Dataset Information

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

ABSTRACT: BACKGROUND:Expanded carrier screening (ECS) has emerged as an effective approach to identify at-risk couples (ARCs)-before they initiate attempts at reproduction-who possess a high probability of having a child affected by severe recessive diseases. The objective of this study was to evaluate the clinical utility of ECS in Chinese patients seeking the help of assisted reproductive technology (ART). METHODS:An ECS test, which covers 201 genes implicated in 135 recessive (autosomal or X-linked) diseases, was routinely offered to all ART patients in a single genetics and in vitro fertilization clinic. Additional options for preimplantation or prenatal genetic diagnosis were discussed and offered to all ARCs. All ECS results were aggregated and the clinical decisions of the ARCs were surveyed. RESULTS:A total of 2,923 ART patients, representing 1,462 couples, were screened. Overall, 46.73% of the individuals were found to be the carriers for at least 1 of the 135 diseases. Of the tested couples, 2.26% (n = 33) were identified as ARCs. As of the completion of this study, 21 (63.6%) ARCs have decided to avert an affected pregnancy with the help of preimplantation genetic testing for monogenetic conditions. The cumulative carrier rate of the 187 autosomal recessive genes in the ECS panel for the 2,836 Han Chinese individuals without a family history was estimated to be 45.91%. The estimated at-risk couple rate indicates that the screening for only the top 31 genes with gene carrier rates >0.5% would identify more than 94% of the ARCs identified by screening all 187 genes. CONCLUSION:Our study demonstrates that ESC yields a significant clinical value for ART patients in China. In addition, by estimating the yields of the ECS panel, we identify genes that are appropriate for screening the Han population.

SUBMITTER: Xi Y

PROVIDER: S-EPMC7507411 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Yanping Y Chen Guangquan G Lei Caixia C Wu Junping J Zhang Shuo S Xiao Min M Zhang Wenbi W Zhang Yueping Y Sun Xiaoxi X

Molecular genetics & genomic medicine 20200623 9

<h4>Background</h4>Expanded carrier screening (ECS) has emerged as an effective approach to identify at-risk couples (ARCs)-before they initiate attempts at reproduction-who possess a high probability of having a child affected by severe recessive diseases. The objective of this study was to evaluate the clinical utility of ECS in Chinese patients seeking the help of assisted reproductive technology (ART).<h4>Methods</h4>An ECS test, which covers 201 genes implicated in 135 recessive (autosomal ...[more]

PMID: 32573981

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Project description:BackgroundThe stepped care model for psychological distress has been promoted in recent years, leading to the enhancing roles of primary care professionals and alternative sources of help. However, most of the research findings come from Western countries. This study investigates help-seeking behaviours of Chinese patients among different types of professional and alternative sources for psychological distress in Hong Kong.MethodsA questionnaire survey was conducted with 1626 adult primary care attenders from 13 private and 6 public clinics, 650 (40.0%) reported that they had ever experienced psychological distress. Their help-seeking behaviours, demographic background and current distress level (measured by GHQ-12) were analysed.ResultsAmong the respondents with experience of psychological distress, 48.2% had sought help from professional and/or alternative sources for their distress [10.2% from professionals only, 12.6% from alternative sources only, and 25.4% from both]. Those who had sought help from professionals only were more likely to be less educated and with lower income. In contrast, those using alternative sources only were more likely to be younger, better educated, and have higher income. Allowing multiple responses, psychiatrists (22.3%) was reported to be the most popular professional source, followed by primary care physicians (17.5%), clinical psychologists (12.8%) and social workers/counsellors (12.0%). Family members/friends (28.6%) was the top alternative source, followed by exercise/sports (21.8%), religious/spiritual support (16.9%) and self-help websites/books/pamphlets (8.9%).ConclusionWhile psychiatrists remain the most popular professional source of help to the Chinese patients in Hong Kong, primary care professionals and alternative sources also play significant roles. Distressed patients who are younger, better educated and have higher income are more likely to use alternative sources only. The outcomes need further research.

Project description:BackgroundIt has been consistently shown in several meta-analyses that infants born after ART have an excess of birth defects compared with those after spontaneous conception, however, the prevalence of birth defects among ART offspring in China is incompletely studied. Moreover, it is unclear to what extent the risk of birth defects is associated with parental infertility characteristics, specific ART procedures and twinning.MethodsIn the prospective cohort study, we included women who participated in the cohort, and had pregnancies of at least 20 gestational weeks between August 2016 and May 2019, and followed them until their children reached 1 year of age. Exposures of interest were ART, as well as infertility-related characteristics, certain ART procedures and specific medication usage. The primary outcome was birth defects including both major and minor defects, which we analysed with logistic generalized estimating equations to investigate the association with ART and certain ART characteristics.FindingsA total of 1,825 women with ART-pregnancy and 3,483 women with spontaneous-pregnancy were included in the analysis. The prevalence of any defects was significantly higher among ART-births than their non-ART counterparts at each follow-up, specifically at prenatal screening (2•2% vs. 1•2%), at delivery (4•9% vs. 2•9%), at 6 months (10•4% vs. 5•3%) and 1 year of age (13•9% vs. 7•0%), and the associations between ART and increased risk of birth defects at each follow-up were similarly robust. Among ART-births, GnRH antagonist regimen for ovulation induction in women was associated with an increased risk of birth defects in their offspring after taking into account potential influencing factors (Multivariable model: adjusted risk ratio [aRR] 1•47, 1•04-2•07). Additionally, mediation through twinning accounted for 31•1% of the risk of ART-associated birth defects.InterpretationThe results suggest that ART confers an increased risk for birth defects in offspring. The risk is partly attributable to infertility characteristics, certain ovulation induction regimen, and to some extent mediated by twinning. Our findings highlight the importance of long-term follow-up of children conceived via ART for health conditions.FundingNational Key Research and Development Program of China, National Natural Science Foundation of China and Natural Science Foundation of Jiangsu Province.

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Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Publications

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

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