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Emergency Ultrasound Diagnosis of Fetal Anencephaly

John W. Hall IV, BA; Nicolas Denne, MD; Joseph J. Minardi, MD; Debra Williams, MS; BJ Balcik, MD

Disclosures

Western J Emerg Med. 2016;17(4):460-463. 

In This Article

Abstract and Introduction

Abstract

Background: Early pregnancy complaints in emergency medicine are common. Emergency physicians (EP) increasingly employ ultrasound (US) in the evaluation of these complaints. As a result, it is likely that rare and important diagnoses will be encountered. We report a case of fetal anencephaly diagnosed by bedside emergency US in a patient presenting with first-trimester vaginal bleeding.

Case Report: A 33-year-old patient at 10 weeks gestation presented with vaginal bleeding. After initial history and physical examination, a bedside US was performed. The EP noted the abnormal appearance of the fetal cranium and anencephaly was suspected. This finding was confirmed by a consultative high-resolution fetal US. Making the diagnosis at the point of care allowed earlier detection and more comprehensive maternal counseling about pregnancy options. This particular patient underwent elective abortion which was able to be performed at an earlier gestation, thus decreasing maternal risk. If this diagnosis would not have been recognized by the EP at the point of care, it may not have been diagnosed until the second trimester, and lower-risk maternal options would not have been available.

Introduction

Vaginal bleeding during pregnancy is a common complaint encountered by emergency physicians (EP) and one that can be anxiety inducing for patients and their families. Approximately 20%–40% of pregnant women will experience some amount of vaginal bleeding during their first 20 weeks.[1] Approximately 1.6% of all emergency department visits can be attributed to vaginal bleeding during early pregnancy. Most commonly, vaginal bleeding during early pregnancy can be attributed to ectopic pregnancy, threatened/complete/incomplete abortion, physiologic implantation of the pregnancy, or some uterine/cervical structural abnormality. EPs have been shown to be capable of accurately determining the presence of an intrauterine pregnancy using ultrasound (US), and ultrasound is commonly employed by EPs.

Early pregnancy complaints are common and can create a diagnostic challenge for the EP. EPs are more commonly using point-of-care ultrasound (POCUS) to evaluate these and a multitude of other complaints. US has been shown to detect common etiologies of first-trimester bleeding;[3] however, there are some uncommon and important diagnoses that, if recognized early, may have important implications in patient care. With the increasing use of US by EPs, it is likely these uncommon but important diagnoses will be encountered.[4] We present a case of one of these uncommon anomalies, fetal anencephaly, in which POCUS led to earlier detection, less invasive management, and improved patient care.

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