Updated guidance highlights best practices for fetal echocardiography
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Key takeaways:
- Updated guidance highlights best practices for fetal echocardiography to diagnose congenital heart disease.
- Collaboration should include genetic counseling, mental health and social worker support.
Congenital heart defects are the most common type of birth defect, affecting nearly 1% of births per year in the United States, according to the CDC.
About one in four infants with a congenital heart disease has a critical defect requiring surgery or other procedures during the first year of life.
“It is important that you use the screening tools to detect the most serious heart defects,” Shubhika Srivastava, MD, pediatric and fetal cardiologist and chief of cardiology at Nemours Children’s Hospital, Delaware, and co-director of the Nemours Children’s Cardiac Center, told Healio. “We know that prenatal detection of a congenital heart defect has a positive impact on postnatal outcomes. Surgical results have excellent survival rates which are better if there is appropriate management of the mother and fetus during pregnancy and after delivery. The goal is for the child to grow up and live and active and fulfilling life and achieve their potential.”
The American Society of Echocardiography in May released updated guidelines and recommendations for fetal echocardiography. The Fetal Heart Society, the Society of Pediatric Echocardiography and the American Institute of Ultrasound in Medicine endorsed the document, which was published in the Journal of the American Society for Echocardiography.
Healio spoke with Srivastava, a co-author of the document, about how fetal echocardiography and fetal cardiology has evolved, who should be referred for fetal echocardiography and why, and the need for multidisciplinary collaboration when dealing with a genetic heart condition.
Healio: Why was there a need for updated guidance for fetal echocardiography?
Srivastava: The American Society of Echocardiography published its initial fetal echocardiography guidelines and standards in 2004. Since then, multiple iterations have been published by different professional organizations and societies, including the American Heart Association and the International Society of Ultrasound in Obstetrics and Gynecology, to reflect new data and the evolution of multidisciplinary involvement in the care of patients and fetuses diagnosed with congenital heart disease. The Fetal Heart Society felt updated guidance could increase the sensitivity of fetal diagnosis of congenital heart disease, optimize the indications and imaging protocols and management recommendations. It is important to improve the sensitivity of any test for prenatal detection. This can be done by optimizing access to the high-risk population and by disseminating guidelines and protocols that can optimize imaging to guide detection.
Healio: What are some of the key updates in this new revised guidance?
Srivastava: The new guidelines are very focused on making sure we look at every indication for which a fetal echocardiogram should be provided, so that the sensitivity and specificity of diagnosis increases. The authors looked at the published works and current practices to better define the population at risk for fetuses with congenital heart disease, and then modified the guidance where a fetal echocardiogram should be included and used to make a diagnosis.
Fetal echocardiography is such a resource-intense tool and it is reliant on specialized expertise. We want to make sure that the highest risk population has access to fetal echocardiography. Certain indications have been revised. For example, in the past, having assisted reproductive therapy or in vitro fertilization was an absolute indication for a fetal echo. Now it is a relative indication. Certain other indications have moved from “must-have” to “may be considered.”
Standard views and guidelines were also modified from using standard 2D views to the inclusion of color Doppler, spectral Doppler and 2D measurements and biometrics, again to increase the sensitivity of detection on congenital heart defects. With the current guidelines and appropriate techniques, education and competence of the person performing a fetal echocardiogram, the sensitivity of detecting a critical congenital heart defect can be more than 90% for the population referred for a fetal echocardiography test and fetal cardiography consultation.
Healio: Can you explain the difference between a fetal echocardiogram and a screening echo?
Srivastava: There are standards and guidelines for when, during pregnancy, a person receives an anatomy scan that includes a cardiac screening ultrasound at the high-risk obstetrician’s office. The anatomy scan includes scanning of all structures for abnormalities, which includes the heart, using at least five view of the heart. Cardiac screening ultrasound as part of the anatomy scan has evolved during the past 20 years. In the late 1990s and early 2000s, there was a four-chamber view, which could not detect some of the most serious congenital heart defects. The prenatal detection was less than 30% for the most severe heart defects. Now, if you use the cardiac ultrasound screening guidelines (ISUOG 2023) with at least five views of the heart, which improves sensitivity of the detection to more than 50%. When fetal echocardiography is then done by special experts, the sensitivity goes up to about 90%. The second trimester fetal echocardiography is offered at 18 to 22 weeks’ gestation. With advanced technology and experience, fetal echocardiography can be utilized for the high-risk parent as early as 12 weeks’ gestation. Nemours offers more than 10 access points for parents to get a fetal echo and has a delivery unit that allows us to lead the effort in increasing prenatal detection and optimizing outcomes.
Healio: This guidance highlights a need for multidisciplinary collaboration. Can you expand on that?
Srivastava: Detection of congenital heart disease and identification and care of the mother starts with the obstetrician and the primary care physician. The knowledge of what defines the person to be at high risk is key, and that comes from the collaboration of obstetricians, high-risk obstetricians, perinatologists, and then fetal cardiologists who work closely with the maternal-fetal medicine physicians and perinatal cardiologists to maximize care before birth and after delivery. Additionally, we must work with psychologists to help the parents deal and cope with this information and empower them with support to make the right decisions for themselves and their child. Genetics is also extremely important in congenital heart disease outcomes and working with a genetic counselor is key.
Sometimes, congenital heart disease does not occur in isolation. It can occur with other birth defects, so you work with other subspecialists. Social worker involvement is very important to help the parents navigate issues with insurance and access to care. Other key members of the team include nursing and feeding therapists, skilled staff and nurses who help coordinate multidisciplinary care for the parents with the care team throughout pregnancy.
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For more information:
Shubhika Srivastava, MD, can be reached at shubhika.srivastava@nemours.org.
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