keyword
https://read.qxmd.com/read/38250570/newborn-pulse-oximetry-screening-for-detecting-congenital-heart-disease-experience-at-a-tertiary-care-center
#21
JOURNAL ARTICLE
Ziad R Bulbul, Nour K Younis, Farah Malaeb, Haytham Bou Hussein, Mariam Arabi, Fadi Bitar
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...
2024: International Journal of Pediatrics
https://read.qxmd.com/read/38222129/review-of-teratogenic-effects-of-leflunomide-accutane-thalidomide-warfarin-tetracycline-and-angiotensin-converting-enzyme-inhibitors
#22
REVIEW
Raegan B Abadie, Camryn L Keller, Nicholas T Jones, Erin L Mayeux, Rachel J Klapper, Lillian Anderson, Adam M Kaye, Shahab Ahmadzadeh, Giustino Varrassi, Sahar Shekoohi, Alan D Kaye
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...
December 2023: Curēus
https://read.qxmd.com/read/38203562/valproic-acid-in-pregnancy-revisited-neurobehavioral-biochemical-and-molecular-changes-affecting-the-embryo-and-fetus-in-humans-and-in-animals-a-narrative-review
#23
REVIEW
Asher Ornoy, Boniface Echefu, Maria Becker
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...
December 27, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/38197584/interaction-between-clinicians-and-artificial-intelligence-to-detect-fetal-atrioventricular-septal-defects-on-ultrasound-how-can-we-optimize-collaborative-performance
#24
JOURNAL ARTICLE
T G Day, J Matthew, S F Budd, L Venturini, R Wright, A Farruggia, T V Vigneswaran, V Zidere, J V Hajnal, R Razavi, J M Simpson, B Kainz
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...
January 10, 2024: Ultrasound in Obstetrics & Gynecology
https://read.qxmd.com/read/38186795/cardiovascular-disease-in-pregnancy-and-its-outcome-a-prospective-study
#25
JOURNAL ARTICLE
Dipali Prasad, Ravi Vishnu Prasad, Manoj Kumar Choudhary, Kanchan Kumari
INTRODUCTION: Prevalence estimates place maternal heart illness anywhere from 0.3 to 3.5 percent. Up to 20.5% of all maternal deaths of non-obstetrical cause are attributable to cardiovascular disease. AIM: The aim of the study was the management of patients with the multidisciplinary approach to maternal cardiovascular disease and its influence on maternal and fetal outcomes in a tertiary care centre. OBJECTIVES: 1. To find out the prevalence and spectrum of heart disease in Pregnancy...
November 2023: Journal of Family Medicine and Primary Care
https://read.qxmd.com/read/38171384/routine-echocardiography-is-not-required-in-neonates-with-arterial-ischemic-stroke
#26
JOURNAL ARTICLE
Indira Bhagat, Rohan Sarkar, Jayapalli R Bapuraj, Subrata Sarkar
Current guidelines suggest routine echocardiography (ECHO) in the acute phase to exclude a cardiac source for Neonatal arterial ischemic stroke (NAIS). However, the commonly assumed embolic origin from a cardiac source for NAIS is challenged and the need for ECHO in NAIS remains questionable, especially during the era of standard fetal anomaly scanning. Our hypothesis is that any complex cardiac defects potentially causing NAIS would likely be detected during routine prenatal scans, thus possibly making routine postnatal ECHO redundant...
January 3, 2024: American Journal of Perinatology
https://read.qxmd.com/read/38143692/isolated-increased-nuchal-translucency-with-normal-chromosomal-study-a-case-report
#27
Nihar R Bhoi, Vipin Chandra, Kshitiz Murdia, Taruna Jhamb
Increased nuchal translucency (NT) leads to a higher risk of fetal structural abnormalities. The measurement between 11 and 14 weeks gestation is a reliable marker for associated chromosomal abnormalities. Here, we present the case of a 33-year-old female with isolated high NT in the range of 5.6 mm at 12 weeks of gestational age. She was evaluated for chromosomal and structural abnormality and followed up meticulously. None of the tests showed any chromosomal or obvious structural abnormality. Fetal echocardiography revealed no structural cardiac defect...
