IMPACT OF PRENATAL DIAGNOSIS ON THE PAEDIATRIC MANAGEMENT OF HEART DEFECTS

2004 ◽  
Vol 15 (4) ◽  
pp. 327-341 ◽  
Author(s):  
LINDSEY ALLAN
Keyword(s):  
Heart Disease ◽  
Real Time ◽  
Fetal Heart ◽  
Heart Defects ◽  
Fetal Life ◽  
Two Dimensional Image ◽  
Non Invasive ◽  
Cardiac Evaluation ◽  
The 1960S ◽  
Cardiac Diagnosis

Ultrasound has been used in cardiac diagnosis since the 1960s. The original modality used was M-mode, which recorded the movement of heart structures relative to a single line of sound passed through the heart and was displayed as a paper tracing. During the 1970s, a two-dimensional image became possible, but it was a static image, which had limited value for cardiac evaluation. However, by the end of the 1970s, advances in ultrasound equipment allowed the heart to be displayed in real-time. This technology was applied initially in the adult and subsequently in the child. Echocardiography proved particularly suitable for children, partly because it is non-invasive and repeatable, but also because most heart disease in children is due to malformation of anatomical structure, which ultrasound can ideally display. At the same time, obstetric ultrasound was progressing rapidly and descriptions of the appearances of malformations in most fetal systems began to be published by the end of the 1970s. It was not until real-time equipment became generally available in obstetrics that the fetal heart could be satisfactorily evaluated. This led to descriptions by several authors of normal fetal cardiac anatomy as seen echocardiographically in 1980. The appearances of the echocardiogram in different forms of congenital heart disease (CHD) in children were published in the late 1970's, setting the stage for diagnosis in fetal life. As a result, by the mid-1980's, most major forms of CHD had been detected prenatally.

Ultrasound in paediatric cardiology — state of the art

2011 ◽  
Author(s):  
Luc L. Mertens
Keyword(s):  
Heart Disease ◽  
Cardiac Catheterization ◽  
Clinical Skills ◽  
Diagnostic Technique ◽  
Paediatric Cardiology ◽  
Non Invasive ◽  
Doppler Data ◽  
Echocardiographic Examination ◽  
Cardiac Evaluation ◽  
Ultrasound Technology

The development of ultrasound technology to visualize cardiac structures, based on the pioneering work by Edler and Hertz at the University of Lund in Sweden, has literally created a revolution in the field of paediatric cardiology. Before the era of cardiac catheterization and echocardiography the diagnosis of congenital heart disease was mainly based on combining physical findings, cardiac auscultation, electrocardiogram (ECG), and chest X-ray. This was largely based on the work by Helen B. Taussig at John Hopkins in the 1930s who established the field of clinical paediatric cardiology by integrating pathology knowledge with clinical findings. Diagnosis at that time was based on clinical skills and was more an art than science. The introduction of paediatric cardiac surgery in the 1950s was made possible due to the simultaneous development of cardiac catheterization and angiography which allowed an accurate description of the different cardiac lesions and the associated haemodynamics prior to surgery. For a long period catheterization was the diagnostic gold standard and all surgical patients underwent an invasive cardiac evaluation. In the 1970s, echocardiography was developed as a clinical tool and due to its non-invasive nature, was introduced quickly in paediatric cardiology. As anatomical diagnosis is challenging by M-mode echocardiography, it was really the development of two-dimensional (2-D) echocardiography in the late 1970s and early 1980s that deeply influenced the field. For the first time the congenital defects could be imaged noninvasively and the 2-D images were extensively validated by comparing them with pathological and surgical findings. Adding pulsed, continuous, and colour Doppler data to the 2-D images resulted in a complete detailed description of congenital cardiac defects and their haemodynamic consequences. Further optimization of ultrasound technology specifically for paediatric imaging, such as the development of higher-frequency probes and increasing the standard grey-scale frame rates, further improved spatial and temporal resolution and overall image quality. Based on its excellent diagnostic accuracy and its non-invasive nature, echocardiography quickly became the primary non-invasive diagnostic technique for all children with heart disease. Currently every paediatric patient with suspected heart disease will undergo an echocardiographic examination as the first (and often only) diagnostic test.

