Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (< 2%). Findings were concerning for life limiting condition with thoracic circumference < 2.

Automated craniofacial biometry with 3D T2w fetal MRI.

Objectives: Evaluating craniofacial phenotype-genotype correlations prenatally is increasingly important; however, it is subjective and challenging with 3D ultrasound. We developed an automated label propagation pipeline using 3D motion- corrected, slice-to-volume reconstructed (SVR) fetal MRI for craniofacial measurements.

Methods: A literature review and expert consensus identified 31 craniofacial biometrics for fetal MRI.

Mental Health Literacy and Attitudes Towards Mental Health Problems Among College Students, Nepal.

(1) Background: Research on mental health literacy (MHL) and attitudes toward mental health problems (ATMHP) among non-medical college students in Nepal is limited. This study examined the relationship between MHL and ATMHP, considering demographic variables and familiarity with mental health issues; (2) Methods: We conducted a cross-sectional survey with 385 college students from Chitwan and Kathmandu, Nepal, using opportunity sampling. Descriptive and inferential statistics examined demographic differences, while Pearson's correlation assessed relationships among latent variables; (3) Results: No relationship was found between MHL and ATMHP (r = -0.

Co-occurring Psychopathology in Children With and Without Autism Spectrum Disorder (ASD): Differences by Sex in the ECHO Cohorts.

Purpose: Our goals were to: 1) examine the occurrence of behavioral and emotional symptoms in children on the autism spectrum in a large national sample, stratifying by sex, and 2) evaluate whether children with increased autism-related social communication deficits also experience more behavioral and emotional problems.

Methods:  Participants (n = 7,998) were from 37 cohorts from the Environmental influences on Child Health Outcomes (ECHO) Program. Cross-sectional information on demographic factors, parent-report of an ASD diagnosis by clinician, Social Responsiveness Scale (SRS) scores, and Child Behavior Checklist (CBCL) scores were obtained for children aged 2.

Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.

Objective: To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child.

Methods: A single-center retrospective chart review was conducted on 397 anomalous fetuses that underwent ES from May 2012 through December 2023. Medical record review included demographics, imaging, and genetic testing.