Reproductive Decisions Research Articles

Clinical utility of expanded carrier screening in the preconception and prenatal population: A Chinese cohort study

ObjectivesTo evaluate the clinical utility of expanded carrier screening (ECS) in Chinese preconception and prenatal populations, focusing on carrier frequency and the impact on at-risk couples (ARCs). MethodsData from 6,298 Chinese individuals from 4,420 families who underwent a 149-gene ECS panel at a single center were analyzed. The prevalence of positive carriers and ARCs was determined, with follow-up on reproductive decisions and pregnancy outcomes for ARCs. ResultsOf the individuals screened, 2,673 (42.4 %) were carriers of at least one pathogenic or likely pathogenic variant, and 98 (2.22 %) ARCs were identified. GJB2-related deafness and Duchenne muscular dystrophy were the most common autosomal recessive (AR) and X-linked disorders. Screening the top 11 (gene carrier rate [GCR] ≥ 1/100), 22 (GCR ≥ 1/200), and 41 (GCR ≥ 1/331) AR genes could identify 53.5 %, 67.9 %, and 81.3 % of variants, respectively. The corresponding ratios for identified ARCs were 90.4 %, 94.0 %, and 100 %. Follow-up data from 80 ARCs indicated that 75.0 % (60/80) took significant action based on the ECS results. Additionally, four families (3.5 %, 4/115) were identified at risk for a second disease unrelated to their initial family monogenic history. ConclusionsThis study, representing the largest cohort of a moderate-sized ECS panel test in the Chinese population, demonstrates the clinical utility of ECS in both healthy individuals and those with a family history of monogenic disorders. The data obtained provide valuable insights for developing a Chinese-specific ECS panel. Tailored approaches are critical for wider adoption and successful routine application of ECS.

Having two children might be best for women's mental health: Evidence from UK Biobank

BackgroundLimited research has examined the association between the number of live births and bipolar disorder and major depression (BDMD). This study aims to investigate the relationship between the number of live births and BDMD among women in the UK, providing a theoretical basis for reproductive decision-making. MethodsThis cross-sectional study utilized data from >55,000 women in the UK Biobank. Inverse probability treatment weighting (IPTW) logistic regression models were employed to reduce bias and confounding. Multivariate logistic regression was applied to examine the relationship between live births and BDMD, while restricted cubic spline regression was utilized to analyze the nonlinear association between the number of live births and BDMD. Subgroup analyses were conducted, stratifying by age, BMI, spontaneous abortion, induced abortion, and spontaneous abortion. ResultsThe IPTW-multivariate logistic regression analysis indicated that live births serve as an independent protective factor against BDMD. In IPTW-multivariate Model 4, the odds ratio (OR) for the live births group was 0.71 (95 % CI 0.69–0.73, P < 0.001). A significant nonlinear relationship was identified between the number of live births and the risk of BDMD. Additionally, it was found that women with two live births exhibited the lowest risk of BDMD. ConclusionOur study demonstrated that live births are an independent protective factor against BDMD. This research holds particular significance in the context of globally declining fertility rates and the increasing prevalence of mental disorders. It provides guidance for women on fertility decisions amid declining global fertility rates and increasing mental health issues.

Genetics, emotion and care: Navigating future reproductive decisions in families of children with rare genetic conditions.

Little is known regarding the future reproductive decision-making of parents of children with rare genetic conditions. Our research draws on data from an online survey and qualitative photo-elicitation interviews with families living with Noonan Syndrome. We demonstrate how genetic knowledge and prenatal genetic testing become embedded in reproductive practices. Yet the idea of using selective genetic technologies to influence reproductive outcomes remains highly emotive. Our analysis reveals that for these parents, the rationalities of reproduction, although technologised and biomedicalised, remain centred on caring for their disabled child. Genetic subjectivities become entangled with responsibilities of care-giving and emotion tied to the realities of living with disability. We argue that for these parents, reproductive decisions are relational and affective, situated within families and communities and shaped by access to emotional, financial, physical and temporal resources. Our findings provide new insights into the ontologies of selective genetic technologies and reproductive governance in families living with disability.