November 2023: Curēus
https://read.qxmd.com/read/38131119/incidence-of-congenital-heart-disease-in-fetuses-diagnosed-with-single-isolated-umbilical-artery-systematic-review-and-meta-analysis
#28
JOURNAL ARTICLE
Armicson Felipe Solano M, Herney Andrés García-Perdomo
OBJECTIVE: To estimate the proportion of heart disease in fetuses with a prenatal diagnosis of a single isolated umbilical artery. METHODS: We performed a search strategy in MEDLINE (OVID), EMBASE, and the Cochrane Central Register of Controlled Trials (CENTRAL) from inception to the present. We assessed the risk of bias and performed a meta-analysis. We completed the subgroup analysis according to the region. RESULTS: We found 1384 studies by the search strategy...
January 2024: Birth Defects Research
https://read.qxmd.com/read/38128548/a-novel-smarcc1-bafopathy-implicates-neural-progenitor-epigenetic-dysregulation-in-human-hydrocephalus
#29
JOURNAL ARTICLE
Amrita K Singh, Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma, Shujuan Zhao, Kedous Y Mekbib, John P Shohfi, Phan Q Duy, Tyrone DeSpenza, Charuta G Furey, Benjamin C Reeves, Hannah Smith, André M M Sousa, Adriana Cherskov, August Allocco, Carol Nelson-Williams, Shozeb Haider, Syed R A Rizvi, Seth L Alper, Nenad Sestan, Hermela Shimelis, Lauren K Walsh, Richard P Lifton, Andres Moreno-De-Luca, Sheng Chih Jin, Paul Kruszka, Engin Deniz, Kristopher T Kahle
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery in children. Recent studies have implicated SMARCC1, a component of the BRG1-associated factor (BAF) chromatin remodeling complex, as a candidate congenital hydrocephalus (CH) gene. However, SMARCC1 variants have not been systematically examined in a large patient cohort or conclusively linked with a human syndrome. Moreover, CH-associated SMARCC1 variants have not been functionally validated or mechanistically studied in vivo...
December 21, 2023: Brain
https://read.qxmd.com/read/38123956/fetal-single-ventricle-journey-to-first-postnatal-procedure-a-multicentre-uk-cohort-study
#30
JOURNAL ARTICLE
Peter John Lillitos, Oscar Nolan, Daniel G W Cave, Catherine Lomax, Shuba Barwick, James R Bentham, Anna N Seale
OBJECTIVES: UK single ventricle (SV) palliation outcomes after first postnatal procedure (FPP) are well documented. However, survival determinants from fetal diagnosis to FPP are lacking. To better inform parental-fetal counselling, we examined factors favouring survival at two large UK centres. DESIGN: Retrospective multicentre cohort study. SETTING: Two UK congenital cardiac centres: Leeds and Birmingham. PATIENTS: SV fetal diagnoses from 2015 to 2021...
December 13, 2023: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://read.qxmd.com/read/38112807/parental-impressions-and-perspectives-of-efficacy-in-prenatal-counseling-for-single-ventricle-congenital-heart-disease
#31
JOURNAL ARTICLE
Taylor Hartzel Houlihan, Jill Combs, Elizabeth Smith, Elizabeth Coulter, Lucia Figueroa, Christine Falkensammer, Jill Savla, Elizabeth Goldmuntz, Karl Degenhardt, Anita Szwast, Amanda Shillingford, Jack Rychik
Although commonly performed, optimal techniques, strategies, and content to achieve the most effective prenatal counseling have not been explored. We investigate the efficacy of prenatal counseling via survey feedback of parents of children with prenatally diagnosed single ventricle. Grades of counseling using a Likert scale (1-5) were solicited to assess: (1) overall impression of quantity of counseling, (2) explanation of the heart defect, (3) preparation for heart surgery, (4) preparation for hospital course and care, (5) preparation for complications and outcomes of a Fontan circulation, and (6) preparation for neurological, school-related, or behavioral problems...
