Value of Autopsy in Nonimmune Hydrops Fetalis: Series of 51 Stillborn Fetuses

2002 ◽  
Vol 5 (4) ◽  
pp. 365-374 ◽  
Author(s):  
Maria M. Rodríguez ◽  
Fernando Chaves ◽  
Rita L. Romaguera ◽  
Peter L. Ferrer ◽  
Claudia de la Guardia ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Vascular Malformations ◽  
Maternal Diabetes ◽  
Hydrops Fetalis ◽  
Prune Belly Syndrome ◽  
Fetal Ultrasonography ◽  
Nonimmune Hydrops

Nonimmune hydrops fetalis (NIHF) is used to describe fetuses and newborns with generalized edema and cavity effusions. It is helpful to alert physicians about the presence of anemia, heart failure, and/or hypoproteinemia, but this diagnosis is frequently overlooked. We reviewed the autopsy files from 1990 to 2000, selected all cases with NIHF including clinical information (with maternal laboratory tests and ultrasound), and classified patients by etiology. Among 840 stillborn autopsies during the 11-year period, we found 51 with NIHF (6.07%). The clinical summary had mentioned hydrops in 14 patients and the etiology in another 7 by fetal ultrasonography, but without addressing the possibility of hydrops. In the remaining 30 cases neither hydrops nor an etiology was mentioned. Other pertinent diagnoses were maternal diabetes mellitus (4), congenital heart disease (3), and cystic hygroma (2). The following diagnoses were made in one instance each: cardiac tumor, twin transfusion syndrome, congenital adenomatoid malformation, syphilis, Turner syndrome, and cerebral arteriovenous malformation. Postmortem and placental examination confirmed the following etiologies: congenital infections (17); placental pathology significant enough to explain NIHF (10); cardiovascular diseases (8) (further classified as congenital heart disease [3], rhabdomyoma [1], and vascular malformations [4]); chromosomal abnormalities (6); uncontrolled maternal diabetes (4); intrathoracic lesions (2); prune-belly syndrome (2); and idiopathic NIHF (2). Only 3.9% of the cases studied had no identifiable etiology. The cause of hydrops was confirmed by autopsy in 47 fetuses (92%), which further supports the importance of performing an autopsy. Thirty-two cases (62.74%) had placental abnormalities helpful to the etiology (parvovirus, syphilis, Turner's syndrome, etc.). In 20 instances, the clinical summary had no mention of either hydrops or any of the diseases leading to it. The autopsy in conjunction with placental examination and fetal ultrasound represent the best combination to determine the etiology of NIHF among stillborn fetuses.

Nonimmune Hydrops Fetalis in the Liveborn: Series of 32 Autopsies

2005 ◽  
Vol 8 (3) ◽  
pp. 369-378 ◽  
Author(s):  
María M. Rodríguez ◽  
Jocelyn H. Bruce ◽  
Xavier F Jiménez ◽  
Rita L. Romaguera ◽  
Eduardo Bancalari ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Cardiovascular Diseases ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Hydrops Fetalis ◽  
Urogenital Sinus ◽  
Prune Belly Syndrome ◽  
Congenital Infections ◽  
Nonimmune Hydrops

Nonimmune hydrops fetalis (NIHF) or generalized soft tissue edema and cavity effusions may be due to cardiovascular diseases, congenital infections, genitourinary malformations, thoracic masses, placental conditions, chromosomal abnormalities, and idiopathic. We report 32 cases of NIHF from among 429 neonates who underwent autopsies (incidence 7.45%). Sixteen cases (50%) had cardiovascular disease; all were due to low output cardiac failure; 7 had structural congenital heart disease. Three of the children with congenital heart disease also had chromosomal abnormalities: 2 had trisomy 18 and 1 had Noonan syndrome. Among myocardial conditions were five subjects with cardiomyopathies (1 of each of the following types): oncocytic, dilated, endocardial fibroelastosis, cardiac glycogenosis, and carnitine deficiency; 3 had myocarditis, and 1 had cardiac rhabdomyomas. Congenital infections were due to cytomegalovirus in 3 cases, bacteria in 2, and parvovirus in 1. The mechanism of NIHF in these cases might be a combination of decreased myocardial contractility due to myocarditis and fetal anemia. Genitourinary diseases were present in 5 newborns: Two had congenital nephrotic syndrome, 1 had VACTER association, 1 had prune-belly syndrome, and 1 had urogenital sinus malformation. Intrathoracic lesions were found in 2 babies (pulmonary sequestration and diaphragmatic hernia). One twin died of volume overload due to twin transfusion syndrome. Only 2 newborns were classified as idiopathic. Our study shows that cardiovascular diseases that lead to heart failure or impaired venous return are more common in the liveborn (50%), whereas congenital infections are more common in the stillborn with NIHF.

