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Keywords = preconception counseling

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25 pages, 862 KB  
Review
Lifestyle Modifications Prior to Pregnancy and Their Impact on Maternal and Perinatal Outcomes: A Review
by Lincoln C. Kartchner, Addison Dunn, Kaitlyn H. Taylor, Mir M. Ali, Nirvana A. Manning, Nafisa K. Dajani and Everett F. Magann
J. Clin. Med. 2025, 14(18), 6582; https://doi.org/10.3390/jcm14186582 - 18 Sep 2025
Viewed by 1087
Abstract
Background/Objective: The preconception period serves as a time for patients to modify behaviors, pre-existing disease, and potential perinatal risk factors. The purpose of this review is to review preconception behavioral modification and its effect on pregnancy outcomes. Methods: Electronic databases (PUBMED, [...] Read more.
Background/Objective: The preconception period serves as a time for patients to modify behaviors, pre-existing disease, and potential perinatal risk factors. The purpose of this review is to review preconception behavioral modification and its effect on pregnancy outcomes. Methods: Electronic databases (PUBMED, CINAHL, and Embase) were searched. The search terms used were “healthy lifestyle” OR “life style” AND “fertility” OR “preconception care” OR “pre-pregnancy care” OR “pregnancy preparation”. Years searched were 1990–2024. Papers had to be in English. Results: Of the 301 abstracts identified, 189 full articles were selected to form this review. Preconception care (weight management, nutrition, management of pre-existing conditions, cessation of substance use, limitation to harmful environmental exposures, optimization of maternal mental health) has been shown to improve perinatal outcomes. While the benefit of preconception care has been established, compliance among reproductive aged patients is low. Reasons for low compliance in optimal preconception behavior appear to be multifactorial. While some programs have demonstrated promise in improving preconception care, more research needs to be done to improve counseling from providers as well as compliance among patients with the ultimate goal of optimizing perinatal outcomes. Conclusions: A comprehensive approach to physical, emotional, nutritional, environmental, and social well-being is essential to preconception care. Full article
(This article belongs to the Section Obstetrics & Gynecology)
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20 pages, 357 KB  
Review
Current Approaches to the Management of Rheumatic Diseases in Pregnancy: Risk Stratification, Therapeutic Advances, and Maternal–Fetal Outcomes
by Aikaterini-Gavriela Giannakaki, Maria-Nektaria Giannakaki, Anastasia Bothou, Konstantinos Nikolettos, Nikolaos Machairiotis, Kalliopi I. Pappa and Panagiotis Tsikouras
J. Pers. Med. 2025, 15(9), 406; https://doi.org/10.3390/jpm15090406 - 1 Sep 2025
Viewed by 834
Abstract
Background: Autoimmune rheumatic diseases, including systemic lupus erythematosus (SLE), antiphospholipid syndrome (APS), Sjögren’s syndrome, systemic sclerosis (SSc), and rheumatoid arthritis (RA), pose significant challenges during pregnancy and are associated with increased risks of adverse maternal and fetal outcomes, such as preeclampsia, fetal growth [...] Read more.
Background: Autoimmune rheumatic diseases, including systemic lupus erythematosus (SLE), antiphospholipid syndrome (APS), Sjögren’s syndrome, systemic sclerosis (SSc), and rheumatoid arthritis (RA), pose significant challenges during pregnancy and are associated with increased risks of adverse maternal and fetal outcomes, such as preeclampsia, fetal growth restriction (FGR), miscarriage, and preterm birth. The aim of this review is to synthesize recent evidence on pregnancy-related risks, preconception counseling, and therapeutic strategies for these conditions, with a particular focus on the importance of disease remission, pregnancy-compatible medications, and the selective use of biologics. Methods: A structured narrative review was conducted through a comprehensive PubMed search (2020–2025). Eligible studies addressed maternal–fetal outcomes, therapeutic approaches, and predictive factors in pregnant individuals with autoimmune rheumatic diseases. Results: Pregnancy outcomes have improved with early disease control and multidisciplinary care; however, major challenges persist. These include limited access to novel therapies, underrepresentation of diverse populations in clinical trials, and insufficient data on long-term neonatal outcomes. The strongest predictors of adverse outcomes remain disease activity at conception, specific autoantibody profiles, and systemic organ involvement. Conclusions: Optimal pregnancy outcomes for women with autoimmune rheumatic diseases require coordinated multidisciplinary care, the use of pregnancy-compatible medications, and achievement of prolonged disease remission prior to conception. Further research is needed to close existing knowledge gaps and ensure equitable, high-quality maternal–fetal care. Full article
(This article belongs to the Special Issue Personalized Medicine for Rheumatic Diseases)
13 pages, 241 KB  
Article
Impact of Pre-Pregnancy Body Mass Index on Pregnancy and Perinatal Outcomes in Liver Transplant Recipients: A Retrospective Cohort Study
by Eliza Kobryn, Zoulikha Jabiry-Zieniewicz, Nicole Akpang, Krzysztof Zieniewicz, Michal Grat, Artur Ludwin and Monika Szpotanska-Sikorska
Diagnostics 2025, 15(16), 2054; https://doi.org/10.3390/diagnostics15162054 - 16 Aug 2025
Viewed by 458
Abstract
Background: Pre-pregnancy overweight and obesity are established risk factors for adverse maternal and perinatal outcomes in the general obstetric population. However, data regarding their impact in female liver transplant recipients remain limited. This study aimed to evaluate the association between pre-pregnancy body [...] Read more.
