Reproductive Decisions Research Articles

“Fertility fear” on Chinese social media: The disciplined female reproductive bodies and resistance towards motherhood

ABSTRACT Despite China’s shift to the ‘comprehensive two-child’ policy in 2019, fertility rates continue to decline. This study examines the discourse of ‘fertility fear’ (kongyu 恐育) among young, unmarried Chinese women, particularly on social media platforms like Weibo, RED, and Douban. By analysing trending hashtags such as #Marriage and Fertility Fear, the study explores the anxieties surrounding motherhood. Anchored in the theoretical frameworks of biopolitics and feminist studies on motherhood, it explores historical and current state controls over female reproductive autonomy. The study discusses how patriarchal norms and societal pressures enforce strict reproductive timelines, stigmatizing deviations and maintaining gender inequalities. Online discourses often blame male irresponsibility for reproductive fears while overlooking systemic issues like inadequate family policies and capitalist labour dynamics. Moreover, the antithetical narrative dichotomy between childless women and mothers reflects a broader rejection of traditional motherhood constructs, with the latter criticized for capitulating to patriarchal dictates. By dissecting the ‘fertility fear’ discourse, this study illuminates the interplay between state policies, societal norms, and personal agency in reproductive decisions. It provides insights into the evolving dynamics of gender, motherhood, and female autonomy in post-reform China, emphasizing the need to address both individual and structural aspects of reproductive governance.

Exploring parenthood intentions and perceptions of infertility and assisted reproductive technology among 2SLGBTQIA + young adults in Ontario, Canada: a mixed methods study

BackgroundAs Generation Z two-spirit, lesbian, gay, bisexual, transgender/trans, queer, intersex, asexual and others who identify as part of sexual and gender diverse communities (2SLGBTQIA +) enter adulthood, contemplation of family creation may be challenged by biological and/or social infertility. Despite some advances in societal acceptance of gender and sexual minorities, family planning and reproductive healthcare remain heteronormative. To explore reproductive decision-making and how future families are conceptualized across genders, we evaluated perceptions of Ontario, Canada non-parenting, 2SLGBTQIA + emerging adults.MethodsAn online survey, designed as mixed-methods with sex-and-gender-based analysis (SGBA +), was used to recruit childless, post-secondary students, aged 18–30 years, in May–October 2022. Survey questions were analyzed by descriptive statistics across gender groups. Open-text responses were analyzed by thematic and content analysis.ResultsParenthood intentions, conceptualizations of future family and perceptions of ART were described by 286 2SLGBTQIA + individuals, who were primarily Caucasian, cis women (69.2%), identified as bisexual-pansexual (66.4%), and belonged to Generation Z (85%). Only 33.9% of the sample definitively wanted children, with 33.6% unsure, and 32.5% preferring to remain childless. Themes describing participants’ future family visions included: (i) committed partners are family, (ii) family includes children (subtheme: adoption/fostering as options for family creation), (iii) family values include love and acceptance, (iv) chosen families, and (v) families can be childfree. ART was acceptable in the event of future infertility, with two major themes used to describe perceived barriers to ART: (i) treatment is expensive; and (ii) I may face discrimination due to my gender identity/sexual orientation. Trans men were significantly more worried about healthcare access to have a biological child (86.7%; χ2(3):16.805 p < .001) than other genders.Conclusions2SLGBTQIA + respondents expanded the rigid, heteronormative nuclear family model to envision families comprised of partners, biological and adoptive/foster children, friends and chosen family. Participants across genders recognized systemic 2SLGBTQIA + discrimination, with transgender/trans respondents particularly concerned about barriers to reproductive healthcare. A better understanding of reproductive decision-making by 2SLGBTQIA + individuals can contribute to more equitable and inclusive ART healthcare.

The Effect of Offspring Gender Composition on Modern Contraceptive Uptake Among Married Women of Reproductive Age in Pakistan: A Facility-Based Cross-Sectional Study.