scholarly journals Risk Factors Associated with Congenital Heart Disease in Patients Presenting to Aljalila Cardiology Clinic between January 2020- May 2020: A Case Control Study

2021 ◽  
pp. 1-6
Author(s):  
Samah Alasrawi ◽  
◽  
Hessa Almansoori ◽  
Keyword(s):  
Risk Factors ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Maternal Smoking ◽  
Congenital Heart ◽  
Case Control Study ◽  
Maternal Diabetes ◽  
Case Control ◽  
Cardiology Clinic ◽  
Control Study

Objective: To investigate the association of maternal diabetes, maternal smoking and syndromes with congenital heart disease (CHD) in patients attending Aljalila cardiology clinic between January 2020 and May of 2020. Methods: A case control study to assess the association of maternal diabetes, maternal smoking and syndromes with CHD. All patients that presented to the clinic between January 2020 and May of 2020 were included. An interviewer administered questionnaire was used to record the presence of maternal diabetes, maternal smoking, and the type of syndrome and type of CHD. Patients with CHD were included in the case group and patients who did not have CHD were in the control group. Age, gender, and nationality were also collected from the hospital records. Fisher exact test and logistic regression was used to analyze the results. Results: A total of 177 cases and 211 controls were recruited. All the risk factors increase the risk of CHD, with maternal diabetes (OR 6.3, 95% CI 2.7-14.6) having the strongest association, then syndromes (OR 5.1, 95% CI 2.3-11.3) and lastly maternal smoking (OR 4.0, 95% CI 1.0-16.3). The most common type of CHD is ventricular septal defect. Conclusion: Maternal diabetes, maternal smoking and syndromes are significant risk factors of CHD in children visiting Aljalila cardiology clinic. Action needs to be taken in order to decrease these risk factors and so, decrease the incidence of CHD in the future. Clearly, more research is needed in order to identify other risk factors for patients in the United Arab Emirates (UAE)

scholarly journals Echocardiographic Study of Congenital Heart Disease in Infants of Diabetic Mother

2019 ◽  
Vol 8 (1) ◽  
pp. 43-47
Author(s):  
Babita Khanal ◽  
Manoj Kumar Shrivastava ◽  
Prakash Kafle ◽  
Pushpa Kumari Shah
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Heart Disease ◽  
Risk Factor ◽  
Heart Disease ◽  
Congenital Heart ◽  
College Teaching ◽  
Maternal Diabetes ◽  
Diabetic Mother ◽  
Medical College ◽  
Maternal Diabetes Mellitus

Background: Maternal diabetes mellitus (DM) has been shown to be high risk factor for congenital anomalies. It carries 3-5 times higher risk of incidence compared to the general population. The aims of present study is to investigate and portray the incidence of congenital heart disease in infants of diabetic mothers and know the utility of echocardiography in the early diagnosis of CHD at Nobel Medical College teaching hospital, a tertiary care centre in the eastern part of Nepal and review the current literature. Material & Methods: This is a prospective observational study conducted in Nobel Medical College Teaching hospital, Kanchanbari, Biratnagar Nepal over the period of 12 months. A structured questionnaire was designed which included demographic profile and the Echocardiography findings. The collected data were analysed using window’s SPSS version 20. Results: In the present study of the total deliveries 1.99 % was diabetic mother comprising 208 deliveries.127 had undergone echocardiography in which 10.2 % (n=13) had anomalies. One hundred sixteen were term and 11 were preterm. PDA was the most common anomaly (38.4%) followed by VSD (23.1%) and HCM (15.4%). Conclusion: With the review of current literature it has been found that maternal diabetes mellitus is a significant risk factor for congenital heart disease so it is suggested that the presence of diabetes mellitus in a pregnancy should be taken as a strong suspicious of having CHD and infants should be screened for the same .so as to diagnose the anomaly at the earliest possible.

