AI Article Synopsis
- The study aimed to analyze the pons anteroposterior diameter (APD) and cerebellar vermis craniocaudal diameter (CCD) in fetuses with Down syndrome (DS) compared to typical measurements in low-risk pregnancies.
- A total of 218 pregnancies were included, with findings indicating that 38.8% of the fetuses with DS showed measurements below the 5th percentile for gestational age, suggesting potential abnormalities.
- These results highlight the possibility of identifying fetal brain abnormalities in DS prenatally, which could aid in counseling and monitoring of affected pregnancies.
Article Abstract
Objectives: To investigate the pons anteroposterior diameter (APD) and cerebellar vermis craniocaudal diameter (CCD) of fetuses with Down syndrome (DS).
Methods: This was a prospective observational study including 200 low-risk pregnancies and 18 pregnancies with fetuses who had DS. A midsagittal view was obtained to measure the pons APD and cerebellar vermis CCD. Gestational age-related 5th, mean, and 95th percentiles for the pons APD and cerebellar vermis CCD between 18 and 32 weeks' gestation were created from the low-risk population. Each measurement of a fetus with DS was plotted on growth charts, and those below the 5th percentile for gestational age were considered small.
Results: The pons APD and cerebellar vermis CCD measurements were below the 5th percentile for gestational age in 7 of the 18 (38.8%) fetuses with DS. Fetuses who had pons APDs below the 5th percentile for gestational age also had cerebellar vermis CCDs below the 5th percentile. Fetuses who had pons and cerebellar vermis measurements below the 5th percentile for gestational age on the initial examination continued to have small measurements during follow-up.
Conclusions: Fetal pons and cerebellar vermis abnormalities could be observed prenatally in fetuses with DS, which could help in the antenatal counseling and postnatal follow-up of such pregnancies.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/jum.15382 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical Manifestations.
Alzheimers Dement
December 2024
University of California San Francisco, San Francisco, CA, USA.
Background: Despite the prevalent belief that socioemotional processing remains mostly intact in the early stages of Alzheimer's disease (AD), impaired Theory of Mind - the ability to understand and interpret others' thoughts, beliefs, and feelings - has been observed in persons with AD. During everyday conversations, the high cognitive loading of socioemotional interactions may adversely impact the ability of persons with AD to identify emotions and read others' intentions. This study aimed to investigate socioemotional perception capabilities in early-stage AD and to determine whether cerebellar and cerebral integrity predicts performance on socioemotional perception tests.
View Article and Find Full Text PDFAbnormalities in cerebellar subregions' volume and cerebellocerebral structural covariance in autism spectrum disorder.
Autism Res
January 2025
Department of Anatomy and Neurobiology, Research Center for Sectional and Imaging Anatomy, Shandong Provincial Key Laboratory of Mental Disorder, Shandong Key Laboratory of Digital Human and Clinical Anatomy, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
The cerebellum plays a crucial role in functions, including sensory-motor coordination, cognition, and emotional processing. Compared to the neocortex, the human cerebellum exhibits a protracted developmental trajectory. This delayed developmental timeline may lead to increased sensitivity of the cerebellum to external influences, potentially extending the vulnerability period for neurological disorders.
View Article and Find Full Text PDFSelective deletion of from mouse cerebellar Purkinje neurons drives sex-specific behavioral impairments linked to autism.
Front Behav Neurosci
December 2024
Department of Biology, Miami University, Oxford, OH, United States.
There is a striking sex bias in the prevalence and severity of autism spectrum disorder (ASD) with 80% of diagnoses occurring in males. Because the molecular etiology of ASD is likely combinatorial, including interactions across multiple genetic and environmental factors, it is difficult to investigate the physiological mechanisms driving sex-specific differences. Loss of function mutations in result in dysregulated mTORC1 signaling and underlie a multi-system disorder known as tuberous sclerosis (TSC).
View Article and Find Full Text PDFUncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.
BMC Pregnancy Childbirth
December 2024
Department of Obstetrics, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can significantly complicate prenatal diagnosis and genetic counseling.
Case Presentation: A fetus conceived through in vitro fertilization at the third attempt presented with polydactyly and molar tooth sign at 24 + 6 weeks of gestation.
Uneven Distribution of Purkinje Cell Injury in the Cerebellar Vermis of Term Neonates with Hypoxic-Ischemic Encephalopathy.
Cerebellum
December 2024
Department of Neonatology, UMC Utrecht Brain Center, University Utrecht, Wilhelmina Children's Hospital, Utrecht, the Netherlands.
In term neonates with hypoxic-ischemic encephalopathy (HIE), cerebellar injury is becoming more and more acknowledged. Animal studies demonstrated that Purkinje cells (PCs) are especially vulnerable for hypoxic-ischemic injury. In neonates, however, the extent and pattern of PC injury has not been investigated.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!