Whose Egg, Whose Sperm, Whose Household Registration? Reproductive Decisionmaking Among LGBT Parents in China

This article examines how LGBT individuals and couples in China make reproductive decisions in a sociopolitical context characterized by homophobia and an absence of LGBT familial rights and legal recognition. The existing literature on LGBTQ+ childbearing and family formation, based primarily in Euro-American countries, tends to focus on the central role of same-sex marriage legalization and features marriage as the core intimate bond that bestows parental and other familial rights. This article argues that China’s household registration (hukou) system is an equally, if not more, salient regulatory system that determines daily life opportunities, access to state-subsidized schooling and health care, life-long social welfare, and placement in a hierarchy of urban versus rural citizenship. LGBT intending parents in China make reproductive decisions with a child’s hukou in mind, treating genetic contributions, gestational labor, and legal parental status as flexible resources to achieve desired hukou outcomes. The hukou system encourages reproductive strategies that make and unmake LGBT kinship, securing family bonds that otherwise lack legal and social recognition while potentially risking parental precarity. The article suggests new directions for LGBT rights advocacy by focusing on the governing systems and statuses that determine access to key citizenship resources and family rights.

Reproductive Coercion: Prevalence and Risk Factors Related to Relationship Health Knowledge and Skills.

Reproductive coercion is any behavior that limits a person's reproductive decision-making and can lead to negative health and safety outcomes. Previous research has explored reproductive coercion prevalence rates in clinical samples, as well as demographic risk factors for experiencing reproductive coercion. The purpose of this study is to assess the prevalence rates of two specific forms of reproductive coercion, pregnancy coercion and condom manipulation, in an ethnically and racially diverse sample of young females. We also explore the association between relationship health knowledge and skills with reproductive coercion. We used a sample of 143 females with previous sexual activity. Participants were diverse in terms of race, ethnicity, sexual orientation, and family immigration status. Descriptive statistics and logistic regression analyses were used to determine prevalence rates of pregnancy coercion and condom manipulation and the likelihood of experiencing reproductive coercion based on participants' knowledge and skills related to relationship health. Results revealed that 16.1% of the sample had experienced reproductive coercion, with all participants in this group reporting lifetime experiences of pregnancy coercion. Lifetime experiences of condom manipulation were reported by 6.3% of the sample. The most common form of reproductive coercion experienced by participants was being told by a partner not to use any birth control. Furthermore, results indicate that higher relationship health knowledge may be a protective factor for pregnancy coercion and condom manipulation. Likewise, higher decision-making skills in relationships and higher confidence in relationships may also protect against condom manipulation. Results from this study suggest implications for sexual and relationship health programming that expands education around consent, choice, decision-making, and communication around the use of contraception.

9234 A Case of Gigantism Due to An AIP Gene Mutation: Implications for Genetic Counseling and Preimplantation Genetic Diagnosis

Abstract Disclosure: M. Serebro: None. M. Yacobi Bach: None. N. Even Zohar: None. A. Reches: None. Y. Greenman: None. From the age of 17 the patient experienced accelerated growth, facial changes, and enlargement of hands and feet. Despite having a sister already diagnosed with acromegaly, the patient did not undergo endocrine evaluation until the age of 25, when he was diagnosed with gigantism. Magnetic resonance imaging (MRI) revealed the presence of a macroadenoma with suprasellar extension reaching the optic chiasm. The patient underwent transsphenoidal surgery and excision of a sparsely granulated somatotroph adenoma that was Pit1 positive and exhibited weak immunostaining for growth hormone (GH). Insulin-like growth factor 1 (IGF1) levels normalized after surgery, and a fasting GH level was 0.6 ng/ml. Given the family history and the early onset of the disease, genetic counseling was recommended. Genetic testing revealed a heterozygote likely pathogenic variant in the AIP gene (c.713G&amp;gt;A). This finding prompted the recommendation for genetic testing of all first-degree relatives. The patient and his wife, who desired to have children, were referred to obstetrics and gynecology for pregestational diagnosis. Family segregation testing indicated that the patient's mother also carried the same AIP variant. Preimplantation genetic diagnosis (PGD) was conducted, revealing that 11 out of 20 embryos were carriers of the AIP variant. The non-carrier embryos were selected for implantation, and pregnancy was achieved. Efforts to inform first-degree relatives about the importance of genetic testing were undertaken, and one sister was tested and found to be healthy. Other siblings have not yet been tested. The patient's mother, identified as an AIP variant carrier, underwent endocrine laboratory tests that showed GH, IGF1, and prolactin levels within the normal range. Brain MRI did not reveal a pituitary lesion.This case highlights the significance of genetic counseling and testing in patients with familial endocrine disorders, the potential implications of a molecular diagnosis of a pathogenic AIP variant, and the challenges faced in reproductive decision-making for affected individuals and their families. Presentation: 6/3/2024

Clinical significance of Spinal Muscular Atrophy carrier detection in Guangdong Province, China: Insights from quantitative polymerase chain reaction and multiplex ligation-dependent probe amplification analysis

ObjectiveThis study aimed to identify carriers of Spinal Muscular Atrophy (SMA) among 10,630 pregnant women in Guangdong Province and provide prenatal diagnoses for high-risk fetuses from carrier couples. The goal was to prevent the birth of children affected by SMA. We evaluated the effectiveness of quantitative PCR (qPCR) and multiplex ligation-dependent probe amplification (MLPA) in detecting deletions in the SMN1 gene, with MLPA as the reference standard. MethodsFluorescent qPCR was used for initial SMA carrier screening, followed by confirmatory testing with MLPA for all detected carriers. ResultsOf the 10,630 women screened, 219 were identified as carriers (2.06 % detection rate). This included 17 cases of heterozygous deletion of exon 7 (E7), 145 cases with deletions of both E7 and exon 8 (E8), and 57 cases of E8 deletion alone. The carrier rate for E7 heterozygous deletion was established at 1.5 %. Prenatal diagnosis for seven carrier couples revealed five fetuses as carriers and one affected by SMA. The diagnostic concordance between qPCR and MLPA was 100 %. ConclusionThe combined use of qPCR and MLPA is vital in identifying SMA carriers, allowing for early diagnosis and informed reproductive decisions. The high sensitivity and specificity of qPCR, matching MLPA, demonstrate its value in clinical settings for SMA screening and prenatal diagnosis. Our findings emphasize the critical importance of selecting precise diagnostic methods to enhance clinical outcomes in genetic screening programs.

Development and Validation of the Climate Change-Related Reproductive Concerns Scale (CCRCS)

IntroductionAs global concerns about climate change intensify, emerging research reveals a link between climate change anxiety and individuals' decisions regarding parenthood. More people are choosing not to have children due to worries about their carbon footprint or the future implications of climate change on their offspring. This trend emphasizes the critical necessity for a nuanced comprehension of how environmental concerns intertwine with reproductive intentions. To address this imperative, our study develops the Climate Change-Related Reproductive Concerns Scale (CCRCS) and evaluates its psychometric properties. MethodsCCRCS was developed and validated in a sample of 206 Italian adults aged 19 to 51. Ten items were created to evaluate climate change-related reproductive attitudes: 5 anti-reproductive items and 5 pro-reproductive, with their responses reversed for consistency in interpretation. ResultsExploratory factor analysis revealed a single-factor structure, explaining 63.82% of the variance, with the scale demonstrating good internal consistency (α = 0.85). The factor structure was replicated, and the scale's validity was examined through correlations with measures of eco-paralysis and climate change anxiety, with significant correlations supporting construct validity. Furthermore, the relationship between climate change-related reproductive concerns and adaptation responses was explored, assessing the impact of framing on CCRCS scores. Conclusionthe CCRCS provides a reliable and valid measure of these concerns, highlighting the psychological impact of climate change anxiety on reproductive decision-making and emphasizing the need for nuanced understanding in this area.

Shortcomings of the Bharatiya Nyaya Sanhita, 2023: An Analytical Perspective

The Bharatiya Nyaya Sanhita, 2023 was enacted on December 25, 2023, to supplant the Indian Penal Code of 1860, marking a significant reform in India's criminal justice system. This legislation, along with the Bharatiya Nagarik Suraksha Sanhita as well as Bharatiya Sakshya Adhiniyam, took impact on 1st July 2024. The changes signify a departure from colonial legal frameworks, aiming for a system aligned with contemporary rights and inclusivity. While the Chief Justice of India and various legal experts have praised the BNS as a transformative step, it still exhibits notable shortcomings. For instance, it fails to address necrophilia, leaving serious offences unregulated. Moreover, Section 69's treatment of "deceitful means" in sexual relations raises issues regarding consent, particularly in contexts involving job offers or promotions. Section 152, which deals with threats to national sovereignty, could lead to overly broad interpretations that impede free expression. Additionally, Sections 84 and 88 reveal gender biases and outdated perspectives on marital rights and women's reproductive decisions. These challenges highlight the urgent need for further review and reform to ensure BNS fulfils its goal of creating a just and equitable legal system.

Women’s support-seeking for reproductive decision-making in Australia: rationales and socio-demographic contexts

ABSTRACT While a positive relationship between social support and women’s reproductive decision-making outcomes exists, little is known about the reasons why women engage supporters to assist them when making reproductive decisions. This study explores Australian women’s reasons for engaging supporters for reproductive decision-making and whether women’s socio-demographic characteristics are suggestive of any such reasons. A modified content analysis approach, combining directed and summative analysis methods, was applied to data from two qualitative Australian studies exploring women’s support-seeking for reproductive decision-making. Findings suggest that the most important rationales for engaging supporters were ‘understanding or empathy’, ‘informed or educated’, ‘on the same page’, ‘little interference’, ‘close’ and ‘stake in the decision’. Some socio-demographic characteristics, particularly regional area and partner status, helped to explain some reasons, while other reasons were better explained by the nature of the decision being made. Further research is required to enhance our understanding of reproductive decision-making processes and enable women to access support that facilitates decisions appropriate to their bodies and life circumstances.

Delays in seeking abortion and its determinants among reproductive-age women based on the Ethiopian Demographic and health survey

IntroductionDelaying in seeking abortion services causes adverse public health outcomes, which increases maternal mortality rates due to complications from abortion. However, evidence shows that there are limited factors associated with delayed abortion. Therefore, the study aims to determine the magnitude and identify factors associated with delayed seeking abortion among reproductive-aged women in Ethiopia. MethodsSecondary cross-sectional data analysis was conducted on the Ethiopian Demographical and Health Survey dataset. A total weighted sample of 2198 reproductive-aged women was considered in this study. All data processing and statistical analyses were performed using R-software version 4.2.3. Multilevel binary logistic regression analysis was used to identify a significant predictor for delays in seeking abortion. An adjusted odds ratio with a 95 % confidence interval was used to measure a statistical association. ResultThe prevalence of delays in seeking abortion among women in Ethiopia was 32 %. Educational status (AOR = 0.63; 95 % CI: 0.37–0.78), marital status (AOR = 2.12; 95 % CI: 1.38–3.74), wealth index (AOR = 0.54; 95 % CI: 0.41–0.75), frequency of listening a radio (AOR = 0.61; 95 % CI: 0.45–0.75), live births (AOR = 0.43; 95 % CI: 0.25–0.72), pregnancy wanted status (AOR = 0.59; 95 % CI: 0.4–0.79), contraceptive use (AOR = 0.46; 95 % CI: 0.34–0.69), and place of residence (AOR = 2.31; 95 % CI: 1.67–3.19) were statistically significantly variables associated with delays in seeking abortion. ConclusionsDelayed seeking abortion remains high in Ethiopia. The study is vital for policymakers, healthcare providers, and advocates to improve training on the importance of early abortion care, develop targeted interventions for better accessibility to abortion services, expand health education programs to raise awareness about reproductive rights and empower women with information for informed reproductive health decisions. Health education programs, specifically targeting uneducated women, poorer women, rural resident women, and women who do not use contraceptives, would decrease delays in accessing abortion services.

Abstract A166: Towards Health Justice: Implementing Structural Competency in Women's Healthcare Education Towards Health Justice

Abstract Introduction: Significant health disparities persist in women's health, particularly among marginalized groups like racial/ethnic minorities, LGBTQ+ individuals, and those with disabilities. Addressing these inequities requires training healthcare providers in structural competency to recognizing how social, economic, political, and cultural structures influence health outcomes beyond just individual factors. Objectives: The purpose of this study is to conduct a comprehensive evaluation of the literature on structural competence in connection to health inequalities in women's health. The objectives include: (1) Reviewing the role of structural competence in addressing health disparities among in reproductive health ; (2) Analysing instructional methodologies related to structural competencies; and (3) Developing a strategic framework to address racial health disparities in women's health through structural competence. Methodology: A literature review was conducted using the Scopus, Google Scholar, and Web of Science databases. After applying specific inclusion and exclusion criteria, 463 publications were retained from 905 articles published between 2010 and 2023. Findings: Major health disparities experienced by women include lack of access to quality healthcare services, discrimination from providers, higher rates of chronic illnesses, mental health issues, and lack of autonomy in reproductive health decisions and influenced by cultural norms and expectations. Racial/ethnic minority women face additional disparities due to language/cultural barriers, provider biases, impact of social determinants, and discrimination.Structural competency approaches highlighted include using community health workers (CHWs), analyzing electronic health record (EHR) data to identify disparities, advocating for policy changes targeting social determinants, and integrating structural competency training in medical curricula.While no specific successful policy examples are provided, recommendations include expanding healthcare coverage, supporting community clinics, and addressing socioeconomic inequities through systemic interventions. Conclusion: Integrating structural competency into medical education holds transformative potential for alleviating persistent health disparities in women's health by equipping providers to recognize and confront the underlying structural factors perpetuating these inequities. Citation Format: Daina Charnelle Fougang, Dianne Wepa A/P Wepa, Charles Charnelle Mpofu. Towards Health Justice: Implementing Structural Competency in Women's Healthcare Education Towards Health Justice [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A166.

Pregnancy Planning and Genetic Testing: Exploring Advantages, and Challenges.

Pregnancy planning and genetic testing (PPGT) has emerged as a tool in reproductive healthcare, offering parents-to-be insight in their risks of having a child with a genetic disorder. This paper reviews the advantages, drawbacks and challenges associated with PPGT, providing some practical guidance for health care professionals. Advantages include identification of genetic risks, a possibility to informed reproductive decision-making, and the potential to reduce the parents-to-be risk for an affected child. Challenges and drawbacks include provision of service, ethical considerations, genetic counselling complexities, and the need to increase public and professional awareness by comprehensive education and accessibility. Practical guidance involves considerations for selecting appropriate candidates, counselling strategies, and how to integrate PPGT into existing healthcare frameworks. By addressing these factors, PPGT can offer an increased reproductive informed choice for the individual and the couple reducing the burden of disease in the family.

Adaptation and psychometric assessment of a sexual and reproductive empowerment scale in Arabic among refugee and non-refugee adolescent girls.

Sexual and reproductive empowerment (SRE) is an important determinant of women's and girls' health yet measuring it is complex due to cultural and domain-specific variations. This study describes the process of adapting an SRE scale consisting of four domains (self-efficacy; future orientation; social support; and safety) and testing its psychometric properties among Arabic speaking adolescent girls in Lebanon. An SRE scale developed in a Western context was adapted in four steps: (1) reviewing the scale and selecting culturally appropriate domains for translation to standard Arabic; (2) conducting cognitive interviews with 30 11-17-year-old adolescent girls in Lebanon; (3) administering the scale to 339 refugee adolescent girls who participated in an early marriage intervention; and (4) conducting confirmatory factor analysis (CFA) on the data to assess the scale's psychometric properties. The original model for the 13-item, four-domain adapted scale demonstrated poor fit in CFA. After iteratively removing two items, scale properties were improved, albeit were not optimal. The validity and reliability results for the self-efficacy domain were acceptable. Cognitive interview data revealed that Arab adolescent girls understood self-efficacy in relational terms, recognizing that autonomous decision-making is not necessarily favored but is influenced by parents and family. This study presents an effort to customize an SRE scale for use in studies on the health of adolescent girls in an Arab cultural context. Findings from cognitive interviews highlight the importance of taking into consideration relationality in adolescent sexual and reproductive decision-making. The self-efficacy domain in the adapted scale demonstrates acceptable psychometric properties and is recommended for use in health studies to capture SRE.

Multifaceted paternal exposures before conception and their epigenetic impact on offspring.

As scientific research progresses, there is an increasing understanding of the importance of paternal epigenetics in influencing the health and developmental path of offspring. Prior to conception, the environmental exposures and lifestyle choices of fathers can significantly influence the epigenetic state of sperm, including DNA methylation and histone changes, among other factors. These alterations in epigenetic patterns have the potential for transgenerational transmission potential and may exert profound effects on the biological characteristics of descendants. Paternal epigenetic changes not only affect the regulation of gene expression patterns in offspring but also increase the risk to certain diseases. It is crucial to comprehend the conditions that fathers are exposed to before conception and the potential outcomes of these conditions. This understanding is essential for assessing personal reproductive decisions and anticipating health risks for future generations. This review article systematically summarizes and analyzes current research findings regarding how paternal pre-pregnancy exposures influence offspring as well as elucidates underlying mechanisms, aiming to provide a comprehensive perspective for an enhanced understanding of the impact that paternal factors have on offspring health.

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.