Background: Pre-pregnancy overweight and obesity are established risk factors for adverse maternal and perinatal outcomes in the general obstetric population. However, data regarding their impact in female liver transplant recipients remain limited. This study aimed to evaluate the association between pre-pregnancy body mass index (BMI) and pregnancy-related complications and neonatal outcomes in this high-risk cohort. Methods: A retrospective cohort analysis was conducted on pregnancies in liver transplant recipients who delivered between 2001 and 2022 at a single tertiary referral center. Participants were stratified into two groups based on pre-pregnancy BMI: normal weight (18.5–24.9 kg/m2) and overweight/obese (≥25 kg/m2). Maternal characteristics, pregnancy complications, and perinatal outcomes were compared using appropriate statistical methods, with significance set at p < 0.05. Results: Among 72 pregnancies included in the analysis, 48 (66.7%) were in women with normal BMI, and 24 (33.3%) were in those with an elevated BMI. No statistically significant differences were observed in gestational age at delivery, neonatal birth weight, Apgar scores, or incidence of preterm birth. Although pregnancy-induced hypertension and cesarean delivery were more prevalent among overweight/obese individuals, these differences did not reach statistical significance (PIH: 28% vs. 10.4%, p = 0.112; cesarean delivery: 76% vs. 64.6%, p = 0.465). Conclusions: In conclusion, pre-pregnancy overweight and obesity were not significantly associated with adverse obstetric or neonatal outcomes in liver transplant recipients. Nevertheless, the observed trends suggest a potential predisposition to hypertensive disorders (PIH: 28% vs. 10.4%, p = 0.112), underscoring the importance of individualized preconception counseling and weight optimization strategies in this high-risk patient population. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Gynecologic Diseases, 3rd Edition)
15 pages, 721 KB  
Review
The Role of Lifestyle Intervention in Female Fertility: A Modifiable Factor for Preconception Health
by Marisa Donato, Antonio Capalbo, Elisena Morizio, Rosa Maria Fratini, Lucrezia Pilenzi, Francesco D’Antonio, Liborio Stuppia, Ester Vitacolonna, Valentina Gatta and Fani Konstantinidou
Nutrients 2025, 17(13), 2101; https://doi.org/10.3390/nu17132101 - 25 Jun 2025
Viewed by 3299
Abstract
Infertility is a growing global phenomenon affecting millions of individuals and is characterized by multifactorial causes, including both lifestyle and environmental factors. These include smoking, chronic exposure to environmental pollutants, stress, excessive caffeine or alcohol intake, drug use, improper eating habits and physical [...] Read more.