December 19, 2023: Pediatric Cardiology
https://read.qxmd.com/read/38107261/fetal-cardiac-magnetic-resonance-imaging-of-the-descending-aorta-in-suspected-left-sided-cardiac-obstructions
#32
JOURNAL ARTICLE
Katrin Fricke, Daniel Ryd, Constance G Weismann, Katarina Hanséus, Erik Hedström, Petru Liuba
BACKGROUND: Severe left-sided cardiac obstructions are associated with high morbidity and mortality if not detected in time. The correct prenatal diagnosis of coarctation of the aorta (CoA) is difficult. Fetal cardiac magnetic resonance imaging (CMR) may improve the prenatal diagnosis of complex congenital heart defects. Flow measurements in the ascending aorta could aid in predicting postnatal CoA, but its accurate visualization is challenging. OBJECTIVES: To compare the flow in the descending aorta (DAo) and umbilical vein (UV) in fetuses with suspected left-sided cardiac obstructions with and without the need for postnatal intervention and healthy controls by fetal phase-contrast CMR flow...
2023: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/38102779/usefulness-of-three-vessel-trachea-view-and-parasagittal-plan-for-prenatal-diagnosis-of-interrupted-aortic-arch
#33
Sidonie Monteiro, Ana Cunha, Diogo Carvalho Sá, Luís Guedes-Martins
BACKGROUND: Interrupted aortic arch (IAA) is a rare congenital heart disease characterized by loss of continuity between the ascending and the descending aorta. Prenatal diagnosis of IAA by echocardiography is challenging but nonetheless can be accomplished via a systematization of cardiac fetal evaluation. CASE PRESENTATION: We report a case of fetal IAA type A prenatally diagnosed through two-dimensional echocardiography using both a three vessel-trachea view and a sagittal view...
December 15, 2023: Birth Defects Research
https://read.qxmd.com/read/38101788/-clinical-characteristics-of-fetal-cardiac-disease-in-patients-with-anti-ssa-antibody-positive
#34
JOURNAL ARTICLE
Yu Fei Li, Ya Ni Yan, Jia Yang Jin, Chun Li, Qiu Yan Pei
OBJECTIVE: To investigate the clinical manifestations and laboratory indicators of anti-Sjögren's-syndrome-related antigen A (SSA) antibody associated fetal cardiac disease. METHODS: Pregnant women hospitalized at Peking University People's Hospital from January 2013 to July 2023 were included. Eleven patients with anti-SSA antibody positive were eventually diagnosed with fetal cardiac di-sease. And patients with anti-SSA antibody positive without fetal cardiac disease were selected as controls...
December 18, 2023: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://read.qxmd.com/read/38095322/left-atrial-strain-in-fetal-echocardiography%C3%A2-could-it-be-introduced-to-everyday-clinical-practice
#35
REVIEW
Edin Medjedovic, Zijo Begic, Milan Stanojevic, Buena Aziri, Edin Begic, Milan Djukic, Zorica Mladenovic, Asim Kurjak
OBJECTIVES: Prenatal cardiology is a part of preventive cardiology based on fetal echocardiography and fetal interventional cardiology, which facilitates treatment of congenital heart defects (CHD) in pediatric patients and consequently in adults. Timely prenatal detection of CHD plays a pivotal role in facilitating the appropriate referral of pregnant women to facilities equipped to provide thorough perinatal care within the framework of a well-structured healthcare system. The aim of this paper is to highlight the role of left atrial strain (LAS) in prenatal evaluation of fetal heart and prediction of structural and functional disorders...