Introduction: Pakistan is confronted with the formidable challenge of high population growth, which is compounded by cultural norms that prioritize male offspring, leading to adverse implications for family planning efforts and demographic trends. Despite efforts to promote contraception, including a national family planning program, Pakistan continues to struggle with low and stagnant contraceptive prevalence rates among married women. The influence of gender composition on modern contraceptive uptake remains underexplored, necessitating research to elucidate its impact on reproductive behavior. Materials and methods: This study used the dataset of a facility-based cross-sectional survey conducted in six districts of the Sindh and Punjab provinces in Pakistan. A subset of 495 married women of reproductive age seeking health services from March to June 2019 was used for this study. Logistic regression analysis was employed to examine the association between the gender composition of children and modern contraceptive uptake, adjusting for covariates such as province, the age of the women, and the type of health facility. Results: The analysis revealed a significant association between the gender composition of children and modern contraceptive uptake among married women. As the number of daughters increased without sons, the likelihood of contraceptive uptake remained low (adjusted odds ratio [AOR]: 0.12; 95% CI: 0.04-0.34; p < 0.000), while having at least one son substantially increased the odds of contraceptive use (AOR: 19.91; 95% CI: 8.00-49.50; p < 0.000). Notably, the gender composition of having one daughter with two sons had the highest level of contraceptive uptake, potentially because of family composition preferences. Discussion: The findings highlight the pervasive influence of gender composition on reproductive decision-making in Pakistan, with a clear preference for sons driving modern contraceptive behavior. These results underscore the need for targeted interventions to address gender norms and biases while promoting equitable access to family planning services. Engaging men in family planning initiatives is crucial for challenging traditional gender norms and fostering informed decision-making regarding contraception. Conclusions: Gender preference influences modern contraceptive uptake among women in Pakistan, with the strong preference for sons driving reproductive behavior. Addressing gender norms and biases while promoting informed, self-determined choice is essential for enhancing modern contraceptive uptake and achieving sustainable population growth. Targeted interventions, including male engagement strategies, are needed to challenge societal gender norms and empower individuals to make autonomous decisions regarding family planning.

Exploring the Intersection of Mental and Reproductive Health Among Women Living with HIV in Spain: A Qualitative Secondary Data Analysis.

Background/Objectives: Globally, girls and women make up over half of those living with Human Immunodeficiency Virus (HIV), facing unique reproductive and mental health challenges. An HIV diagnosis impacts motherhood desires and increases trauma, stigma, and depression risks. Addressing these overlapping vulnerabilities with tailored, comprehensive healthcare is essential. This study aims to qualitatively explore the complex interplay between mental health and reproductive decision making among women living with HIV (WLWH). Methods: A secondary data analysis approach was employed, utilizing qualitative data from a wider study. Theoretical sampling was used to recruit a sample of WLWH attending the HIV clinic at a public hospital in Badalona (Barcelona, Spain). Interviews took place in a private and quiet space between May 2019 and January 2020. To perform secondary data analysis, Braun and Clarke's thematic analysis was used. Results: Twenty-six women living with HIV were interviewed, with an average age of 39.3 years. The participants had diverse nationalities and faced economic challenges. Following data analysis, four main themes were identified: Emotional Fragmentation and Reproductive Self-Perception after the HIV Diagnosis; Coping Strategies in Reproductive Decision Making; Impacting Emotional Resilience and Motherhood Decisions; and Emotions, Mental Health, and Desire for Motherhood. The themes revealed the profound emotional impact of HIV on their identity, mental health, and reproductive decision making, affecting motherhood aspirations. Conclusions: Women living with HIV face psychological challenges in reproductive decision making, including anxiety and stigma. The study highlights their resilience and emphasizes incorporating hope-based strategies into HIV care, advocating for integrated and mental health-focused approaches to improve support and outcomes.

The experience of "at-risk" status for familial frontotemporal dementia (fFTD) and its impact on reproductive decision-making: A qualitative study.