Infertility is a growing global phenomenon affecting millions of individuals and is characterized by multifactorial causes, including both lifestyle and environmental factors. These include smoking, chronic exposure to environmental pollutants, stress, excessive caffeine or alcohol intake, drug use, improper eating habits and physical inactivity. The potential to modify these behaviors has gained increasing interest due to its impact on reproductive health and its role in mitigating infertility. Preconception counseling has also emerged as a fundamental strategy, providing education and risk assessments to improve pregnancy outcomes. Among lifestyle factors, nutrition, body composition and physical activity significantly influence female fertility, emphasizing the strong connection between metabolism and reproductive function. Supplementation with anti-inflammatory nutrients, such as omega-3 polyunsaturated fatty acids (n-3 PUFAs), a key component of the Mediterranean diet, may offer benefits for female fertility, partially through the modulation of gene expression in reproductive tissues. However, the specific mechanisms linking diet and fertility remain unclear. The primary objective of this review is to explore how the modification of selected lifestyle factors, with particular reference to dietary habits, may positively influence the female reproductive system and improve fertility and pregnancy-related outcomes. Full article
(This article belongs to the Special Issue Diet, Maternal Nutrition and Reproductive Health)
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9 pages, 912 KB  
Review
Diagnostic and Therapeutic Challenges Between Peripartum and Influenza-Induced Inflammatory Cardiomyopathy—A Case Report and Literature Review
by Karolina Stachyra, Monika Zasztowt-Sternicka, Magdalena Litwinska, Ewelina Litwinska-Korcz, Izabela Walasik-Szewczyk, Zoulikha Jabiry-Zieniewicz and Monika Szpotanska-Sikorska
J. Clin. Med. 2025, 14(10), 3440; https://doi.org/10.3390/jcm14103440 - 14 May 2025
Viewed by 846
Abstract
Objectives: Peripartum cardiomyopathy (PPCM) is a life-threatening cause of heart failure in late pregnancy or postpartum, often difficult to distinguish from other types of cardiomyopathies, such as influenza-induced inflammatory cardiomyopathy (ICM). This case report highlights the diagnostic challenges of differentiating PPCM from ICM [...] Read more.
Objectives: Peripartum cardiomyopathy (PPCM) is a life-threatening cause of heart failure in late pregnancy or postpartum, often difficult to distinguish from other types of cardiomyopathies, such as influenza-induced inflammatory cardiomyopathy (ICM). This case report highlights the diagnostic challenges of differentiating PPCM from ICM and the management of this condition. Methods: A retrospective case analysis was conducted based on medical records from a tertiary centre in Warsaw, Poland, with a follow-up via phone consultations. A literature review was performed using PubMed, Scopus, and Google Scholar, incorporating relevant European Society of Cardiology guidelines. Results: A 34-year-old woman with a twin pregnancy at 36 + 5 weeks underwent a caesarean section and later experienced a syncopal episode. Elevated cardiac biomarkers and inflammatory markers suggested myocardial injury. Echocardiography showed reduced left ventricular function, raising concerns for PPCM or ICM. Cardiac magnetic resonance revealed left ventricular dysfunction without myocardial inflammation, supporting a PPCM diagnosis. Despite LVEF recovery to 65%, a Holter ECG at seven months postpartum showed persistent arrhythmias, necessitating referral for ablation. Conclusions: This case emphasizes the need for a thorough diagnostic approach to differentiate PPCM from conditions like ICM. Long-term monitoring, pre-conception counselling, and preventive strategies, such as influenza vaccination, are crucial for managing PPCM and preventing future complications. Full article
(This article belongs to the Section Cardiology)
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12 pages, 998 KB  
Review
Tamoxifen and Fertility in Women with Breast Cancer: A Systematic Review on Reproductive Outcomes and Oncological Safety of Treatment Interruption
by Mauro Francesco Pio Maiorano, Gennaro Cormio, Vera Loizzi, Brigida Anna Maiorano, Stella D’Oronzo and Erica Silvestris
Int. J. Mol. Sci. 2025, 26(8), 3787; https://doi.org/10.3390/ijms26083787 - 17 Apr 2025
Cited by 1 | Viewed by 2372
Abstract
Breast cancer (BC) is the most prevalent malignancy among women worldwide, with a rising incidence in young, premenopausal patients. For those diagnosed with hormone receptor-positive (HR+) BC, tamoxifen is a cornerstone of adjuvant endocrine therapy, significantly reducing recurrence risk and improving long-term survival. [...] Read more.
