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Pregnant patients experience substantial emotional distress following a diagnosis of a fetal anomaly. Studies have examined mental health in this population, but to date, this research has not been summarized and analyzed. This scoping review aims to identify the psychological impact of a fetal anomaly diagnosis and its prevalence in this population. This is a scoping review based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) extension for scoping reviews (PRISMA-ScR). We searched for quantitative literature in PubMed, Embase, Scopus, and PsycINFO on the psychological impact of fetal anomaly diagnosis during pregnancy. A total of ten articles were reviewed. In this review, we identified symptoms of depression, anxiety, and traumatic stress in pregnant patients through various screening tools. Positive screening rates range from 21%-72% for depression, 18%-53% for anxiety, and 10%-38.98% for traumatic stress. Patients who were 25 or younger, had low income, or had a severe or unknown fetal prognosis, were more likely to screen positive on a measure of psychological distress. Pregnant patients experience substantial symptoms of depression, anxiety, and traumatic stress following fetal anomaly diagnosis, at rates higher than the general pregnant population. The variables that impact the trajectory of mental health throughout pregnancy with fetal anomaly are unclear and need further research. There is a lack of standardization of mental health identification and support in this population which makes comparison across studies difficult. Characteristics that affect mental health in this population need further research. Highlights Fetal anomaly diagnosis is a risk factor for perinatal depression, anxiety and traumatic stress. Rates of psychological distress are highest for pregnant individuals immediately following diagnosis of fetal anomaly. Prevalence rates are lower when measured later in pregnancy but remain higher than the rest of the pregnant population. There are a wide variety of psychometric scales used to identify psychological distress in this population, making comparisons across studies difficult.

Objective To conduct an epidemiological study based on notifications of births with congenital anomalies recorded in the Brazilian Live Birth Information System (SINASC). Methods We performed an observational study using SINASC data from 2010 to 2023. Annual birth rates, means, and time trends were analyzed. Congenital anomalies were classified according to the ICD-10 and a national priority list. Fisher’s Exact Test, with Bonferroni correction, was used to evaluate statistical associations between maternal-fetal characteristics and the presence of anomalies. Results A significant geographic disparity was observed, with São Paulo showing the highest mean annual incidence (1604.75 ± 241.63) and Maranhão the lowest (560.23 ± 163.19). Among priority anomalies, limb defects were the most frequent (60.41 ± 5.97 per 100,000 live births). Inferential analysis confirmed strong and consistent associations between congenital anomalies and key markers of neonatal compromise (5-minute Apgar score < 7, low birth weight and preterm birth), as well as advanced maternal age. Higher odds of registered anomalies in the Southeast region likely reflect differences in surveillance quality rather than true prevalence. Conclusion The findings indicate an increasing trend and a geographic heterogeneity in the incidence of congenital anomalies in Brazil. This finding reinforces the need to strengthen surveillance and prevention strategies, with a focus on the high-risk places identified in this study.

Head and Neck Vascular Anomalies: A Practical Case-Based Approach is a useful guide to the management of lesions caused by vascular anomalies, providing specific treatment algorithms for their management. This book offers consistent and straightforward techniques to the more frequently encountered and some of the more difficult vascular anomalies. Coming from the world-renowned vascular anomalies center at the University of Arkansas for Medical Sciences, known for its clinical expertise and multi-disciplinary approach, editors Dr. Suen and Dr. Richter have over 40 years combined experience in treating these lesions. With contributed chapters from international leaders in the field, the editors present a practical guide, based upon clinical and scientific evidence, on the approach to diagnosis and management to each vascular anomaly based upon type, extent and location. The book provides a case-based approach to simple and complex lesions. Initial steps for diagnosis followed by a recommended treatment approach is presented with photographs, imaging and step-by-step illustrations to surgical or alternative therapies. All presented information is based upon current literature, providing a timeless and seamless algorithm to each lesion. Each case begins with a diagnostic approach, followed by next best steps to imaging treatment and follow up. With the increasing number of vascular anomaly centers, and physicians participating in the care of these patients along with the recent advancements and consistency in managing these patients, the timing for this text is ideal.

Purpose Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses with structural anomalies on ultrasound. We report on the clinical impact of the implementation of prenatal ES (pES) for ongoing pregnancies in routine care. Methods We retrospectively analyzed the impact of pES on pregnancy outcome and pre- or perinatal management in the first 22 patients counseled for pES because of one or more structural anomalies on fetal ultrasound. Results In two cases, a diagnosis was made by chromosomal microarray analysis after ES counseling. The remaining 20 cases were divided in three groups: (1) pES to aid parental decision making ( n  = 12), (2) pES in the context of late pregnancy termination requests ( n  = 5), and (3) pES to guide pre- or perinatal management ( n  = 3). pES had a clinical impact in 75% (9/12), 40% (2/5), and 100% (3/3) respectively, showing an overall clinical impact of pES of 70% (14/20). Conclusion We show that clinical implementation of pES is feasible and affects parental decision making or pre- and perinatal management supporting further implementation of ES in the prenatal setting.