Familial frontotemporal dementia (fFTD) is an autosomal dominant heritable form of FTD, onsetting in mid-life, characterized by behavioral and personality changes. Children of an affected parent are at 50% risk of inheriting the relevant fFTD gene variant and developing FTD. Genetic testing means a growing group of people are aware of or considering learning their risk status. This knowledge, combined with witnessing parents' symptoms, has implications for reproduction. This study explores attitudes and approaches to reproductive decision-making among those at risk for fFTD. Thirteen qualitative interviews were conducted with at-risk individuals, including parents and non-parents, and analyzed using Thematic Analysis to explore experiences of at-risk relatives of people with symptomatic FTD, attitudes toward reproductive decision-making, and, among parents, influences of genetic risk status on parenting. The themes identified were: (1) Fear of repetition of own experience with symptomatic relatives; (2) Approaches to mitigating repetition; (3) Responses to genetic risk in reproductive decision-making; (4) Accounting for timing in reproductive decision-making; (5) Challenges of disclosing genetic risk to children; (6) Other mitigating factors in reproductive decision-making. Findings highlight the key role of previous experiences with symptomatic relatives in shaping attitudes toward genetic risk status and approaches to managing it in reproductive decision-making. Findings highlight a need for responsive genetic counseling focused on exploring options alongside providing information and signposting to practical legal and financial support. Future research should specifically compare experiences in fFTD with experiences in other heritable neurodegenerative disorders and explore reproductive decision-making for couples where one partner is at risk of fFTD.

Decoding fertility behaviour of married women in Zambia: A multipronged analysis of bio-demographic, socio-economic and intermediate factors.

Despite national efforts and a decrease in total fertility rate, Zambia's fertility remains high compared to global and regional averages. While previous research has examined the influence of bio-demographic and socio-economic factors, it has neglected the role of overlooked intermediate variables such as age at first marriage, contraception use, and abortion. This study investigated the influence of these variables, while controlling for bio-demographic and socio-economic factors, on women's fertility behaviour in Zambia. The study drew upon data from three cross-sectional Zambia Demographic Health Surveys (2007, 2013-14, 2018) to investigate fertility behaviour among 18,299 married women, measured by the number of children ever born (CEB). Descriptive and inferential statistical analyses, including Analysis of Variance and Negative Binomial regression, were conducted using Stata 14.2 to identify factors associated with women's fertility behaviour. The regression results are presented as adjusted incidence rate ratios with confidence intervals. Married Zambian women's fertility behaviours, as measured by CEB are concerning, and exhibit patterns influenced by intermediate factors like age at first marriage and abortion. Early marriage, specifically before the age of 18, is associated with higher likelihood of having more CEB than those who married at 18 years or above (AIRR = 1.10, 95% CI: 1.07-1.14 in 2007; AIRR = 1.10, 95% CI: 1.10-1.12 in 2013; and AIRR = 1.07, 95% CI: 1.05-1.10). Conversely, married women who reported having had an abortion were more likely to have fewer CEB. In 2018, women with a history of abortion had lower likelihood of higher CEB compared to those without (AIRR = 0.94, 95% CI: 0.91-0.97). Besides, demographic and socio-economic factors such as age, education level, geographic location, and decision-making autonomy were found to significantly impact women's fertility behaviour. This study shows that the two intermediate variables of age at first marriage and a history of prior abortion are more influential on women fertility behaviour than contraception among married women in Zambia. To effectively address stalled fertility and improve women's reproductive health, policies should address early marriage, enhance access to sexual reproductive healthcare, and empower women to enable them make informed reproductive decision-making.

The importance of color and body size for reproductive decision making by males and females of the giant river prawn, Macrobrachium rosenbergii (de Man, 1879) (Decapoda, Caridea, Palaemonidae).