Breast cancer (BC) is the most prevalent malignancy among women worldwide, with a rising incidence in young, premenopausal patients. For those diagnosed with hormone receptor-positive (HR+) BC, tamoxifen is a cornerstone of adjuvant endocrine therapy, significantly reducing recurrence risk and improving long-term survival. However, its prolonged use poses challenges for women desiring pregnancy, prompting interest in temporary treatment interruption as a strategy to achieve reproductive goals while maintaining oncological safety. This systematic review evaluates the impact of tamoxifen on fertility, the feasibility of treatment interruption, and associated reproductive and oncological outcomes. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we conducted a comprehensive search across major databases, identifying three relevant studies, including one randomized controlled trial (RCT) and two observational cohort studies. The findings suggest that temporary tamoxifen interruption allows for successful pregnancies without significantly increasing short-term recurrence rates. Notably, the POSITIVE trial demonstrated a pregnancy achievement rate of 74% and a live birth rate of 63.8%, with comparable three-year disease-free survival between patients who interrupted tamoxifen and those who continued therapy. However, concerns remain regarding tamoxifen’s teratogenic risks, emphasizing the need for strict contraceptive measures and preconception counseling. Despite emerging evidence supporting this approach, long-term safety data are limited. Further research is warranted to refine clinical recommendations and optimize reproductive counseling for young BC survivors. Full article
(This article belongs to the Special Issue Female Infertility and Fertility)
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10 pages, 242 KB  
Article
Incidentally Identified Basal Plate Myometrial Fibers and Hemorrhage Risk in the Subsequent Pregnancy
by Gianna T. Le, Galen Schauer, Yun-Yi Hung, Yunjie Li, Miranda Ritterman Weintraub and Mara B. Greenberg
Reprod. Med. 2025, 6(2), 10; https://doi.org/10.3390/reprodmed6020010 - 14 Apr 2025
Viewed by 1347
Abstract
Background/Objectives: This study examines index pregnancies with histopathological diagnosis of placenta accreta, based on findings of basal plate myometrial fibers (BPMFs) without intervening decidua, and the risk of hemorrhagic morbidity and/or clinically adherent placenta in the subsequent pregnancy. Outcomes were compared between index [...] Read more.
Background/Objectives: This study examines index pregnancies with histopathological diagnosis of placenta accreta, based on findings of basal plate myometrial fibers (BPMFs) without intervening decidua, and the risk of hemorrhagic morbidity and/or clinically adherent placenta in the subsequent pregnancy. Outcomes were compared between index pregnancies with incidental asymptomatic BPMF findings and those with symptoms based on hemorrhagic and placental factors. Methods: A retrospective cohort study was conducted at a large, integrated healthcare system from 2008 to 2019. All patients with an index finding of BPMF without intervening decidua and subsequent delivery of a live singleton were identified. Index pregnancies with BPMF were categorized as asymptomatic or symptomatic by the absence or presence of hemorrhagic morbidity and/or clinically adherent placenta. Rates of hemorrhagic morbidity and clinically adherent placenta in the subsequent pregnancy were compared among asymptomatic and symptomatic BPMF index pregnancies in bivariate analyses and multivariate models controlling for potential confounders. Results: A total of 140 patients were found to have BPMF and a subsequent delivery of a live singleton. Subsequent hemorrhagic morbidity/adherent placenta occurred in 28% of cases, with a lower incidence in asymptomatic patients (8% vs. 39%, p < 0.0001). Symptomatic BPMF was associated with increased odds of hemorrhagic morbidity/adherent placenta (aOR 10.2, 95% CI 2.7–38.4). Among 71 patients with subsequent placental pathology, 32% had recurrent BPMF, which correlated with higher morbidity compared to those without recurrence or those without placental pathology (61% vs. 40% vs. 9%, p < 0.0001). Conclusions: Incidentally identified BPMF was associated with a lower rate of subsequent hemorrhagic morbidity and/or adherent placenta compared to symptomatic BPMF. Symptomatic BPMF is highly associated with hemorrhagic morbidity and/or adherent placenta in the next pregnancy compared with incidentally identified BPMF, particularly if it is recurrent. These data can inform counseling and management of pregnant individuals with BPMF planning subsequent pregnancies. Full article
(This article belongs to the Special Issue Feature Papers in Reproductive Medicine 2024)
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16 pages, 586 KB  
Article
The Development of a Multidisciplinary Care Pathway for Patients with Inflammatory Bowel Disease Before, During and After Pregnancy
by Els De Dycker, Sien Lenie, Michael Ceulemans, Patricia Geens, Tessy Lambrechts, Elien Loddewijkx, Ariane Paps, Justien Degry, Caroline D’Hondt, Annelies Matthijs, Séverine Vermeire, João Sabino, Bram Verstockt, Lore Lannoo, Kristel Van Calsteren and Marc Ferrante
J. Clin. Med. 2025, 14(8), 2644; https://doi.org/10.3390/jcm14082644 - 11 Apr 2025
Viewed by 831
Abstract
Background/Objectives: Recent advancements have significantly enhanced our understanding of the interplay between inflammatory bowel disease (IBD) and reproductive health. While international organizations provide guidelines for best practices, translating them into actionable strategies is crucial. This study aimed to develop a comprehensive care [...] Read more.
