Fetal cardiac defects

Fetal pleural effusion has been reported to be associated with chromosomal abnormalities, genetic syndromes, obstructive uropathy, lymphatic vessel abnormalities such as Noonan syndrome, RASopathy and congenital lymphatic anomalies, thoracic cavity defects, Rh or ABO incompatibility, non-immune hydrops fetalis, infections, congenital cardiac anomalies, metabolic diseases and hematologic diseases such as α-thalassemia. This review provides an overview of chromosomal abnormalities associated with fetal pleural effusion which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal pleural effusion...

INTRODUCTION: Congenital malformations of the central nervous system (CNS) are morphological abnormalities of the brain and spinal cord that occur during fetal development. They constitute the second most common congenital disability, after congenital cardiac defects. Many risk factors have been identified; however, these studies included various types of congenital abnormality. Furthermore, there is a lack of information on risk factors for congenital CNS malformation, and notably in the Zinder region of Niger...

PURPOSE: Our aim in this study was to investigate the prenatal and postnatal prognosis of double outlet right ventricle (DORV) cases diagnosed prenatally by analyzing the outcomes based on the subtype. METHODS: This study is a retrospective chart review. Cases diagnosed with fetal DORV by prenatal ultrasound in the maternal-fetal medicine department of our hospital between 2014 and 2022 were included. Data on maternal characteristics, fetal echocardiographic features (type of DORV), pregnancy and neonatal outcomes (termination of pregnancy [TOP], intrauterine fetal death [IUD], neonatal death [NND], death in infancy (IND), survival) were collected and analyzed...

INTRODUCTION: In bipolar women who took lithium during pregnancy, several epidemiology studies have reported small increases in a rare fetal cardiac defect termed Ebstein's anomaly. METHODS: Behavioral, environmental, and lifestyle-associated risk factors associated with bipolar disorder and health insurance status were determined from an Internet search. The search was conducted from October 1, 2023, through October 14, 2023. The search terms employed included the following: bipolar, bipolar disorder, mood disorders, pregnancy, congenital heart defects, Ebstein's anomaly, diabetes, hypertension, Medicaid, Medicaid patients, alcohol use, cigarette smoking, marijuana, cocaine, methamphetamine, narcotics, nutrition, diet, obesity, body mass index, environment, environmental exposures, poverty, socioeconomic status, divorce, unemployment, and income...

Obtaining a three-vessel (3V) and three-vessel and trachea (3VT) view from the fetal upper mediastinum is now considered to be part of standard imaging protocol for routine obstetric cardiac screening examinations. We report two fetal cases of an anomalous pulmonary artery origin, utilizing the standard 3V and 3VT views. Further imaging led to a rare diagnosis of bilateral ductus arteriosus with discontinuous branch pulmonary arteries in the absence of any other congenital heart defect. We briefly discuss the imaging features, differential diagnoses, and management of this rare entity...

A thoracoamniotic shunt was placed in a fetus affected by a right congenital diaphragmatic hernia (RCDH) complicated by voluminous nonimmune hydrops (NIH) at 30 weeks of gestation. The fetus showed congestive cardiac failure with a combined cardiac output (CCO) of 460.7 ml/min (Z-score: -1.2). After seven days, no edema, ascites, or pleural effusion was present. CCO increased significantly, reaching a Z-score of -0.2, as well as right and left cardiac output (Z-scores: -0.3 and -0.8, respectively). Two weeks later, the cardiac function and the ascites got worse despite the correct shunt placement, suggesting a possible occlusion...

OBJECTIVE: With advancements in cardiac surgical interventions during infancy and childhood, the incidence of maternal congenital heart disease (CHD) is increasing. This retrospective study compared fetal and cardiac outcomes in women with and without CHD, along with a sub-analysis between cyanotic versus non-cyanotic defects and operated versus non-operated cases. METHODS: A 10-year data were retrospectively collected from pregnant women with CHD and a 1:1 ratio of pregnant women without any heart disease...

Fetal-neonatal neurologists (FNNs) consider diagnostic, therapeutic, and prognostic decisions strengthened by interdisciplinary collaborations. Bio-social perspectives of the woman's health influence evaluations of maternal-placental-fetal (MPF) triad, neonate, and child. A dual cognitive process integrates "fast thinking-slow thinking" to reach shared decisions that minimize bias and maintain trust. Assessing the science of uncertainty with uncertainties in science improves diagnostic choices across the developmental-aging continuum...

Prenatal exposure to perfluorooctane sulfonate (PFOS) is associated with adverse health effects, including congenital heart disease, yet the underlying mechanisms remain elusive. Herein, we aimed to evaluate the embryotoxicity of PFOS using C57BL/6 J mice to characterize fetal heart defects after PFOS exposure, with the induction of human embryonic stem cells (hESC) into cardiomyocytes (CMs) as a model of early-stage heart development. We also performed DNA methylation analysis to clarify potential underlying mechanisms and identify targets of PFOS...

BACKGROUND: Fetal echocardiography can diagnose neonatal atrial flutter, which can cause heart failure in newborns. Little is known about catheter ablation in this population. METHODS: Case report that aimed to review a successful ablation in a 20-day-old patient with refractory atrial flutter. RESULTS: This is the first report of a successful neonatal atrial flutter ablation without any early recurrence after the procedure. CONCLUSIONS: Atrial flutter ablation performed on newborns is a reliable and long-lasting treatment option...

