Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders

Abstract

A considerable number of central nervous system pathologies remain undiagnosed during the first two trimesters of pregnancy. This group of disorders includes anomalies of brain proliferation, migration and cortical organization. Due to the fact that a detailed ultrasound examination of the fetal brain is usually not performed during the third trimester the diagnosis of these disorders is usually only made in families with a previously affected child or in many cases be mere chance. In this article we review the feasibility of prenatal diagnosis of disorders of brain proliferation: microcephaly, macrocephaly, hemimegalencephaly and neoplastic and non-neoplastic abnormal cell types. We discuss the differential diagnosis and offer a stepwise approach to the diagnosis of the more common disorders.

Histological characterization and development of mesial surface sulci in the human brain at 13–15 gestational weeks through high‐resolution histology

“…Alternatively, some of these primordial sulci may be of a transitive nature. The developmental trajectory of sulci, as well as that of the CC, may serve as important benchmarks for the early diagnosis (12–17 GW) of neurodevelopmental disorders (Malinger et al., 2003; Sun & Hevner, 2014; Li et al., 2019).…”

“…While the development of sulci on the dorsal cortical surface has been studied extensively, the formation of sulci on the mesial surface in humans is less well understood. It is important to characterize and quantify the development of these mesial sulci, such as the callosal, marginal, calcarine and cingulate sulci, because they may be used as diagnostic criteria among certain neurodevelopmental disorders (Malinger et al, 2003;Hetts et al, 2006;Vasung et al, 2019).…”

“…While the development of sulci on the dorsal cortical surface has been studied extensively, the formation of sulci on the mesial surface in humans is less well understood. It is important to characterize and quantify the development of these mesial sulci, such as the callosal, marginal, calcarine and cingulate sulci, because they may be used as diagnostic criteria among certain neurodevelopmental disorders (Malinger et al., 2003; Hetts et al., 2006; Vasung et al., 2019). In addition to the lack of data in this regard, there are discrepancies in the chronological timelines for the development of the known dorsal surface and mesial surface sulci, depending on the methodology used, whether in utero and ex vivo MRI (1.5, 3, 7 T) or classical macro‐ and microscopic examinations (Chi et al., 1977; Hansen et al., 1993; Huang et al., 2009; Zhang et al., 2013).…”

Pattern and distribution of prenatally diagnosed congenital anomalies among high risk pregnant women in Ibadan, south western Nigeria

“…The cause of CA is multifactorial in 25% of fetuses affected, environmental pollution and exposure to ionizing radiation are also implicated while the cause is still unknown in 60%4 of cases [ 3 - 5 ]. The introduction of ultrasound for prenatal detection of CA over 5 decades ago, has seen remarkable advancement in technology and now remains an invaluable screening and diagnostic tool for congenital disorders [ 6 , 7 ].…”

Zika virus challenges for neuropsychiatry

“…Microcephaly is a neurological syndrome that can be associated with other malformations and is closely related to the development of the central nervous system (CNS). 32 Its definition and clinical relevance vary among authors. 33 – 35 For instance, cutoff points of head circumference measures ≤2 or 3 standard deviation (SD) (from the mean expected values for age and sex) have been adopted.…”