Background/Objectives: Recent advancements have significantly enhanced our understanding of the interplay between inflammatory bowel disease (IBD) and reproductive health. While international organizations provide guidelines for best practices, translating them into actionable strategies is crucial. This study aimed to develop a comprehensive care pathway to enhance preconception counselling and support for patients with IBD in the perinatal period, ensuring they receive optimal expert care. Methods: We used the 7-phase model for the development of the care pathway. Results: The resulting care pathway, structured as a time–task matrix, outlines the required actions at preconception, during pregnancy, and in the postpartum period for women with IBD. The pathway provides a structured and multidisciplinary approach that addresses the unique needs of patients with IBD of childbearing age. It emphasizes holistic and personalized support throughout the preconception, pregnancy, and postpartum period. Conclusions: The development of this care pathway represents a significant advancement in the perinatal management of IBD. By offering multidisciplinary and individualized care, optimal maternal and infant outcomes are pursued, while establishing a new global standard for reproductive health and perinatal management. Full article
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22 pages, 3818 KB  
Review
Navigating Diabetes in Pregnancy: Critical Approaches to Mitigate Risks and Improve Outcomes for Mother and Child
by Zoe Paige Garvey, Abhishek Gupta, Nicole Taylor, Mahesh Thirunavukkarasu and Nilanjana Maulik
Metabolites 2025, 15(3), 180; https://doi.org/10.3390/metabo15030180 - 6 Mar 2025
Cited by 1 | Viewed by 1859
Abstract
With the increasing prevalence of diabetes and its growing impact on maternal and fetal health, management during pregnancy has become critical. This review describes the pathophysiology of insulin resistance during pregnancy, adverse outcomes correlated with diabetic pregnancies, and current management strategies. We investigate [...] Read more.
With the increasing prevalence of diabetes and its growing impact on maternal and fetal health, management during pregnancy has become critical. This review describes the pathophysiology of insulin resistance during pregnancy, adverse outcomes correlated with diabetic pregnancies, and current management strategies. We investigate two leading approaches to managing pregnant patients with diabetes—lifestyle intervention and drug treatment. Lifestyle intervention, including dietary counseling, exercise regimens, patient education, and self-administered blood glucose monitoring, has demonstrated promising results in the management and prevention of gestational diabetes mellitus (GDM). Early intervention and treatment of at-risk patients have been critical for positive outcomes. Drug treatment, focusing on the utilization of insulin, insulin analogs, and antihyperglycemic agents has shown efficacy in achieving glycemic control and improving maternal and neonatal outcomes. These findings indicate that a combination of early lifestyle intervention and targeted drug treatment yields the most benefit in managing diabetes in pregnancy. To augment treatment, continuous glucose monitoring and telemedicine have become valuable tools in managing diabetes during pregnancy. Future research should aim to develop more effective antihyperglycemic agents, improve telehealth accessibility, and enhance preconception care for women at risk of developing GDM. By addressing these areas, we can significantly reduce the adverse outcomes associated with diabetes in pregnancy and improve overall maternal and fetal health. Full article
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9 pages, 207 KB  
Review
Radioiodine Therapy of Graves’ Disease in Women with Childbearing Potential and the Pre-Conceptional Counseling About Antithyroid Drugs
by Markus Dietlein, Matthias Schmidt, Alexander Drzezga and Carsten Kobe
J. Clin. Med. 2025, 14(5), 1667; https://doi.org/10.3390/jcm14051667 - 28 Feb 2025
Cited by 1 | Viewed by 975
Abstract
Graves’ disease and hyperthyroidism in women with childbearing potential are a challenge in pre-conceptional counseling. The non-surgical alternatives are radioiodine therapy or antithyroid drugs. Here, we focus on the TSH receptor antibody (TRAb) level—without or after radioiodine therapy—and the probability of fetal or [...] Read more.