The selection and expression of conspicuous colorations in animals is often related to anti-predation strategies and sociosexual communication. The giant river prawn, Macrobrachium rosenbergii (de Man, 1879) is a species with three male morphotypes that vary in claws' coloration and the size of the animals. It has been suggested that male reproductive quality might be associated to their coloration, but evidence is still conflicting. In addition, a possible communication function of orange patches, that occupies a large portion of egg-bearing females' cephalothorax, has never been investigated before. For that matter, in this study, we evaluated the importance of visual cues for reproductive decision making by males and females of the giant river prawn. Through two-choice discrimination experiments, we verified whether: 1) females would be equally attracted to the presence of males expressing different claw colorations and body sizes; 2) female reproductive status and body size would influence males' decision making. Under the tested experimental conditions, females predominantly chose larger over smaller males, while males showed no significant preference for any kind of female. It is possible that body size is one of the cues that females use to identify males' morphotype. The choice of larger males could provide greater protection for females against harassment by other males. Further studies should employ visual cues in combination with chemical ones for a better understanding of mate choice in this species.

Preconception carrier screening in couples seeking in vitro fertilization: exploring the patient perspective

Research questionWhat is the level of understanding, and what are the attitudes and considerations regarding preconception carrier screening (PCS) among patients seeking in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI)? DesignA mixed methods design was used. Nine interviews were conducted with couples or individual partners (N = 16) who had an intake for IVF/ICSI in the two years prior to this study. A questionnaire was completed by 115 participants. No actual PCS was offered. ResultsAll interviewed couples expressed a positive attitude towards PCS, and over half of the respondents would pursue or seriously consider pursuing PCS if possible. Some couples falsely believed that PCS could identify a cause for their fertility problems and increase their chances of conceiving. The desire to make an informed reproductive decision was the most important argument in favour of PCS. The primary argument against PCS was the apprehension of being confronted with reproductive dilemmas. The longer the delay in their IVF/ICSI treatment required to perform PCS, the more couples would be inclined to decline screening. Participants preferred receiving information about PCS from a medical specialist at an early stage in their IVF/ICSI treatment. ConclusionAlthough attitudes towards PCS were generally positive, some concerns were raised about treatment delays and potential reproductive dilemmas, and some couples had misconceptions about the purpose of screening within the context of their IVF/ICSI treatment. These findings highlight the importance of tailoring the information and counseling to the specific needs of IVF/ICSI patients.

Accelerating Progress in Women's Sexual and Reproductive Health and Rights Decision-Making: Trends in 32 Low- and Middle-Income Countries and Future Perspectives.

In 1994, the International Conference on Population and Development (ICPD) Programme of Action established the empowerment and autonomy of women as fundamental to achieving sustainable economic and social progress. Three decades later, significant strides have been made in enhancing sexual and reproductive health and rights (SRHR). However, deep-rooted gender inequality continues to impede substantial progress for many. We assess the advancements made under the Sustainable Development Goals, specifically through indicator 5.6.1, which measures women's SRHR decision-making. Using data from 76 Demographic and Health Surveys and 1 Multiple Indicator Cluster Survey in 32 low- and middle-income countries from 2006 to 2022, the study analyzed trends in women's SRHR decision-making and its subcomponents of autonomy on reproductive health care, contraceptive use, and sexual relations-among married or in-union women aged 15-49 years currently using contraception. The analysis also examined trends in decision-making disparities related to household wealth quintiles, women's education levels, and area of residence, using disaggregated population-weighted percentages. Analysis revealed a generally positive trend in women's SRHR decision-making, with gains observed in Eastern and Southern Africa and notable declines in West and Central Africa. Subindicator disparities showed variations in autonomy across health care, contraception, and the ability to refuse sex. An inequality analysis highlighted that while some countries saw a narrowing wealth gap in decision-making, others faced growing disparities. Educational and urban-rural divides also shifted, reflecting a complex landscape of progress and challenges in improving women's SRHR decision-making. The analysis underscores a patchwork of progress in women's SRHR decision-making while also exposing deep disparities. These data suggest a critical need for interventions tailored to cultural and socioeconomic contexts, particularly in countries and subnational areas lagging behind. Forward-thinking strategies must prioritize enhancing women's reproductive agency, ensuring interventions are informed by community-tailored priorities and global human rights standards.