OBJECTIVE: Copy number variations (CNVs) detected by high-resolution single nucleotide polymorphism microarrays (SNP arrays) have been associated with congenital heart defects (CHDs). The genetic mechanism underlying the development of CHDs remains unclear. METHODS: High-resolution SNP arrays were used to detect CNVs and traditional chromosomal analyses, respectively, were carried out on 60 and 249 fetuses from gestational 12-37 weeks old, having isolated or complex CHDs that were diagnosed using prenatal ultrasound...

OBJECTIVES: Congenital ventricular outpouching (CVO) is a rare cardiac malformation that can manifest as congenital ventricular aneurysm (CVA) and/or congenital ventricular diverticula (CVD). In this study, we describe the prenatal features and postnatal follow-up of 27 cases of CVO. METHODS: The clinical data of 27 patients with CVO who attended Sir Run Run Shaw Hospital Affiliated to the Medical College of Zhejiang University (Zhejiang Province, China) and Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University (Zhejiang Province, China) from April 2013 to October 2022 were retrospectively analyzed...

BACKGROUND: Isolated redundant foramen ovale flap aneurysm (RFOA) in the absence of restrictive foramen ovale is believed to be a cause for pseudocoarctation of aorta since the impediment of blood flow to the left heart can be severe, resembling the picture of left ventricular hypoplasia with retrograde aortic flow. The primary objective of the study is to find whether RFOA is always a benign lesion. The main focus of the study is to share my experience in particular on fetuses having redundant foramen ovale flap aneurysm developing into coarctation of aorta and to study the associated factors...

Aflatoxin B1 (AFB1 ) is a subsidiary poisonous metabolite, archetypally spawned by Aspergillus flavus and A. parasiticus, which are often isolated in warm or tropical countries across the world. AFB1 is capable of disrupting the functioning of several reproductive endocrine glands by interrupting the enzymes and their substrates that are liable for the synthesis of various hormones in both males and females. In men, AFB1 is capable of hindering testicular development, testicular degeneration, and reduces reproductive capabilities...

We report a long QT syndrome 15 whose diagnosis was suspected during foetal life and confirmed at birth and was associated with congenital heart disease. Genetic testing revealed a rare mutation associated with the CALM2 gene. At 23 weeks of gestation, severe foetal sinus bradycardia (∼100 bpm) was detected. In the third trimester, the foetus developed severe right ventricular hypertrophy. At birth, the electrocardiogram showed a long QT interval of 640 ms, and after 1 hour, the newborn showed functional 2:1 atrioventricular block at ventricular rate of 50 bpm...

Congenital heart defects represent the most common structural anomalies observed in the fetal population, and they are often associated with significant morbidity and mortality. The fetal cardiac axis, which indicates the orientation of the heart in relation to the chest wall, is formed by the angle between the anteroposterior axis of the chest and the interventricular septum of the heart. Studies conducted during the first trimester have demonstrated promising outcomes with respect to the applicability of cardiac axis measurement in fetuses with congenital heart defects as well as fetuses with extracardiac and chromosomal anomalies, which may result in improved health outcomes and reduced healthcare costs...

BACKGROUND: Congenital heart disease (CHD) remains the number one birth defect worldwide. Pulse oximetry screening (POS) is a widely used CHD screening modality effective in detecting critical lesions. This study is aimed at assessing the accuracy and cost-effectiveness of POS in a cohort of term well-babies admitted to a regular nursery in a tertiary care center. METHODS: We reviewed the charts of term babies admitted to our regular nursery over a period of one year...

Teratogenic agents have been shown to have drastic and detrimental effects on fetuses if exposed to the agent during uterine life. The most sensitive time for a developing fetus is during the first trimester, and teratogenic exposure during this time can lead to severe deformities in the fetus. The Food and Drug Administration has categorized teratogenic agents based on the severity of their effect on the fetus; these categories include A, B, C, D, and X. Category A is the safest, with the most dangerous, and highly contraindicated in pregnant patients being Category X...

Valproic acid (VPA) is a very effective anticonvulsant and mood stabilizer with relatively few side effects. Being an epigenetic modulator, it undergoes clinical trials for the treatment of advanced prostatic and breast cancer. However, in pregnancy, it seems to be the most teratogenic antiepileptic drug. Among the proven effects are congenital malformations in about 10%. The more common congenital malformations are neural tube defects, cardiac anomalies, urogenital malformations including hypospadias, skeletal malformations and orofacial clefts...

OBJECTIVES: Artificial intelligence (AI) has shown promise in improving the performance of fetal ultrasound screening in detecting congenital heart disease (CHD). The effect of giving AI advice to human operators has not been studied in this context. Giving additional information about AI model workings, such as confidence scores for AI predictions, may be a way of improving performance further. Our aims were to investigate whether AI advice improved overall diagnostic accuracy (using a single CHD lesion as an exemplar), and to see what, if any, additional information given to clinicians optimized the overall performance of the clinician-AI team...