Graves’ disease and hyperthyroidism in women with childbearing potential are a challenge in pre-conceptional counseling. The non-surgical alternatives are radioiodine therapy or antithyroid drugs. Here, we focus on the TSH receptor antibody (TRAb) level—without or after radioiodine therapy—and the probability of fetal or neonatal hyperthyroidism. This immunological effect should be weighed against the risk of congenital malformation taking propylthiouracil during pregnancy. For up to 2 years after radioiodine therapy for Graves’ disease, TRAb levels may remain above the pre-therapeutic level. The time of conception after radioiodine therapy and a high TRAb level are associated with the likelihood of neonatal hyperthyroidism: 8.8% probability if conception occurred 6–12 months after radioiodine therapy, with a 5.5% probability for 12–18 months, and 3.6% probability for 18–24 months. The TRAb value above 10 U/L in the third trimester is the main risk factor for neonatal hyperthyroidism. If a woman does not wish to postpone her family planning, the pre-conceptional counseling has to describe the risk of propylthiouracil, thiamazole, or of an uncontrolled hyperthyroidism. According to some national cohort studies (Danish, Swedish, Korean), the risk for fetal malformations (ear, urinary tract) under propylthiouracil is increased by 1.1–1.6%, in addition to the spontaneous risk for unexposed pregnant women. For thiamazole, the additional risk for fetal malformation was about 2–3%, depending on the dose of thiamazole. Propylthiouracil has posed a lower risk for congenital malformation than an uncontrolled hyperthyroidism. To minimize the risk for the newborn, women with Graves’ disease and hyperthyroidism should offer a definitive therapy strategy (e.g., radioiodine therapy) long before planning a pregnancy. Full article
(This article belongs to the Special Issue Thyroid Disease: Updates from Diagnosis to Treatment)
13 pages, 558 KB  
Review
Gestational Weight Gain as a Modifiable Risk Factor in Women with Extreme Pregestational BMI
by Chiara Lubrano, Federica Locati, Francesca Parisi, Gaia Maria Anelli, Manuela Wally Ossola and Irene Cetin
Nutrients 2025, 17(4), 736; https://doi.org/10.3390/nu17040736 - 19 Feb 2025
Cited by 4 | Viewed by 2949
Abstract
The global rise in obesity presents serious concerns, particularly due to its association with pregnancy complications such as gestational diabetes, preeclampsia, cesarean delivery, and fetal macrosomia. Maternal obesity also contributes to intergenerational health risks, increasing the likelihood of long-term issues in offspring. Preconception [...] Read more.
The global rise in obesity presents serious concerns, particularly due to its association with pregnancy complications such as gestational diabetes, preeclampsia, cesarean delivery, and fetal macrosomia. Maternal obesity also contributes to intergenerational health risks, increasing the likelihood of long-term issues in offspring. Preconception counseling is an essential preventive measure to reduce complications; however, many women miss this opportunity due to unplanned pregnancies. This study explores the impact of pregestational body mass index (BMI) and gestational weight gain (GWG) on pregnancy outcomes, underscoring the importance of routine monitoring of these parameters. Existing studies identify both BMI and GWG as independent risk factors for adverse maternal and neonatal outcomes, with elevated BMI combined with excessive GWG posing an even greater risk. Specifically, a BMI > 30 kg/m2 doubles the risk of complications such as gestational diabetes, hypertension, and cesarean delivery. Additionally, a review of national and international guidelines highlights a lack of consensus on managing gestational weight gain in women with obesity, particularly regarding antepartum surveillance and timing of delivery. Similarly, no specific guidelines have been established for underweight pregnant women. Additionally, few studies have thoroughly assessed the maternal and fetal risks associated with underweight during pregnancy. Despite this, numerous studies have highlighted an increased risk of preterm birth (PTB) and small-for-gestational-age (SGA) infants. This narrative review emphasizes the need for further research to develop tailored guidelines for managing pregnant women based on pregestational BMI, ultimately improving maternal and neonatal health outcomes. Full article
(This article belongs to the Special Issue Maternal Diet, Body Composition and Offspring Health)
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9 pages, 198 KB  
Case Report
Maternal Phenylketonuria: Consequences of Dietary Non-Adherence and Gaps in Preconception Care—A Case Report
by Julia Donarska, Anna Weronika Szablewska and Jolanta Wierzba
J. Clin. Med. 2025, 14(4), 1102; https://doi.org/10.3390/jcm14041102 - 9 Feb 2025
Viewed by 1842
Abstract
Background: Maternal phenylketonuria (PKU), a metabolic disorder caused by defective phenylalanine hydroxylase activity, requires strict lifelong dietary management to prevent toxic phenylalanine accumulation. During pregnancy, non-adherence to a low-phenylalanine diet can lead to maternal PKU syndrome, resulting in severe neonatal complications, including microcephaly, [...] Read more.
