To advance treatment and care for our fetal cardiac patients, our Fetal Cardiology team is actively involved in research, including multi-center studies. A list of ongoing fetal cardiac research studies can be found below.
The National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) is a network of over 60 pediatric cardiology care centers across the United States, Canada and the United Kingdom. The network partners across institutions to design research and Quality Improvement initiatives aimed at decreasing mortality and improving quality of life for infants with single ventricle congenital heart disease and their families. Through a system of leaning networks, each participating institution collects data and implements interventions that are shared throughout the collaborative to improve outcomes for all. The Collaborative is introduced during the initial fetal visit and consent is obtained after delivery. Families participate in the collaborative from birth to the child’s first birthday.
Prenatal diagnosis of truncus arteriosus (TA) was challenging historically, but there is now increasing frequency of in-utero diagnosis. The impact of prenatal diagnosis of TA on perinatal outcomes is not well characterized and published information regarding postnatal outcomes in prenatally diagnosed TA patients remains scarce. The aims of this multi-center, retrospective cohort study are: 1) to report perinatal outcomes of patients prenatally diagnosed with TA, 2) to identify prenatal echocardiographic predictors of perinatal mortality and morbidity in fetuses with prenatal diagnosis of TA and 3) identify postnatal predictors of postnatal mortality and morbidity in fetuses with prenatal diagnosis of TA. Identification of prenatal and postnatal predictors would allow for informative prognostication for families and improved postnatal clinical management planning.
Prenatal counseling in the setting of congenital heart disease (CHD) identified by fetal echocardiography can offer many benefits to patients and clinicians. Despite these benefits, it has been recognized that both referral for fetal echocardiogram and prenatal diagnosis of fetal CHD can cause parental anxiety. There is little data on the clinical significance of isolated ascending aorta dilation (AAD) identified by fetal echocardiography, so prenatal counseling is mainly based on disease association of AAD noted on transthoracic echocardiography in children and adults. This single-center retrospective study aims to describe postnatal outcomes of fetuses with the prenatal finding of AAD at a single center. Describing the postnatal outcomes in fetuses prenatally diagnosed with isolated AAD would allow for informative prenatal counseling, along with the potential of also avoiding unnecessary parental anxiety.
This is a multicenter study involving 21 cardiac surgical centers in the United States and Canada, looking at a contemporary group of fetuses and infants diagnosed with hypoplastic left heart syndrome and transposition of the great arteries. The objective of this study is to determine the association between socioeconomic status and geographic barriers with prenatal detection of these lethal congenital heart defects. The findings of these studies will allow us to improve the screening strategies and detection of CHD that requires neonatal interventions. (The manuscript is currently in the process of being submitted).
It is incredibly difficult to predict prenatally which infants with DTGA will be very sick when they are born. We are enrolling fetuses diagnosed prenatally with D-TGA and an intact ventricular septum to evaluate fetal imaging factors that may predict severity of illness as a neonate in order to determine if we can use specific measurements from the fetal echocardiogram to predict which infants will be very sick when they are born.
Lurie Children's team is a part of this multicenter study being conducted by the Fetal Heart Society. Atrioventricular and ventriculoarterial discordance, also known as congenitally corrected transposition of the great arteries (ccTGA), is a rare, complex form of congenital heart disease. Fetal diagnosis of ccTGA has been increasingly reported. However, fetal counseling is exceedingly difficult given the wide spectrum of reported outcomes ranging from intrauterine fetal demise or neonatal death, to asymptomatic survival into late adulthood.
Analysis of a large cohort of fetuses with a diagnosis of ccTGA with postnatal clinical data and history would allow us to better understand the incidence of associated lesions and the frequency of specific pre or postnatal outcomes. This would greatly improve our ability to counsel families about this rare and varied group of cardiac defects. It would also aid in anticipating patients who will be at the highest risk postnatally and aid in determining appropriate delivery planning. In addition, assessing the prevalence and timing of fetal conduction abnormalities or arrhythmias would help to determine the optimal timing of fetal echocardiograms.
Fetal echocardiography allows in utero detection of congenital heart disease (CHD) for optimal delivery planning with improved postnatal outcomes, yet accurate prenatal diagnosis requires highly skilled professionals who are not universally accessible. Machine learning has high potential to close these diagnostic gaps as has been shown by prior studies that have been able to demonstrate evidence of abnormal fetal cardiac anatomy. With access to large datasets deep learning (DL) methods can be used to extract features of a known lesion and to create a predictive model and test its generalizability. Given that many complex CHD diagnoses are rare, multi-center collaboration is necessary. The aim of this study is to expand on prior work and leverage the Fetal Heart Society network to: 1) create robust training datasets of more CHD lesions 2) apply retrospective computational analysis to previously obtained fetal imaging studies to find disease patterns.
Multicenter (led by Dr. Jill Salva and Dr. J William Gaynor at CHOP)
The role of maternal characteristics in postnatal outcomes is a major knowledge gap in the treatment of congenital heart disease. Identifying these prenatal risk factors is the first step towards developing novel therapeutics to modify them. This is a multi-center study (26 centers) whose aim is advance the understanding of the maternal-fetal environment and its influence on postoperative outcomes in children with congenital heart disease. The objective is to identify prenatal characteristics linked to adverse postnatal outcomes. This study could help to focus treatments on modifiable factors (e.g., maternal blood pressures, glucose levels, or smoking). Our ultimate goal is to improve prenatal counseling, risk stratification, surgical planning, and long-term outcomes in children with congenital heart disease.
Multicenter (led by Dr. Angie Fagerlin and Dr. Nelangi Pinto at Utah, AHA-SFRN funded study)
This multicenter AHA funded study aims to explore factors that are important when families make decisions regarding care for their child’s congenital heart disease. The goal is to create resources and decision-aid tree that will support families in decision making.
This survey project is a multicenter study (4 centers) that aims to understand the attitudes, opinions, and counseling practices of pediatric cardiologist for congenital heart disease. The aim of the study is to identify areas and degrees of consensus/dissention, the strongest factors that guide our individual opinions, and how best to move forward toward standardized counseling and care.