Abstract Second trimester fetal ultrasonography (USG) occasionally reveals an echogenic intragastric mass. These masses are usually small due to the organized debris from swallowed amniotic fluid, and they normally disappear in the third trimester. This report shows a fetal intragastric echogenic mass detected at 30 weeks of gestation that persisted as a large heterogeneously echoic mass even on the 10 th day after birth. The immediate postnatal USG features were consistent with the possibility of an intragastric soft tissue mass, though abdominal  radiographs and computed tomography (CT) with oral contrast were non-specific. The baby remained asymptomatic in the neonatal period and USG scanning again after a week showed normal stomach and other intra-abdominal visceral echoes.

Objectives: This study aimed to assess the diagnostic contribution of fetal MRI across different anatomical systems and evaluate its added value beyond prenatal ultrasonography. Methods: This retrospective cohort included 556 fetuses who underwent both prenatal ultrasound and fetal MRI in a single tertiary center. Cases were classified by anatomical system. The concordance between ultrasound and MRI findings, as well as additional or ruled-out findings identified by MRI, was analyzed. Statistical significance and clinical relevance were also evaluated. Results: Among the 556 cases, complete concordance between ultrasound and MRI findings was observed in 48.9%. MRI ruled out the initial diagnosis in 20.1% and revealed additional findings in 32% of cases. A total of 192 additional findings were identified, while 115 previously suspected anomalies were ruled out. The highest diagnostic contribution was observed in central nervous system (CNS) and gastrointestinal system (GIS) anomalies. Posterior fossa abnormalities and cystic or mass lesions were frequently detected as additional findings on MRI. In contrast, ultrasound alone was generally sufficient for evaluating genitourinary (GUS), thoracic, and vertebral anomalies. The overall diagnostic yield of MRI was higher in anatomically complex or sonographically ambiguous cases. Conclusions: Fetal MRI provides significant additional diagnostic value, particularly in CNS and GIS anomalies, by detecting additional findings, clarifying uncertain diagnoses, or excluding suspected anomalies. Its selective use may enhance both prenatal counseling and postnatal management.

This is the largely forgotten story of the rubella (German measles) epidemic of the early 1960s how in the United States it created a national anxiety about dying, disabled 'dangerous' babies.

Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies. We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia. A molecular diagnosis was obtained in 19 cases (19%). In 13 of these cases, the diagnosis was not initially suspected by the clinicians because the phenotype was nonspecific or atypical, corresponding in some cases to the severe end of the spectrum of a known disease (e.g., MNX1-, RYR1-, or TUBB-related disorders). In addition, we identified likely pathogenic variants in genes (DSTYK, ACTB, and HIVEP2) previously associated with phenotypes that were substantially different from those found in our cases. Finally, we identified variants in novel candidate genes that were associated with perinatal lethality, including de novo mutations in GREB1L in two cases with bilateral renal agenesis, which represents a significant enrichment of such mutations in our cohort. Our study opens a window on the distinctive genetic landscape associated with fetal anomalies and highlights the power—but also the challenges—of WES in prenatal diagnosis.

Background Fetal structural anomalies detected by prenatal ultrasound were reported in 3–5% of pregnancies, and they range from a single, minor anomaly to multiple systemic anomalies. Tests designed to identify the genetic factors (chromosomal or monogenic) responsible for the vast majority of fetal structural anomalies play a crucial role in prenatal diagnosis. A retrospective analysis was performed to assess the diagnostic yield and clinical efficiency of prenatal chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in diagnosis of fetuses with structural anomalies, and to explore genotype–phenotype correlations. Methods We retrospectively analyzed 391 fetuses referred for genetic testing due to sonographically detected structural anomalies. CMA was performed in 310 cases, and WES was conducted in 81 cases with prior negative CMA results. Detected copy number variants (CNVs) and sequence variants were classified according to ACMG guidelines. Cases were stratified into nine phenotypic categories based on ultrasonographic findings. Results CMA identified pathogenic CNVs in 13/310 cases (4.2%) and variants of uncertain significance (VUS) in 13/310 (4.2%). WES revealed pathogenic or likely pathogenic variants in 18/81 cases (22.2%) and VUS in 9/81 cases (11.1%). The highest diagnostic yield for CMA was observed in fetuses with cardiovascular anomalies (12%), and for WES in those with central nervous system anomalies (46.1%) and skeletal system anomalies (38.8%). Notably, eight novel likely pathogenic variants were identified. Incidental findings were detected in 2 WES cases. Conclusions CMA and WES provide complementary value in the genetic evaluation of fetal structural anomalies. While CMA remains a robust first-tier test, WES significantly enhances diagnostic yield, especially in cases with negative CMA and specific phenotypic features. Accurate ultrasonographic phenotyping and appropriate test selection are crucial for maximizing diagnostic outcomes in prenatal settings.