February 26, 2024: Journal of Perinatal Medicine
https://read.qxmd.com/read/38082393/the-comprehensive-study-on-the-role-of-postn-in-fetal-congenital-heart-disease-and-clinical-applications
#36
JOURNAL ARTICLE
Yi Xia, Liang Chen, JinWen Lu, Jianhong Ma, Yuanzhen Zhang
BACKGROUND: Congenital heart defect (CHD) is the most common congenital abnormality, and it has long been a clinical and public health concern. Our previous findings have found Periostin (POSTN) and Pappalysin-1 (PAPPA) as potential biomarkers for fetal CHD. We aim to further elucidate POSTN's role in fetal heart development and explore the clinical applicability of POSTN and PAPPA as diagnostic marker for fetal CHD. This study is poised to establish a theoretical framework for mitigating the incidence of CHD and advance a novel approach for prenatal screening of fetal CHD...
December 11, 2023: Journal of Translational Medicine
https://read.qxmd.com/read/38042984/platypnea-orthodeoxia-syndrome-caused-by-patent-foramen-ovale-with-right-to-left-shunt
#37
JOURNAL ARTICLE
Waleed Al Saadi, Ali I Al-Lawati, Mujahid Al Busaidi, Sheeraz Ahmed, Zeyana Alhadhrami, Fahad Alkindi
BACKGROUND Patent Foramen Ovale (PFO) is an important part of fetal circulation. It allows the oxygenated blood from the umbilical cord to bypass the lungs. PFOs usually close after birth due to the sudden change of the hemodynamics associated with the expansion of the lungs however they are known to persist in about 25% of the total population. One of their rare manifestations is Platypnea-Orthodeoxia Syndrome (POS) that presents as dyspnea upon assuming an upright position, which improves upon recumbency, accompanied by hypoxemia...
December 3, 2023: American Journal of Case Reports
https://read.qxmd.com/read/38038141/comprehensive-phenotyping-of-fetuses-with-trisomy-18-a-perinatal-center-experience
#38
JOURNAL ARTICLE
Mangalore S Shravya, Katta M Girisha, Shalini S Nayak
Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a high mortality rate. Clinical assessment of fetal trisomy 18 is always challenging. In this study, we describe the phenotypes of the fetuses with trisomy 18 from a perinatal cohort. We reviewed fetuses with trisomy 18 in referrals for perinatal autopsy over the period of 15 years. A detailed phenotyping of the fetuses with trisomy 18 was executed by perinatal autopsy...
November 30, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/38030959/fetal-premature-atrial-contractions-natural-course-risk-factors-and-adverse-outcomes
#39
JOURNAL ARTICLE
B B Bet, F C Eijsbroek, E van Leeuwen, I H Linskens, I Knobbe, S A Clur, E Pajkrt
OBJECTIVE: Fetal premature atrial contractions (PACs) are usually benign, but are associated with congenital heart defects (CHDs) and tachyarrhythmias, which in turn carry a risk of cardiac failure and fetal death. We aimed to explore the frequency of adverse outcomes and to identify risk factors for tachyarrhythmias in pregnancies complicated by fetal PACs. METHODS: Fetuses diagnosed with PACs at two academic centres in Amsterdam between 2007 and 2022 were included in this retrospective cohort study...
November 29, 2023: Ultrasound in Obstetrics & Gynecology
https://read.qxmd.com/read/38029745/multi-chamber-cardioids-unravel-human-heart-development-and-cardiac-defects
#40
JOURNAL ARTICLE
Clara Schmidt, Alison Deyett, Tobias Ilmer, Simon Haendeler, Aranxa Torres Caballero, Maria Novatchkova, Michael A Netzer, Lavinia Ceci Ginistrelli, Estela Mancheno Juncosa, Tanishta Bhattacharya, Amra Mujadzic, Lokesh Pimpale, Stefan M Jahnel, Martina Cirigliano, Daniel Reumann, Katherina Tavernini, Nora Papai, Steffen Hering, Pablo Hofbauer, Sasha Mendjan
The number one cause of human fetal death are defects in heart development. Because the human embryonic heart is inaccessible and the impacts of mutations, drugs, and environmental factors on the specialized functions of different heart compartments are not captured by in vitro models, determining the underlying causes is difficult. Here, we established a human cardioid platform that recapitulates the development of all major embryonic heart compartments, including right and left ventricles, atria, outflow tract, and atrioventricular canal...
November 16, 2023: Cell
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