scholarly journals Recent advances and challenges on application of tissue engineering for treatment of congenital heart disease

PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e5805 ◽  
Author(s):  
Antonia Mantakaki ◽  
Adegbenro Omotuyi John Fakoya ◽  
Fatemeh Sharifpanah
Keyword(s):  
Tissue Engineering ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Developmental Disorders ◽  
Vascular System ◽  
Vascular Malformations ◽  
Advanced Technology ◽  
The Impact ◽  
Promising Source

Congenital heart disease (CHD) affects a considerable number of children and adults worldwide. This implicates not only developmental disorders, high mortality, and reduced quality of life but also, high costs for the healthcare systems. CHD refers to a variety of heart and vascular malformations which could be very challenging to reconstruct the malformed region surgically, especially when the patient is an infant or a child. Advanced technology and research have offered a better mechanistic insight on the impact of CHD in the heart and vascular system of infants, children, and adults and identified potential therapeutic solutions. Many artificial materials and devices have been used for cardiovascular surgery. Surgeons and the medical industry created and evolved the ball valves to the carbon-based leaflet valves and introduced bioprosthesis as an alternative. However, with research further progressing, contracting tissue has been developed in laboratories and tissue engineering (TE) could represent a revolutionary answer for CHD surgery. Development of engineered tissue for cardiac and aortic reconstruction for developing bodies of infants and children can be very challenging. Nevertheless, using acellular scaffolds, allograft, xenografts, and autografts is already very common. Seeding of cells on surface and within scaffold is a key challenging factor for use of the above. The use of different types of stem cells has been investigated and proven to be suitable for tissue engineering. They are the most promising source of cells for heart reconstruction in a developing body, even for adults. Some stem cell types are more effective than others, with some disadvantages which may be eliminated in the future.

scholarly journals The role of DNA methylation in syndromic and non-syndromic congenital heart disease

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Jiali Cao ◽  
Qichang Wu ◽  
Yanru Huang ◽  
Lingye Wang ◽  
Zhiying Su ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Cardiac Development ◽  
Sample Type ◽  
Differentially Methylated Genes ◽  
Aberrant Dna Methylation

AbstractCongenital heart disease (CHD) is a common structural birth defect worldwide, and defects typically occur in the walls and valves of the heart or enlarged blood vessels. Chromosomal abnormalities and genetic mutations only account for a small portion of the pathogenic mechanisms of CHD, and the etiology of most cases remains unknown. The role of epigenetics in various diseases, including CHD, has attracted increased attention. The contributions of DNA methylation, one of the most important epigenetic modifications, to CHD have not been illuminated. Increasing evidence suggests that aberrant DNA methylation is related to CHD. Here, we briefly introduce DNA methylation and CHD and then review the DNA methylation profiles during cardiac development and in CHD, abnormalities in maternal genome-wide DNA methylation patterns are also described. Whole genome methylation profile and important differentially methylated genes identified in recent years are summarized and clustered according to the sample type and methodologies. Finally, we discuss the novel technology for and prospects of CHD-related DNA methylation.

scholarly journals Chromosomal Abnormalities and Congenital Heart Disease

Circulation ◽  
1967 ◽  
Vol 36 (6) ◽  
pp. 886-905 ◽  
Author(s):  
INGRID EMERIT ◽  
J. DE GROUCHY ◽  
P. VERNANT ◽  
P. CORONE
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chromosomal Abnormalities
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