Polygenic risk scores and embryonic screening: considerations for regulation

Polygenic risk scores (PRSs) have recently been used to inform reproductive decision-making in the context of embryonic screening. While this is yet to be widespread, it is contested and raises...

Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening.

The concept of severity in healthcare is multidimensional and subjective. It is a primary consideration in reproductive genetic carrier screening design where the focus is providing reproductive couples with information about the chance of severe genetic conditions in their offspring. When offering this screening, it is important to understand how condition severity is perceived and incorporated into reproductive decision-making. We analysed data from 41 semi-structured interviews with people who received a screening result indicating an increased chance for having children with a genetic condition. Thematic analysis revealed a desire for comprehensive information about the condition including clinical features, prognosis, impact on quality of life and treatment/management options. Participants integrated this information with their personal circumstances, beliefs/values and lived experience to form a perception of the severity of the condition. For rare and reduced-penetrance conditions where clinical information was limited or ambiguous, decision-making was more complex and greater anxiety was experienced. For conditions with a severity spectrum, reproductive decisions were based on the 'worst-case' clinical presentation. Where the impact of the condition was perceived as significant, the imperative to avoid that condition in future children appeared to be the greatest. Participants reported feeling that knowing their increased reproductive chance of the condition conferred a responsibility to avoid the condition, to prevent suffering and/or reduced quality of life for their children and future generations. These findings offer critical insight into how severity is perceived and the role it plays in reproductive decision-making and justifies a carefully considered approach to screening panel design.

Explaining the role of proximate and indirect determinants on fertility decline in Timor-Leste

ABSTRACT Timor-Leste’s rapid population growth since independence in 2002 has been driven by a high total fertility rate, declining mortality rates, and refugee repatriation. Understanding fertility dynamics is necessary for empowering women’s reproductive decision-making. This study investigates the ongoing fertility transition in Timor-Leste by applying Bongaarts’ Proximate Determinants of Fertility to Demographic and Health Survey data. Marriage had the greatest fertility effect on total fecundity rate. Postpartum insusceptibility contributed most to the change in total fertility rate between 2009-10 and 2016. A binary logistic regression model was developed to analyse the effect of selected Indirect Determinants on age at first cohabitation, a proxy measure for the Index of Marriage. This demonstrated that educational attainment, affluence, and access to media significantly affected age at first cohabitation. These findings could be integrated into aligning policy with the intricate local social, cultural, and political context in Timor-Leste in reproductive decision-making.

Should newborn genetic testing for autism be introduced?

This manuscript provides a review of the potential role of newborn genetic testing for autism, and whether the state has an inherent responsibility to facilitate and subsidise this. This is...

REPRODUCTIVE HEALTH IN TRANS AND GENDER DIVERSE PATIENTS: Effects of feminizing gender-affirming hormone therapy on testicular function and reproductive capacity: review of data from clinical and experimental studies.

Transgender, non-binary and gender-diverse patients utilizing feminizing gender-affirming hormone therapy (GAHT) may experience reduced fertility, which is currently addressed through fertility preservation and treatment cessation. Experimental research with animal models may identify mechanisms involved in testicular function impairment, their severity and duration, and may help to inform patients about reproductive health decisions. Feminizing GAHT may include combined estrogen, progesterone and/or antiandrogens (collectively referred to as E-GAHT) aiming to achieve individualized embodiment goals. This kind of treatment is highly desired, but it is expected to negatively impact the reproductive ability of transgender, non-binary and/or gender-diverse (TNG) individuals having testes, mainly by disrupting the biological pathways involved in spermatogenesis. There is little research on the impact of E-GAHT on the testis or on the potential recovery of spermatogenesis by stopping GAHT. Studies using animal models receiving GAHT are a novel promising method to help identify the reproductive pathways affected by GAHT and the degree of those effects. A literature search was performed to identify both clinical and experimental studies using rodent models applicable to the reproductive needs of E-GAHT users. We found large variability in clinical populations that has not been fully replicated in translational research. Furthermore, animal GAHT models have yet to be capitalized to examine fertility preservation. Some clinical studies indicated that sperm quality may be reduced in E-GAHT patients before initiating E-GAHT, which cannot be studied using GAHT-treated animals. As many TNG people of reproductive age may have the wish to create a future family, it is important to increase the knowledge that will inform and improve E-GAHT patients' fertility preservation outcomes and reproductive health.

Reproductive decision-making experiences of Australian adults with neurofibromatosis type 1 and schwannomatosis.

Individuals with neurofibromatosis type 1 and schwannomatosis (NF) often face difficult reproductive choices when family planning; however, their experiences and the barriers and enablers to reproductive decision-making are poorly understood. The purpose of this study was to explore the opinions and experiences of individuals with NF in Australia and inform the development of practice recommendations and resources. Focus groups with adults with NF were conducted using a semi-structured interview schedule developed by the research team. Partners were also invited. The focus groups were recorded, de-identified, transcribed, and analyzed using codebook thematic analysis. Three focus groups were conducted with 17 participants (12 = NF1, 4 = NF2-related schwannomatosis [NF2-SWN] and one partner). Three themes were identified: (1) Barriers and enablers; (2) Contemplating the options; and (3) Education and support needs. Barriers to reproductive decision-making included: difficulty accessing healthcare services to discuss reproductive planning; a lack of access to reliable information sources and support; and, in some cases, the financial cost of assistive reproductive technology. Conversely, positive healthcare experiences and support systems enabled reproductive choices. Participants reported many factors that contributed to their reproductive decisions, including: their personal experience of their condition; concern about their future health and that of an affected child; the impact of pregnancy on their health; and the opinion of healthcare providers, family, and friends. Many participants reported mental health difficulties related to their condition and additional stressors related to the reproductive journey. Participants' recommendations included increased access to healthcare services to discuss reproductive options, the development of comprehensive information resources, and improved psychological and peer support for individuals with NF considering family planning and, where relevant, their partners. In conclusion, people with NF and their partners identify a need for improved awareness of NF among healthcare professionals and increased access to appropriate services, information, and support to facilitate informed reproductive decision-making.

Parent-Child Privilege as Resistance

In the wake of Dobbs v. Jackson Women’s Health Organization, minors face increasing restrictions in accessing reproductive care. The majority of pregnant minors consult their parents before obtaining abortions. Although the parent-child relationship is the first to exist and is often where children turn for guidance, there is no recognized parent-child privilege in the majority of states. These healthcare conversations between parent and child now may hold criminal implications. This Article provides a novel contribution in exploring parent-child communications within the health and reproductive decision-making contexts, arguing privilege is essential to protect minors in accessing care post-Dobbs. In the process, this Article provides a broader theoretical contribution—introducing a new conceptual framework of “privilege as resistance” that envisions evidentiary parent-child privilege as a tool to oppose unjust systems and laws. Privileges are generally disfavored in evidentiary law as impeding the truth; however, this Article critiques the prioritization of the carceral system’s search for truth over the relationship between the parent and child. Parent-child privilege as resistance is informed by a history filled with the separation of families and denial of intimate spaces for marginalized individuals, in particular enslaved individuals and Indigenous people. Building on this context, the Article argues that despite using parents to legitimize judicial processes, the justice system fails to recognize them and shield their communications. Privilege as resistance can enable parents to be an integral part of anti-carceral—and far more successful—approaches to juvenile justice, such as restorative justice models. With this critical lens, the Article imagines a contemporary parent-child privilege that protects a child’s privacy, bodily autonomy, and direction over their lives.

Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.

