P ratio (2.08, 95% CI = 1.30-3.31, P-trend = 0.005), significantly increased the risk of GDM. In addition, the dietary acid load was also significantly associated with an increase in 1-h and 2-h post-load blood glucose concentrations (all P-trend < 0.05).ConclusionWe found a significant positive association between dietary acid load during early pregnancy and the risk of GDM in a Chinese population, suggesting that the reduction of food sources of dietary acid load may be an effective strategy for preventing the risk of GDM.

Dataset Information

Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Publications

Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets