Semin Perinatol
· 2025 Apr · PMID 40404237
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Prenatal genomic sequencing is now routine for fetal structural anomalies. Prenatal genomic sequencing results inform medical decision-making and guide pre and postnatal management by identifying associated clinical feat...Prenatal genomic sequencing is now routine for fetal structural anomalies. Prenatal genomic sequencing results inform medical decision-making and guide pre and postnatal management by identifying associated clinical features, allowing planning, coordination, and timely treatment and avoiding unnecessary additional diagnostic tests. However, clinical details are limited in the prenatal setting making diagnostic certainty more difficult. This leads to more frequent variants of uncertain significance (VUS) and accompanying questions of if and when to report VUS. We review current practices and recommendations on reporting VUS and include perspectives of parents. However, there are no clear recommendations for reporting uncertain prenatal results. With greater access to prenatal phenotypes from retrospective and prospective prenatal cases and postnatal cases with the same recurrent variant, there should be greater certainty of results and lower frequency of VUS over time.
Semin Perinatol
· 2025 Apr · PMID 40404236
·
Full text
OBJECTIVE: Whether to participate in clinical research is a special type of decision for parents with infants in the neonatal intensive care unit (NICU). Parents often report negative experiences being approached for NIC...OBJECTIVE: Whether to participate in clinical research is a special type of decision for parents with infants in the neonatal intensive care unit (NICU). Parents often report negative experiences being approached for NICU research and researchers struggle to enroll a representative sample. We consider how enrollment decision-making might be better supported by integrating learnings from clinical decision-making. FINDING: Approaches to supporting decision-making about clinical research, though distinct from those for clinical decision-making, share many similarities. We consider ways researchers may incorporate advances in knowledge about clinical decision-making to: (a) improve documents used for regulatory purposes (e.g., consent forms), and (b) better support relationship building between researchers and parents considering research enrollment. CONCLUSION: Researchers may benefit from considering approaches to enrollment decision-making that draw on clinical decision-making methods. Future work should assess the impact of such approaches on parental experiences of recruitment; enrollment and retention rates; and representative inclusion of NICU populations.
Prognosis is one of three traditional roles of clinicians, along with diagnosis and therapy. Prognostication-predicting and communicating about what to expect-plays a major, if overlooked, role in the day-to-day practice...Prognosis is one of three traditional roles of clinicians, along with diagnosis and therapy. Prognostication-predicting and communicating about what to expect-plays a major, if overlooked, role in the day-to-day practice of both obstetricians and neonatologists. This article describes several challenges in formulating an evidence-based prognosis that practicing clinicians may find helpful to consider in their practice.
Perinatologists and the families they support face decisions that are challenging in their complexity and uncertainty. Decision science studies general properties of such decisions in simplified settings far removed from...Perinatologists and the families they support face decisions that are challenging in their complexity and uncertainty. Decision science studies general properties of such decisions in simplified settings far removed from a Neonatal Intensive Care Unit. Perinatal decision making might be informed by decision science results. It might also challenge them. Each article in this provocative collection raises questions that can only be answered by collaboration between the disciplines. These questions consider how complex, uncertain decisions can be analyzed; how different decisions makers intuitively respond to them; and what interventions could support them, with better analysis, communication, or options. I hope to have framed the questions in ways that facilitate the needed collaborations.
Semin Perinatol
· 2025 Apr · PMID 40404232
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People with chronic illness who are (or could become) pregnant and their clinicians may face difficult decisions about the use of medications that can affect fetal health and development. In these situations, people must...People with chronic illness who are (or could become) pregnant and their clinicians may face difficult decisions about the use of medications that can affect fetal health and development. In these situations, people must make the choice whether to use a drug with limited information about teratogenicity to treat their illness, putting an existing or potential pregnancy at risk. This manuscript serves as a call to action for all clinicians whose patients face such treatment choices regarding teratogenic medications or medications with unknown fetal safety. It offers an approach to guiding patient-provider conversations on medication management for individuals who are or might become pregnant, grounded in a review of the existing literature on medication decision making for drugs with known or potential teratogenic properties and informed by the current tools available for offering decision support. As a case study for highlighting current challenges and potential solutions around safe prescribing, we focus on two systemic autoimmune and rheumatic diseases, systemic lupus erythematosus and rheumatoid arthritis, which disproportionately affect females compared to males (with incidence ratios of 9:1 and 3:1, respectively). We address how recent reproductive policy changes that restrict abortion access may affect both a provider and a patient's decision calculus. Finally, we highlight several gaps that could be addressed by future research and the implementation of new data collection practices by federal bodies, while offering an approach to optimize patient-provider communication under conditions of ongoing uncertainty around the safety of drugs for those who may become pregnant while using them.
Uncertainty is ubiquitous in neonatal medicine often reflecting incomplete knowledge of diagnoses, prognosis and optimal treatments. It profoundly influences decision-making and the relationships between parents and clin...Uncertainty is ubiquitous in neonatal medicine often reflecting incomplete knowledge of diagnoses, prognosis and optimal treatments. It profoundly influences decision-making and the relationships between parents and clinicians. Despite its pervasiveness, uncertainty is often perceived as toxic, conflictive and something to be eliminated or minimized. However, when acknowledged and accepted, it can become a source of hope and a foundation for trust between parents and clinicians. This article explores the existing literature on uncertainty in antenatal decision-making organized around three themes: harms, opportunities and recommendations. We highlight the challenges uncertainty poses for both parents and clinicians, including its potential to create conflict, feelings of loss, regret, and bias. At the same time, we emphasize the importance for clinicians to understand and embrace uncertainty to support parents, facilitate honest and balanced communication, and build trusting relationships. We acknowledge the need for more research on effective strategies to help productively navigate uncertainty and propose an approach to supporting parents by positively leveraging the inherent uncertainty in antenatal medical decision-making.
Decision science offers an opportunity to understand perspectives on perinatal decision making, from understanding risk and uncertainty, to decision-maker preferences. Here, I describe a specific instance of making perin...Decision science offers an opportunity to understand perspectives on perinatal decision making, from understanding risk and uncertainty, to decision-maker preferences. Here, I describe a specific instance of making perinatal medical decisions from the perspective of a decision scientist and a parent navigating clinical uncertainty. I explain how clinical encounters did and did not provide the required information needed to make choices informed by decision science methods and results. My purpose is to provide modest inspiration to those working at the intersection of decision science and perinatal/neonatal medicine about problems their disciplines could solve to improve the experience of decision-makers.Years before I would have children of my own, I read Detlof von Winterfeldt's account of his wife deciding whether to undergo a procedure to try and move her nearly-term fetus out of the breech position (1). He describes his analysis of the problem, informed by his wife's values and preferences. That analysis revealed that the best decision was unambiguously not to do the procedure, despite the opposing view of his wife's physician, who had not thought through what the evidence meant for them, nor considered von Winterfeldt's wife's preferences. The account is an illustrative description of the decision-analytic method, showing how science, beliefs, and values can be integrated into a framework to guide medical (and other) decision making.
BACKGROUND: In neonatology, end-of-life and complex ethical issues are frequent. This may lead to experiences of moral distress (MoD) for members of the clinical team. Here, we identify the causes, contributing factors,...BACKGROUND: In neonatology, end-of-life and complex ethical issues are frequent. This may lead to experiences of moral distress (MoD) for members of the clinical team. Here, we identify the causes, contributing factors, and contexts of MoD in the neonatal intensive care unit (NICU) and review interventions designed to manage complex ethical issues and alleviate MoD. We give a practical example of how support clinicians can help manage MoD. METHODS: Systematic reviews identify the causes, contributing factors, and contexts of MoD in NICUs as well as interventions to alleviate MoD. We trained an interdisciplinary team of support clinicians to be mentors in the NICU, to support other clinicians in managing the MoD associated with challenging cases. RESULTS: Managing MoD in NICUs is complex. Support clinicians actively assisted over 400 other clinicians. All were satisfied with the training and used their skills, mainly to optimize communication between clinicians and parents and/or for palliative care cases; 60% of all cases support clinicians managed were directly related to MoD; the majority resolved with initial reflective steps. CONCLUSION: An interdisciplinary and multifaceted approach to addressing MoD in the NICU can be operationalized through support clinicians providing interdisciplinary and multifaceted interventions.
Increased health care needs during the perinatal period can significantly impact a patient's quality of life. Health-related quality of life (HRQoL) reflects the impact of a patient's health on their physical, mental and...Increased health care needs during the perinatal period can significantly impact a patient's quality of life. Health-related quality of life (HRQoL) reflects the impact of a patient's health on their physical, mental and social wellbeing. Research has focused on development of tools suitable to measure HRQoL. These can be applied across the perinatal period from conception to postnatal care for use in clinical care, as an aid to shared decision making, in research and as an input to cost-effectiveness analyses used for resource allocation. HRQoL tools are a subset of Patient Reported Outcome Measures (PROMs), which help clinicians/researchers understand patient's experience of health. This essay serves as a primer to review the availability, validity and evidence of HRQoL tools for use in perinatal care. While some PROMs are routinely being implemented in pregnancy care, gaps remain regarding the specific impact of HRQoL tools on decision making and their potential use in family planning and neonatal care. Future research is needed to determine whether routine perinatal implementation of HRQoL tools will lead to stronger decision making for patients and providers. Involvement of parents in this process is essential to better understand how HRQoL tools can benefit decision making and perinatal care.
Despite childbirth being a leading cause of hospitalization, the system of care has not been optimized for patients in the United States. Rates of maternal mortality are high, increasing, and disproportionate. In additio...Despite childbirth being a leading cause of hospitalization, the system of care has not been optimized for patients in the United States. Rates of maternal mortality are high, increasing, and disproportionate. In addition to disparities in health outcomes, the quality of perinatal care, as assessed by patient experiences of care, is variable. Although clinicians strive to actively support families through labor and childbirth, various forms of mistreatment are common in perinatal care. Such instances of patient mistreatment highlight an urgent need to further enact respectful maternity care principles so that services are more person-focused and supportive. Welcoming clinical environments with relationship-centered care, trauma-informed interactions, and anti-racist practices support maternal autonomy. As a part of these quality care approaches, effective communication by clinicians helps patients understand their healthcare options and the events that shape their childbirth experiences. Nonstigmatizing interactions, using linguistically and culturally appropriate language, and integrating tools for shared decision making are essential elements of quality intrapartum care. A reproductive justice lens focuses attention on the need to eliminate infringements on health and build assurances to enable positive health outcomes and thriving.
Untreated obesity in pregnancy is associated with adverse fetal and neonatal outcomes that influence the long-term offspring health trajectory, propagating obesity and cardiometabolic disease from one generation to the n...Untreated obesity in pregnancy is associated with adverse fetal and neonatal outcomes that influence the long-term offspring health trajectory, propagating obesity and cardiometabolic disease from one generation to the next. The current efforts to reduce the risk of these negative outcomes through preconception weight loss remain largely ineffective. Anti-obesity medications (AOMs) are an understudied option for this indication, likely due to the potential for teratogenicity with accidental exposure during pregnancy. However, the current recommendation to discontinue all AOMs prior to conception fails to frame obesity within the chronic disease paradigm typically used for preconception counseling. Evolving evidence suggests that glucagon-like peptide 1 receptor agonists (GLP-1 RAs), the newest and most effective AOM class, may be safe in early pregnancy. Although further research is needed, counseling about GLP-1 RAs during pregnancy should include the potential for both risk and benefit. This review summarizes the known risks that obesity in pregnancy poses to the offspring and discusses the benefits and limitations of current treatment strategies. While there remain several barriers to optimal preconception and prenatal care for people with obesity, this review aims to arm providers with the knowledge needed for patient-centered counseling prior to and during pregnancy.
Ninety percent of pregnant patients take at least one medication during pregnancy. Physiological changes during pregnancy can alter drug exposure. Understanding basic physiological principles including absorption, distri...Ninety percent of pregnant patients take at least one medication during pregnancy. Physiological changes during pregnancy can alter drug exposure. Understanding basic physiological principles including absorption, distribution, metabolism and excretion can guide medication management during pregnancy. While physiologic changes related to medications used to treat hypothyroidism, depression and epilepsy are highlighted in this article, the principles of pharmacokinetic changes during pregnancy can be applied to other medical conditions where less data may exist. Given the complexity of pharmacology, physiological changes of pregnancy, and nuances of managing medical conditions, a team approach to managing medications in pregnancy is recommended. Comprehensive care including general and specialized physicians, pharmacists, genetic counselors and more can help provide the most appropriate care to this multifaceted patient population.
Maternal thyroid hormones are critical for normal fetal development, particularly brain development. The increase in metabolic demand of pregnancy results in critical physiologic thyroid changes which ultimately lead to...Maternal thyroid hormones are critical for normal fetal development, particularly brain development. The increase in metabolic demand of pregnancy results in critical physiologic thyroid changes which ultimately lead to an increase in thyroid hormone production. Placental iodothyronine deiodinases tightly regulate the transfer of thyroid hormone to the fetus. As such, too little or excess thyroid hormone can have a teratogenic effect. Therefore, diagnosis and management of thyroid disorders in pregnancy is necessary to prevent adverse maternal, fetal, and neonatal outcomes; however, it remains challenging, in part due to population-, laboratory-, and trimester-specific thyroid hormone reference ranges. Furthermore, certain areas of study remain controversial including whether treatment of subclinical hypothyroidism and isolated thyroid autoimmunity is warranted and consideration of the implementation of universal thyroid screening. This review summarizes the current literature on thyroid physiology and thyroid dysfunction in pregnancy including overt and subclinical hypothyroidism, hyperthyroidism, thyroid autoimmunity, thyroid storm, postpartum thyroiditis, and thyroid cancer.
The approach to respiratory support in preterm infants at birth has shifted from invasive to non-invasive techniques. The effectiveness of non-invasive respiratory support relies on a good mask seal and maintaining a pat...The approach to respiratory support in preterm infants at birth has shifted from invasive to non-invasive techniques. The effectiveness of non-invasive respiratory support relies on a good mask seal and maintaining a patent airway, but this appears to be more challenging than initially thought. The force applied to the mask must be sufficient for a good mask seal to reduce leak, but too much pressure on the face mask can inhibit breathing. Also, airway obstruction due to a closed glottis can prevent the lungs from being effectively ventilated. It is now evident that spontaneous breathing is essential for a patent airway, with oxygenation playing a key role in stimulating breathing. This can be improved by increasing the surface area available for gas exchange with appropriate continuous positive airway pressures (CPAP) and/or increasing the inspired oxygen concentration. Tactile stimulation can help promote spontaneous breathing, which promotes lung aeration and gas exchange potential, thereby improving oxygenation, which further improves the overall effectiveness of non-invasive respiratory support.
Congenital infections are an ongoing relevant cause of congenital and perinatal abnormalities since effective vaccination is not available for many diseases. Moreover, climate change, mutational evolution of pathogens, o...Congenital infections are an ongoing relevant cause of congenital and perinatal abnormalities since effective vaccination is not available for many diseases. Moreover, climate change, mutational evolution of pathogens, or their vectors associated with intense human traveling predispose to outbreaks and modification of the geographic distribution of traditionally limited infectious diseases. Here, we review the so-called TORCH infections (toxoplasmosis, others, rubella, cytomegalovirus, herpes) with a special emphasis on the arboviral infections (zika, dengue, chikungunya, oropouche). Although respiratory viruses are rarely transmitted through the placenta, the maternal condition itself can cause adverse effects on the developing embryo/fetus (COVID-19, influenza). Some perinatal-acquired infections will also be briefly discussed due to their relevance in the child's development. The majority of teratogenic congenital and some perinatal-acquired infections have effects on the central nervous system or sensory organs with long-lasting disabilities. Vaccines are unavailable for several teratogenic or perinatal infections, and treatment options are still limited, particularly for arboviral and other emergent diseases. Social inequalities are associated with the prevalence, fetal outcomes and long-term disabilities of these diseases. The One Health approach could be an essential way to reduce the burden of these diseases in the population.
Medication management in lactation is a challenging topic for healthcare practitioners around the world. In contrast to traditional advice, very few medications are now thought to be absolutely contraindicated in breastf...Medication management in lactation is a challenging topic for healthcare practitioners around the world. In contrast to traditional advice, very few medications are now thought to be absolutely contraindicated in breastfeeding. As data from case reports, quantitative studies of medication transfer to milk, and lactation physiology accumulate, fact-based guidance for use of medications can be increasingly provided. This review presents the strengths and weaknesses of current scientific knowledge underlying recommendations for use of medications during breastfeeding, describes key pharmacokinetic factors influencing infant drug exposure in breastmilk, and provides a practical algorithm and case study on use of clinical resources as well as pharmacologic data to help in development of a management plan for lactating individuals with various medication needs.
Pain management during pregnancy is a frequently encountered issue in clinical practice. It is important to balance treatment of maternal pain with the potential risks of medication exposure on fetal development. This re...Pain management during pregnancy is a frequently encountered issue in clinical practice. It is important to balance treatment of maternal pain with the potential risks of medication exposure on fetal development. This review examines the safety and risks associated with various pain medications, including nonsteroidal anti-inflammatory drugs, acetaminophen, steroids, opioids, gabapentinoids, and muscle relaxants. While many analgesic medications have demonstrated benefits for treatment of acute or chronic pain in pregnancy, others carry risks such as congenital anomalies, neonatal withdrawal syndrome, and adverse pregnancy outcomes. Data on long-term neurodevelopmental effects remain inconclusive for many medications. Given the limitations of available research, healthcare providers must weigh the benefits and risks of pain management strategies through informed, shared decision-making with patients. This review provides an evidence-based resource to guide clinicians in optimizing pain treatment during pregnancy while minimizing fetal and neonatal risks.
INTRODUCTION: The potential effects of psychotropic medications during pregnancy must be balanced against those of untreated maternal mental illness, which has been under-appreciated as an exposure that impacts developme...INTRODUCTION: The potential effects of psychotropic medications during pregnancy must be balanced against those of untreated maternal mental illness, which has been under-appreciated as an exposure that impacts development. METHODS: This is an expert, non-systematic literature review of the effect of maternal stress and psychotropic medication on fetal development. RESULTS: Studies on the outcomes of pregnancy and child development following exposures to stress, mental disorders and psychotropic medications during pregnancy are reviewed. Alterations in pharmacokinetics due to the physiology of pregnancy may change the efficacy of drug treatment. The impact of stress and mental health conditions in pregnancy is difficult to separate from other exposures; however, these exposures have adverse effects on fetal and child development independent from medication treatment. A focus on optimal treatment to reduce psychiatric symptoms, which is the justification for use of the drug, is critical. Building healthy fetal brains through adequate maternal essential nutrient intake holds promise to support reduction of the risk for adverse neurodevelopmental outcomes. CONCLUSION: Untreated maternal mental illness is an exposure that impacts outcomes, the course of comorbid medical disorders, and offspring development. The current knowledge base dictates that treatment of psychiatric disorders be prioritized in the benefit-harm decision process.