Reproductive genetic carrier screening (RGCS) provides information about people's chance of having children with certain genetic conditions, to inform reproductive decision making. RGCS at population scale requires a robust and streamlined program that is purposively designed and formally implemented to ensure equity and consistency. There are many considerations in selecting conditions, genes and variants for inclusion in RGCS, with severity of the genetic condition a key criterion. However, the concept of severity is complex and often underspecified in available guidelines. Severity is often determined in relation to other contextual features and can be experienced differently by individuals who all have the same condition. While some genetic conditions are unambiguously considered severe, there are many factors that contribute to how severe a condition is perceived to be (and by whom), and perspectives will vary. In this paper, we analyse why severity is an important criterion when selecting conditions, genes or variants to be included in RGCS. We suggest that screening programs should be oriented more towards variants and genes associated with severe conditions. We discuss the importance of taking a practical approach to gene selection in a carrier screening program when presenting the offer at population scale.

Nationwide, Couple-Based Genetic Carrier Screening

BackgroundGenomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.MethodsWe investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie’s Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy. The results obtained from testing at least 1281 genes were provided to the reproductive couples. We aimed to ascertain the psychosocial effects on participants, the acceptability of screening to all participants, and the reproductive choices of persons identified as having an increased chance of having a child with a condition for which we screened.ResultsAmong 10,038 reproductive couples enrolled in the study, 9107 (90.7%) completed screening, and 175 (1.9%) were newly identified as having an increased chance of having a child with a genetic condition for which we screened. These conditions involved pathogenic variants in 90 different genes; 74.3% of the conditions were autosomal recessive. Three months after receiving the results, 76.6% of the couples with a newly identified increased chance had used or planned to use reproductive interventions to avoid having an affected child. Those newly identified as having an increased chance had greater anxiety than those with a low chance. The median level of decisional regret was low in all result groups, and 98.9% of participants perceived screening to be acceptable.ConclusionsCouple-based reproductive genetic carrier screening was largely acceptable to participants and was used to inform reproductive decision making. The delivery of screening to a diverse and geographically dispersed population was feasible. (Funded by the Medical Research Future Fund of the Australian government; ClinicalTrials.gov number, NCT04157595.)

Expanded carrier screening for 224 monogenic disease genes in 1,499 Chinese couples: asingle-center study.

Expanded carrier screening (ECS) is a preventive genetic test that enables couples to know their risk of having a child affected by certain monogenetic diseases. This study aimed to evaluate the carrier frequency for rare monogenic diseases in the general Chinese population and the impacts of ECS on their reproductive decisions and pregnancy outcomes. This single-center study was conducted between September 2022 and April 2023. An ECS panel containing 224 recessive genes was offered to 1,499 Chinese couples from the general population who were at early gestational ages or planned to conceive. Overall, 55.0 % of the individuals carried for at least one recessive condition. There were 16 autosomal recessive (AR) genes with a carrier frequency of≥1/100 and 22 AR genes with a carrier frequency of <1/100 to ≥1/200. The most common AR and X-linked diseases were GJB2-related non-syndromic hearing loss, and hemolytic anemia, respectively. Fifty-five couples (3.67 %; 1 in 27.3) were at increased risk of having an affected child with 19 pregnant at the time of testing. Of these, 10 opted for amniocentesis, and four affected pregnancies were identified, with three of them being terminated. This study not only provides valuable information about the recessive genetic landscape, but also establishes a solid foundation for couple-based ECS in a real clinical setting.

Implikasi Maqasid Syariah terhadap Pilihan Reproduksi: Studi tentang Childfree di Era Modern

This research discusses childfree choices in the context of maqasid sharia, highlighting the interaction between religious values ​​and social changes that influence reproductive decisions in the modern era. By referring to the principles of maqasid sharia which focus on protecting the soul, mind and offspring, this research analyzes the challenges and opportunities faced by individuals or couples who choose not to have children. Results show that although childfree couples face social stigma and pressure from traditional norms, they also have opportunities to develop themselves, build strong social relationships, and contribute positively to society. In addition, an inclusive approach and open dialogue are essential to understand and appreciate various reproductive options within the framework of Islamic values. This research emphasizes the need for comprehensive education and community support to create a harmonious environment, where all individuals can carry out their social and spiritual responsibilities well.