scholarly journals Non-Invasive Placental Perfusion Imaging in Pregnancies Complicated by Fetal Heart Disease Using Velocity-Selective Arterial Spin Labeled MRI

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Zungho Zun ◽  
Greg Zaharchuk ◽  
Nickie N. Andescavage ◽  
Mary T. Donofrio ◽  
Catherine Limperopoulos
Keyword(s):  
Heart Disease ◽  
Perfusion Imaging ◽  
Fetal Heart ◽  
Placental Perfusion ◽  
Non Invasive

scholarly journals Virtual autopsy and confirmation of normal fetal heart anatomy in the first trimester using three-dimensional (3D) reconstruction of histological sections

2021 ◽  
Author(s):  
Dan Ruican ◽  
Ana-Maria Petrescu ◽  
Anda Ungureanu ◽  
Daniel Pirici ◽  
Marius Cristian Marinaș ◽  
...  
Keyword(s):  
3D Reconstruction ◽  
Fetal Heart ◽  
Heart Defects ◽  
Three Dimensional ◽  
First Trimester ◽  
Non Invasive ◽  
Histological Sections ◽  
Virtual Reconstruction ◽  
Conventional Autopsy ◽  
Accuracy Data

Abstract Objective: In this pilot study we tested the feasibility of cardiac structures reconstruction from histologic sections in 12-13 weeks normal fetuses. Conventional autopsy is hampered at this gestational age because of the small size of the heart anatomical structures, while alternative non-invasive methods for pathology examination of the fetus are expensive, rarely available and lack accuracy data regarding the confirmation of first trimester heart defects.Method: Normal hearts from fetuses aged 12-13 gestational weeks were removed for histological preparation, virtual reconstruction and cardiac structures analysis. All sections have been scanned and a three-dimensional (3D) reconstruction of the whole organ has been rendered. Results: 5 cases were investigated. Visualization of the normal heart cavities, including atrio-ventricular septum was very good in all fetuses. The entire course of right and left ventricle outflow tracts was confidently confirmed, along the and branching pattern of aorta and pulmonary artery trunk.Conclusion: The use of 3D reconstruction of fetal heart histological sections in first trimester may serve as an important audit to confirm the normalcy of heart structures. The histological and post processed information is retained, and this volume can be stored, reanalyzed or sent online for a second opinion.

Biophysical assessment of placental and membrane dysfunction

1991 ◽  
Vol 3 (4) ◽  
pp. 483 ◽  
Author(s):  
WB Giles
Keyword(s):  
Fetal Heart ◽  
Controlled Trial ◽  
Placental Lactogen ◽  
Heart Rate Monitoring ◽  
Fetal Heart Rate Monitoring ◽  
Non Invasive ◽  
Randomized Controlled ◽  
Biochemical Studies ◽  
1960S And 1970S ◽  
The 1960S

During the 1960s and 1970s, the fetoplacental unit was assessed by means of biochemical studies in the form of oestriol and human placental lactogen assays. With the advent of both real-time ultrasound and fetal heart rate monitoring, the accent on fetal assessment has changed. More recently (the late 1980s) the use of Doppler ultrasound has expanded the non-invasive assessment of the fetoplacental unit. This review discusses these modalities along with reports of randomized controlled trial assessments of these modalities.

scholarly journals A novel system to collect dual pulse oximetry data for critical congenital heart disease screening research

2020 ◽  
pp. 1-7
Author(s):  
Kavish Doshi ◽  
Gregory B. Rehm ◽  
Pranjali Vadlaputi ◽  
Zhengfeng Lai ◽  
Satyan Lakshminrusimha ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Oxygen Saturation ◽  
Real Time ◽  
Congenital Heart ◽  
Waveform Analysis ◽  
Care Providers ◽  
Time Data ◽  
Critical Congenital Heart Disease ◽  
Non Invasive

