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

Prenat Diagn. 2021 Aug;41(9):1134-1139. doi: 10.1002/pd.6012. Epub 2021 Jul 22.

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.

MeSH terms

  • Adult
  • Congenital Abnormalities / diagnosis*
  • Congenital Abnormalities / diagnostic imaging
  • Echocardiography / methods*
  • Echocardiography / trends
  • Female
  • Fetus / diagnostic imaging*
  • Gestational Age
  • Humans
  • Noninvasive Prenatal Testing / instrumentation
  • Noninvasive Prenatal Testing / methods
  • Noninvasive Prenatal Testing / trends
  • Pregnancy
  • Retrospective Studies