First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies

Abstract

Objective: To evaluate the potential of the first-trimester ultrasound (US) features for the detection of central nervous system (CNS) anomalies. Methods/Methodology: This is a prospective one-center three-year study. Unselected singleton pregnant women were examined using an extended first-trimester anomaly scan (FTAS) that included the CNS assessment: the calvaria shape, the septum (falx cerebri), the aspect of the lateral ventricles, the presence of the third ventricle and aqueduct of Sylvius (AS) and the posterior brain morphometry: the fourth ventricle, namely intracranial translucency (IT), brain stem/brain stem–occipital bone ratio (BS/BSOB) and cisterna magna (CM). The spine and underlying skin were also evaluated. The cases were also followed during the second and third trimesters of pregnancy and at delivery. FTAS efficiency to detect major CNS abnormalities was calculated. Results: We detected 17 cases with CNS major abnormalities in a population of 1943 first-trimester (FT) fetuses, including spina bifida with myelomeningocele, exencephaly-anencephaly, holoprosencephaly, hydrocephaly, cephalocele and Dandy-Walker malformation. The CNS features in the abnormal group are presented. In the second trimester (ST), we further diagnosed cases of corpus callosum agenesis, cerebellar hypoplasia, vein of Galen aneurysm and fetal infection features (ventriculomegaly, intraventricular bands, intraventricular cyst and hyperechoic foci), all declared normal at the FTAS. During the third trimester (TT) scan we identified a massive fetal cerebral haemorrhage absent at previous investigations. We report a detection rate of 72.7% of fetal brain anomalies in the FT using the proposed CNS parameters. The sensitivity of the examination protocol was 72.7%, and the specificity was 100%. Conclusion: A detailed FT CNS scan is feasible and efficient. The majority of cases of major CNS abnormalities can be detected early in pregnancy. The visualization rates of the CNS parameters in the FT are great with short, if any, additional investigation time. FT cerebral disorders such as haemorrhage or infections were missed in the FT even when an extended evaluation protocol was used.

Live-Birth Incidence of Isolated D-Transposition of Great Arteries—The Shift in Trends Due to Early Diagnosis

“…Thus, counseling will be incomplete or incorrect at the end of the FT. In other highly evolving fetal systems, counselling following the FTAS will also remain suboptimal [ 49 , 81 ].…”

The science of uncertainty guides fetal-neonatal neurology principles and practice: diagnostic-prognostic opportunities and challenges

“…Diagnostic limitations based on current MRI technology were explained to mother that could not eliminate possible anomalous brain development below the resolution of fetal brain MRI images ( 5 ). Diagnostic accuracy using 4D sonography with present day improved brain MRI Tesla resolution now more often offers more definitive structural descriptions for more accurate interpretations ( 6 ). Pregnancy termination consequently was not advised.…”

“…Pregnancy termination consequently was not advised. A more favorable outcome including possible normal neurodevelopment was suggested, assuming no further pregnancy complications ( 6 ).…”

First‐trimester ventriculomegaly in fetuses with callosal agenesis: Cause or association?

“…Both normal and abnormal sonographic features obtained by transabdominal and transvaginal ultrasound have been extensively described in the literature 1 . In recent years, there has been an increasing interest in the early diagnosis of structural anomalies, particularly those involving the central nervous system (CNS) 2–4 . This has led to important advances in defining the normal and abnormal sonographic features of the early fetal brain 5,6 …”

“…1 In recent years, there has been an increasing interest in the early diagnosis of structural anomalies, particularly those involving the central nervous system (CNS). [2][3][4] This has led to important advances in defining the normal and abnormal sonographic features of the early fetal brain. 5,6 One of the conditions that can be potentially detected at this early gestational age is fetal ventriculomegaly.…”