Background: Maternal phenylketonuria (PKU), a metabolic disorder caused by defective phenylalanine hydroxylase activity, requires strict lifelong dietary management to prevent toxic phenylalanine accumulation. During pregnancy, non-adherence to a low-phenylalanine diet can lead to maternal PKU syndrome, resulting in severe neonatal complications, including microcephaly, congenital heart defects, and growth restrictions. Despite advances in metabolic management and preconception care guidelines, adherence remains a significant challenge, particularly among adults transitioning out of pediatric care. This case report examines the clinical consequences of dietary non-adherence in maternal PKU, highlighting the importance of preconception education, metabolic monitoring, and multidisciplinary care in preventing adverse neonatal outcomes. Methods: Using the CARE guidelines, we present the clinical course of a male neonate born to a mother with untreated PKU. Results: The analysis incorporates maternal dietary history, prenatal care details, and neonatal outcomes. Additionally, a review of current literature on maternal PKU management and outcomes contextualizes the findings. The neonate, delivered at 38 weeks via cesarean section, exhibited low birth weight (2150 g), severe microcephaly (head circumference: 28 cm), microphthalmia, and septal heart defects. Maternal dietary non-adherence, beginning in late adolescence, contributed to significantly elevated phenylalanine levels during pregnancy (>20 mg/dL). Prenatal care was initiated in the 23rd week of gestation, delaying dietary intervention. The mother reported limited understanding of the teratogenic risks associated with poor dietary control, which was compounded by gaps in preconception counseling and care continuity. Conclusions: This case underscores the critical need for comprehensive preconception education and lifelong metabolic management for women with PKU. Early and sustained dietary adherence is essential to mitigate neonatal risks. Public health initiatives should prioritize access to preconception care, enhance patient education, and establish robust multidisciplinary support systems to optimize maternal and neonatal outcomes. Addressing barriers such as delayed care initiation and limited dietary support can significantly reduce the burden of maternal PKU syndrome. Full article
(This article belongs to the Section Obstetrics & Gynecology)
33 pages, 11065 KB  
Opinion
Thalassemias and Sickle Cell Diseases in Pregnancy: SITE Good Practice
by Valeria Maria Pinto, Rosanna Cima, Rosario Di Maggio, Maria Livia Alga, Antonia Gigante, Filomena Longo, Anna Maria Pasanisi, Donatella Venturelli, Elena Cassinerio, Maddalena Casale, Raffaella Origa, Giovanni Zanconato, Gian Luca Forni and Lucia De Franceschi
J. Clin. Med. 2025, 14(3), 948; https://doi.org/10.3390/jcm14030948 - 1 Feb 2025
Viewed by 2903
Abstract
Background: Hereditary hemoglobin disorders are the most common globally distributed monogenic red cell diseases. The rights of women with thalassemia or sickle cell disease (SCD) to motherhood need to be protected by creating a roadmap to guide her, and her family network, along [...] Read more.
Background: Hereditary hemoglobin disorders are the most common globally distributed monogenic red cell diseases. The rights of women with thalassemia or sickle cell disease (SCD) to motherhood need to be protected by creating a roadmap to guide her, and her family network, along all the phases of the event. In fact, pregnancy in these vulnerable patients requires special attention and guidelines from the counseling stage (giving information about the special requirement and risks posed by their pregnancy with respect to the general population) the pre-conception stage, the early and mid-late pregnancy stage, to labor and lactation. The biocomplexity of these diseases requires a multidisciplinary team synergizing with gynecologists and obstetricians. In addition, the presence of a multicultural scenario requires healthcare workers to overcome stereotypes and adopt appropriate anthropological tools that might help them integrate the different cultural models of disease and motherhood. Methods: The Management Committee of the Society for Thalassemia and Hemoglobinopathies (SITE) selected and brought together a multidisciplinary and multiprofessional group made up of experts in hemoglobinopathies and experts in anthropology, flanked along with by experts with methodological and organizational expertise in order to create recommendations based on the integration of available scientific evidence together with expert opinion. Results: The panelists critically analyzed the literature, combining in a single document practices developed over several years of managing young women with hemoglobinopathies in a sensitive phase of their lives. Conclusions: This good practice document is the result of a collegial effort by Italian experts on hemoglobinopathies who are members of SITE. (SITE). Full article
(This article belongs to the Section Hematology)
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18 pages, 1005 KB  
Review
Preconceptional and Periconceptional Folic Acid Supplementation in the Visegrad Group Countries for the Prevention of Neural Tube Defects
by Vanda Rísová, Rami Saade, Vladimír Jakuš, Lívia Gajdošová, Ivan Varga and Jozef Záhumenský
Nutrients 2025, 17(1), 126; https://doi.org/10.3390/nu17010126 - 31 Dec 2024
Cited by 4 | Viewed by 4650
Abstract
Neural tube defects (NTDs) are malformations of the central nervous system that represent the second most common cause of congenital morbidity and mortality, following cardiovascular abnormalities. Maternal nutrition, particularly folic acid, a B vitamin, is crucial in the etiology of NTDs. FA plays [...] Read more.
