Maternal Fetal Medicine Center offers screening fetal echocardiography
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Maternal Fetal Medicine Center offers screening fetal echocardiography

Congenital heart disease is a leading cause of infant morbidity and mortality from birth defects, with an estimated incidence of 6 per 1,000 live births for moderate to severe forms (J Ultrasound Med 2020;39[1]:E5-E16).

Women at risk for having a baby with a congenital heart disease can receive screening fetal echocardiography at the Maternal and Fetal Medicine Center at Englewood Health, which can be done during the same visit as their routine anatomy ultrasound screening.

“The nice thing about having a screening fetal echo here is you can get everything in one place,” said Andrei Rebarber, MD, co-director of Englewood Health’s Division of Maternal-Fetal Medicine. “You can get the anatomy screening and the screening fetal echocardiography. The same ultrasound machine is used, but the sonographer has a higher-level certification for fetal echocardiography, and they acquire images that are focused on the heart.”

“A typical anatomy ultrasound takes 45 minutes, and 5 to 10 of it is spent on the heart,” said Nathan Fox, MD, co-director of the Maternal-Fetal Medicine Center at Englewood Health. “A screening echocardiography takes 45 minutes, and the whole time is spent on the heart, so we can focus on every chamber, every valve, every angle.”

Indications for fetal echocardiography are based on both fetal and maternal risk factors for congenital heart disease. If a fetal scan during an anatomic ultrasound examination shows evidence of an abnormal heart, then fetal echocardiography may be indicated, depending on the interpretation of risks and concomitant conditions (J Ultrasound Med. 2020;39[1]:E5-E16).

There are several indications for screening fetal echocardiography (Pediatr Cardiol 2004;25[3]:210-222). These include: pregestational diabetes; gestational diabetes diagnosed in the first or early second trimester; in vitro fertilization; phenylketonuria; autoimmune disease with anti-Sjögren’s syndrome– related antigen A antibodies and with a prior affected fetus; a first-degree relative of a fetus with chronic heart disease; a first- or second-degree relative with disease of Mendelian inheritance and a history of childhood cardiac manifestations; retinoid exposure; or first-trimester rubella infection.

Fetal echocardiography may be considered if there is selected teratogen exposure, such as with paroxetine, carbamazepine, or lithium; antihypertensive medication limited to angiotensin-converting enzyme inhibitors; autoimmune disease with Sjögren’s syndrome–related antigen A positivity and without a prior affected fetus; and a second degree relative of a fetus with congestive heart disease.

Fetal factors indicating screening fetal echocardiography include: a suspected cardiac structural anomaly; suspected abnormality in cardiac function; hydrops fetalis; persistent fetal tachycardia or bradycardia; suspected heart block; frequent episodes of or a persistently

irregular cardiac rhythm; major fetal extracardiac anomaly; nuchal translucency of 3.5 mm or greater or at or above the 99th percentile for gestational age; chromosomal abnormality; or monochorionic twinning. Fetal echocardiography also may be considered for other factors, such as a systemic venous anomaly, or if an abnormality is suspected in cases of maternal obesity, maternal use of a selective serotonin reuptake inhibitor antidepressant other than paroxetine, and alcohol or warfarin exposure. Fetal echocardiography allows for the diagnosis of certain complex heart defects, including transposition of the great arteries, ventricular septal defects, and venous malformations.

“What is relevant is that if you do diagnose one of these conditions, it is important to know about it because it affects where you should deliver the baby,” Dr. Rebarber said. “Perhaps the baby will need surgery right after birth and they will need to be referred to a place that offers pediatric cardiothoracic open-heart surgery, a place that offers a higher level of nursery care, or a place that offers extracorporeal membrane oxygenation.”

Said Dr. Fox, “There are many creative surgeries that can fix malformations, and there are a lot of things that can be done to ameliorate and improve survival and outcomes.”

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