The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages

Abstract

Introduction: Neural tube defects (NTDs) are a group of heterogeneous congenital anomalies of the central nervous system (CNS). Acrania is a non-NTD congenital disorder related to the CNS. It can transform into anencephaly through the acrania-exencephaly-anencephaly sequence (AEAS). In AEAS, the cerebral tissue is not protected and is gradually destroyed due to exposure to the harmful effect of amniotic fluid and mechanical injuries. These lead to exencephaly and then into anencephaly. In contrast to primary anencephaly (NTDs), this type of anencephaly authors suggests calling secondary anencephaly.

Objective: Analysis of the known prenatal ultrasonography (US) signs associated with AEAS. Simultaneously, the authors propose a new sign in the differentiation of acrania from exencephaly and anencephaly, called the "beret" sign.

Methods: It is a two-centre retrospective observational study. As part of the study, 4060 US scans were analyzed.

Results: In 10 cases, the absence of calvarium was diagnosed, allowing recognition of either AEAS stages or primary anencephaly. In 5 cases, cerebral structures were enclosed by an inertial rippled thin membrane, with a smooth outer contour. Between the described membrane and the brain structures, a thin anechoic space corresponding to cerebrospinal fluid was observed. This sign was defined as the "beret" sign. In these cases, acrania was diagnosed. In three cases calvarium was missing. The brain structures had an irregular appearance, did not wave and remained motionless. The outer contour was unequal as if divided into lobes. Amniotic fluid was anechoic. Exencephaly was diagnosed in these cases. In two cases calvarium, brain structures, and meninges were missing. The "frog eyes" sign and slightly echogenic amniotic fluid were visible. In this case, anencephaly was diagnosed.

Conclusions: The "beret" sign seems to be a promising tool in the diagnosis of acrania. Furthermore, echogenicity of amniotic fluid could be useful during differentiation between primary and secondary anencephaly.

Keywords: Acrania; Acrania–exencephaly–anencephaly sequence; Anencephaly; Exencephaly; Neural tube defects; Prenatal diagnosis; “Beret” sign; “Frog-eye” sign; “Mickey mouse” sign.

Fig. 1

The US scans of pregnant women included in the study and described as cases 1–5. In these cases, acrania was diagnosed. Scans a, c, d, e, f—transabdominal probe and b, g, h, i—transvaginal probe. Scans a, b, c, e, g, i—2D and d, f, h—3D rendering. Scans a–h—sagittal cross-section and i—coronal cross-section. Yellow arrows—brain structures covered with rippling thin membrane similar to meninges—the “beret” sign. Blue arrows—orbits. Red arrows—bone edge on the border of calvarium defect

Fig. 2

The US scans of pregnant women included in the study and described as cases 6–8. In these cases, exencephaly was diagnosed. Scans a, c—transvaginal probe and b—transabdominal probe. Scans a–c sagittal cross-section. Yellow arrows—brain structures divided into lobes with uneven external contour. Blue arrows—orbits. Red arrows—bone edge on the border of calvarium defect

Fig. 3

The US scans of pregnant women included in the study and described as case 9–10. In these cases, anencephaly was diagnosed. Scans a–c performed using the transabdominal probe in 2D (a, c) and 3D rendering (b). Scan a, c—coronal cross-section and scan, b—sagittal cross-section. Yellow arrows—degenerated brain structures. Blue arrows—orbits. Red arrows—bone edge on the border of calvarium defect

Fig. 4

Ossification of the fetal calvarium. 12th week of pregnancy (transvaginal probe). Cross-sections: coronal (a), axial (b), sagittal (c) and in 16th week (transabdominal probe) in the analogue’s cross-sections (d–f). Orange arrows—frontal bones. Green arrows—parietal bones