Neural tube defects (NTDs) are malformations of the central nervous system that represent the second most common cause of congenital morbidity and mortality, following cardiovascular abnormalities. Maternal nutrition, particularly folic acid, a B vitamin, is crucial in the etiology of NTDs. FA plays a key role in DNA methylation, synthesis, and repair, acting as a cofactor in one-carbon transfer reactions essential for neural tube development. Randomized trials have shown that FA supplementation during preconceptional and periconceptional periods reduces the incidence of NTDs by nearly 80%. Consequently, it is recommended that all women of reproductive age take 400 µg of FA daily. Many countries have introduced FA fortification of staple foods to prevent NTDs, addressing the high rate of unplanned pregnancies. These policies have increased FA intake and decreased NTD incidence. Although the precise mechanisms by which FA protects against NTDs remain unclear, compelling evidence supports its efficacy in preventing most NTDs, leading to national recommendations for FA supplementation in women. This review focuses on preconceptional and periconceptional FA supplementation in the female population of the Visegrad Group countries (Slovakia, Czech Republic, Poland, and Hungary). Our findings emphasize the need for a comprehensive approach to NTDs, including FA supplementation programs, tailored counseling, and effective national-level policies. Full article
(This article belongs to the Section Nutritional Policies and Education for Health Promotion)
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14 pages, 764 KB  
Review
Pre-Pregnancy Counselling for Women with Rheumatoid Arthritis: A Guide on Risks, Evaluations, and Multidisciplinary Approaches
by Ioana Cristina Saulescu, Anca Maria Panaitescu, Nicolae Gică, Elena Grădinaru and Daniela Opris-Belinski
J. Clin. Med. 2025, 14(1), 114; https://doi.org/10.3390/jcm14010114 - 28 Dec 2024
Cited by 2 | Viewed by 2394
Abstract
This paper explores the essential role of pre-pregnancy counselling for women with rheumatoid arthritis (RA), focusing on minimising risks and optimising pregnancy outcomes. RA, a prevalent inflammatory arthritis with onset during childbearing years, necessitates targeted preconception counselling to manage disease activity and comorbidities [...] Read more.
This paper explores the essential role of pre-pregnancy counselling for women with rheumatoid arthritis (RA), focusing on minimising risks and optimising pregnancy outcomes. RA, a prevalent inflammatory arthritis with onset during childbearing years, necessitates targeted preconception counselling to manage disease activity and comorbidities effectively. The counselling ensures medication compatibility and planning around disease flares, and it involves a multidisciplinary team comprising rheumatologists, obstetricians, and other specialists to develop individualised care plans. This literature review highlights the challenges women with RA face, including prolonged time to pregnancy, increased risks during pregnancy, such as hypertension and preeclampsia, and potential fertility issues related to medication and disease activity. Emphasis is placed on the importance of assessing autoantibody presence and managing specific joint involvements that may affect anaesthetic procedures during pregnancy. This paper underscores the importance of timing conception during periods of low disease activity and adopting a “Treat-to-Target” approach using acceptable medications to maintain disease remission. This study calls for routine family planning discussions and preconception evaluations to address reproductive health and treatment plans, thereby supporting women with RA in achieving favourable pregnancy outcomes comparable to the general population. The multidisciplinary approach and regular counselling are critical to navigating the complexities of RA and pregnancy successfully. Full article
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