Objectives: The present study was performed to examine the utility of a new first trimester marker called the "brain angle" (BA) in screening for trisomy 21. We postulate that differences in the midbrain anatomy between euploid fetuses and those that are affected by trisomy 21 are reflected in changes in BA measurements.
Methods: In fetuses at 11-13 weeks of gestations, which were at high risk for trisomy 21, the angle was measured between the line crossing the thalamus and mesencephalon cranial border tangentially and the line crossing the brainstem lower limit. This angle was compared between fetuses with trisomy 21 (based on karyotyping) and those with a normal karyotype.
Results: Trisomy 21 was detected in 45 (8%) of 560 fetuses. Receiver operating characteristic analysis showed that, at BA≥94°, the sensitivity and specificity for determining trisomy 21 were 97.8% (95% CI=88.2-99.9%) and 100% (95% CI=99.2-100%), respectively.
Conclusions: Fetal BA appears to be a promising new first trimester marker in screening for trisomy 21.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1515/jpm-2021-0072 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.
Mol Genet Genomic Med
January 2025
Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Background: Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Materials And Methods: In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection.
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003-2022.
Am J Med Genet A
January 2025
Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Parents of children with Down syndrome have historically reported poor experiences receiving a prenatal diagnosis. In a 2003 survey, mothers reported that their physicians pitied them, emphasized negative aspects of Down syndrome, and encouraged them to terminate the pregnancy. This study assesses whether parents' perceptions have since improved.
View Article and Find Full Text PDFEmbryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study.
Int J Fertil Steril
January 2025
Reproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia.
Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalence and inherent unpredictability, leading to variations in embryo mosaic rates across different centers. This research endeavors to assess the prevalence of mosaicism and its characteristics within the scope of our preimplantation genetic testing-A (PGT-A) services in Indonesia. Specifically focusing on our center's experience since 2020, this study aims to elucidate mosaic rates among embryos in our care.
View Article and Find Full Text PDFNeurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.
J Dev Behav Pediatr
January 2025
eXtraordinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO.
Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.
Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.
Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21.
Am J Med Genet B Neuropsychiatr Genet
January 2025
Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA.
People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non-mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized. This study aimed to examine the prevalence of self-report and caregiver-report symptoms of depression and anxiety among a sample of 62 participants with mDS aged 12-46 and assess their association with the percentage of trisomy 21 in blood and/or buccal mucosa cells.
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!