The role of fetal echocardiogram after detection of extracardiac anomalies in utero (fetal echocardiogram for extracardiac malformations)

Abstract

Objective We aimed to investigate the utility of comprehensive screening fetal echocardiography (FE) for patients diagnosed with any type of fetal extracardiac malformation (ECM) at a single multidisciplinary fetal center. Methods We retrospectively reviewed all patients presenting to our referral center for FE due to a prenatal diagnosis of ECM (January 2013–December 2018). Results Among 641 patients with ≥1 ECM referred for FE, 78 (12.2%) had CHD diagnosed at 25.6 ± 0.5 weeks. The frequency of CHD by type of ECM ranged from 35.1% for craniofacial to 9.8% for thoracic. Increasing number of fetal ECMs was strongly associated with CHD: odds ratio 2.01 (95% confidence interval: 1.06–3.69) for two ECMs, 9.57 (2.00–49.05) for three ECMs, and 11.68 (3.84–37.15) for more than three ECMs. Of fetuses with ECM and an abnormal genetic finding, 33.3% had CHD as compared to 10.9% of those without (p < 0.0001). Obstetric anatomy sonogram detected 43.6% of CHD. Conclusion CHD was commonly diagnosed among fetuses with any type of ECM at our center but was not always detected on obstetric sonogram. As the presence of CHD may impact decision‐making and perinatal care, patients with a diagnosis of any fetal ECM should be considered for FE.

Cardiac problems in the fetus: a review for pediatric providers

“…If a fetal echocardiogram is normal in a fetus with a first-degree relative with left-sided heart disease, a postnatal echocardiogram is still recommended to rule out a bicuspid aortic valve [37,39]. Fetal arrhythmia, extracardiac or chromosomal abnormalities [40][41][42][43], monochorionic twinning, and a suspected abnormality on obstetric ultrasound are all indications for fetal echocardiographic screening. A fetal echocardiogram can determine the mechanism of an arrhythmia, indications for treatment, and evaluate for associated CHD [19,44].…”

“…Fetal arrhythmia, extracardiac or chromosomal abnormalities [40–43], monochorionic twinning, and a suspected abnormality on obstetric ultrasound are all indications for fetal echocardiographic screening. A fetal echocardiogram can determine the mechanism of an arrhythmia, indications for treatment, and evaluate for associated CHD [19,44].…”

Fetal cardiac screening: 1st trimester and beyond

“…Overall, 12%-45% of fetuses with CHD have another anomaly and/or an underlying genetic abnormality. [3][4][5][6] Prenatal diagnosis of CHD is important for counseling expectant parents about the anticipated course and short-and long-term outcomes for their child. Further diagnostic genetic testing with chorionic villous sampling or amniocentesis, depending on gestational age, is typically recommended.…”

“…The presence of extracardiac anomalies and/or genetic abnormalities leads to poorer outcomes. Overall, 12%–45% of fetuses with CHD have another anomaly and/or an underlying genetic abnormality 3–6 …”