Factors influencing modern contraceptive usage among women aged 15-49 years: a cross-sectional study

Introduction: This study aimed to examine the factors that influence modern contraceptive use among married women of reproductive age in Kirkuk City, Iraq. Methods: A cross-sectional study was conducted to gather data from a convenience sample of 500 married women of reproductive age attending family planning units at 10 healthcare facilities, Azadi, Kirkuk Teaching Hospital, and private gynecological and obstetric clinics. Data were collected using a structured questionnaire from October 1st, 2023, to February 1st, 2024. The statistical analysis involved descriptive and inferential techniques. Results: The prevalence of contraceptive use among participants was 74.6%, with about (21%) reporting condom use and (16.0%) withdrawal usage. However, intrauterine devices were reported in (12.6%). Side effects were significantly (p&lt;0.001) associated with contraceptive method choices, with 52% of the users experiencing adverse effects. External pressures to have additional children or become pregnant significantly (p=0.037) influenced contraceptive method choices. There were fewer modern contraceptive methods due to unsafety (30.9%), discomfort (23.6%), and side effects, such as headache (18%), weight gain (16%), and irregular bleeding (14%). Conclusions: Modern contraceptive use is affected by healthcare, safety, side effects, reproductive health, and personal choices. Providing complete knowledge and access to modern contraceptives helps couples make informed reproductive health decisions, empowers women to regulate their fertility, supports their personal and reproductive objectives, and promotes their health and well-being. Keywords: birth control, childbearing age, Iraq, modern contraceptive, side effects

Genetics and precision genomics approaches to pulmonary hypertension.

Considerable progress has been made in the genomics of pulmonary arterial hypertension (PAH) since the 6th World Symposium on Pulmonary Hypertension, with the identification of rare variants in several novel genes, as well as common variants that confer a modest increase in PAH risk. Gene and variant curation by an expert panel now provides a robust framework for knowing which genes to test and how to interpret variants in clinical practice. We recommend that genetic testing be offered to specific subgroups of symptomatic patients with PAH, and to children with certain types of group 3 pulmonary hypertension (PH). Testing of asymptomatic family members and the use of genetics in reproductive decision-making require the involvement of genetics experts. Large cohorts of PAH patients with biospecimens now exist and extension to non-group 1 PH has begun. However, these cohorts are largely of European origin; greater diversity will be essential to characterise the full extent of genomic variation contributing to PH risk and treatment responses. Other types of omics data are also being incorporated. Furthermore, to advance gene- and pathway-specific care and targeted therapies, gene-specific registries will be essential to support patients and their families and to lay the foundation for genetically informed clinical trials. This will require international outreach and collaboration between patients/families, clinicians and researchers. Ultimately, harmonisation of patient-derived biospecimens, clinical and omic information, and analytic approaches will advance the field.

Assessing the health impacts of parenthood on people with cystic fibrosis: the HOPeCF prospective cohort protocol

IntroductionPeople with cystic fibrosis (CF) are living longer and healthier lives with a growing number considering and pursuing parenthood. The decision of whether to become a parent is complex for...

Preconception carrier screening and preimplantation genetic testing in the infertility management.

Genetic testing serves as a valuable element of reproductive care, applicable at various stages of the reproductive journey: (i) before pregnancy, when a couple's genetic reproductive risk can be evaluated; (ii) before embryo implantation, as part of in vitro fertilization (IVF) treatment, to ascertain several inherited or de novo genetic/chromosomal diseases ofthe embryo before transfer; (iii) during the prenatal period, to assess the genetic costitution of the fetus. Preconception carrier screening (CS) is a genetic test typically performed on couples planning a pregnancy. The primary purpose of CS is to identify couples at-risk of conceiving a child affected by a severe genetic disorder with autosomal recessive or X-linked inheritance. Detection of high reproductive risk through CS allows prospective parents to be informed of their predisposition and improve reproductive decision-making. These include undergoing IVF with preimplantation genetic testing (PGT) or donor gametes, prenatal diagnosis, adoption, remaining childless, taking no actions. Both the presence of the affected gene (PGT-M) and chromosomal status (PGT-A) of the embryo can be comprehensively assessed through modern approaches. We provide a review of CS and PGT applications to equip healthcare providers with up-to-date information regarding their opportunities and complexities. The use of CS and PGT is currently considered the most effective intervention for avoiding both an affected pregnancy whilst using autologous gametes in couples with known increased risk, and chromosomal abnormalities. As our understanding in the genetic component in pathological conditions increases, the number of tested disorders will expand, offering a more thorough assessment of one's genetic inheritance. Nevertheless, implementation and development in this field must be accompanied by scientific and ethical considerations to ensure this approach serves the best long-term interests of individuals and society, promoting justice and autonomy and preserving parenthood and the healthcare system. The combination of CS and PGT aligns with principles of personalized medicine by offering reproductive care tailored to the individual's genetic makeup.