Abstract Introduction: Access to patient medical data is critical to building a real-time data analytic pipeline for improving care providers’ ability to detect, diagnose, and prognosticate diseases. Critical congenital heart disease (CCHD) is a common group of neonatal life-threatening defects that must be promptly diagnosed to minimize morbidity and mortality. CCHD can be diagnosed both prenatally and postnatally. However, despite current screening practices involving oxygen saturation analysis, timely diagnosis is missed in approximately 900 infants with CCHD annually in the USA and can benefit from increased data processing capabilities. Adding non-invasive perfusion measurements to oxygen saturation data can improve the timeliness and fidelity of CCHD diagnostics. However, real-time monitoring and interpretation of non-invasive perfusion data are currently limited. Methods: To address this challenge, we created a hardware and software architecture utilizing a Pi-top™ for collecting, visualizing, and storing dual oxygen saturation, perfusion indices, and photoplethysmography data. Data aggregation in our system is automated and all data files are coded with unique study identifiers to facilitate research purposes. Results: Using this system, we have collected data from 190 neonates, 130 presumably without and 60 with congenital heart disease, in total comprising 1665 min of information. From these data, we are able to extract non-invasive perfusion features such as perfusion index, radiofemoral delay, and slope of systolic rise or diastolic fall. Conclusion: This data collection and waveform analysis is relatively inexpensive and can be used to enhance future CCHD screening algorithms.

scholarly journals Objective Assessment of Counselling for Fetal Heart Defects: An Interdisciplinary Multicenter Study

2020 ◽  
Vol 9 (2) ◽  
pp. 467
Author(s):  
Alexander Kovacevic ◽  
Stefan Bär ◽  
Sebastian Starystach ◽  
Andreas Simmelbauer ◽  
Michael Elsässer ◽  
...  
Keyword(s):  
Heart Disease ◽  
Treatment Process ◽  
Fetal Heart ◽  
Language Skills ◽  
Heart Defects ◽  
Objective Assessment ◽  
Medical Knowledge ◽  
Online Information ◽  
Validated Questionnaire ◽  
Structured Approach

The objective of this study was to analyze parental counselling for fetal heart disease in an interdisciplinary and multicenter setting using a validated questionnaire covering medical, sociodemographic, and psychological aspects. n = 168 individuals were recruited from two pediatric heart centers and two obstetrics units. Overall, counselling was combined successful and satisfying in >99%; only 0.7% of parents were dissatisfied. “Perceived situational control” was impaired in 22.6%. Adequate duration of counselling leads to more overall counselling success (r = 0.368 ***), as well as providing written or online information (57.7% vs. 41.5%), which is also correlated to more “Transfer of Medical Knowledge” (r = 0.261 ***). Interruptions of consultation are negatively correlated to overall counselling success (r = −0.247 **) and to “Transparency regarding the Treatment Process” (r = −0.227 **). Lacking a separate counselling room is associated with lower counselling success for “Transfer of Medical Knowledge” (r = 0.210 ***). High-risk congenital heart disease (CHD) is correlated to lower counselling success (42.7% vs. 71.4% in low-risk CHD). A lack of parental language skills leads to less overall counselling success. There is a trend towards more counselling success for “Transfer of Medical Knowledge” after being counselled solely by cardiologists in one center (r = 0.208). Our results indicate that a structured approach may lead to more counselling success in selected dimensions. For complex cardiac malformations, counselling by cardiologists is essential. Parental “Perceived Situational Control” is often impaired, highlighting the need for further support throughout the pregnancy.

GENETICS OF CARDIAC MALFORMATIONS

2008 ◽  
Vol 19 (2) ◽  
pp. 105-118
Author(s):  
SHA TANG ◽  
TAOSHENG HUANG
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Fetal Life ◽  
Genetic Syndromes ◽  
Cardiac Defects ◽  
Psychological Burden ◽  
Congenital Cardiac Defects ◽  
Child Healthcare

ABSTRACTCongenital heart disease is one of the most common major malformations in humans, contributing substantially to the financial and psychological burden of child healthcare. About one percent of children are born with heart defects, and every year, more children die from congenital heart disease than are diagnosed with cancer. A diagnosis of congenital heart disease is frightening for parents, particularly when it affects a fragile newborn. The heart is the first organ to be matured in a human fetus and if a particular congenital heart defect is compatible with fetal life, the child will be born with a defective heart. More than 300 genetic syndromes are associated with congenital cardiac defects. In this review, we will discuss the genetics of congenital heart disease, how to carry out a diagnosis of the genetic causes and how to provide counseling for families with congenital heart disease.

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