We report two cases of prenatal detection of lissencephaly by high-resolution ultrasound. The first case studied was referred for high-risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality. Diagnosis of a smooth gyral pattern consistent with lissencephaly was made at 32 weeks' gestation. The second case was referred for prenatal ultrasound because of a size versus dates discrepancy. The ultrasound examination showed a smooth gyral pattern at 31.5 weeks. In light of this ultrasound finding, a fetal blood sample was obtained and a chromosomal abnormality reported, confirming the diagnosis. To our knowledge, these cases represent the first report of the sonographic prenatal diagnosis of cerebral agyria or lissencephaly.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.1970110302 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping.
J Clin Lab Anal
January 2025
Department of Urology, Zhongshan People's Hospital, ZhongShan, China.
Objective: To explore the impact of in vitro cell subculture on prenatal diagnostic sample results and compare the efficacy of conventional karyotyping and chromosomal microarray analysis (CMA) in detecting chromosome mosaicism.
Methods: We conducted a retrospective analysis of G-banding karyotyping and CMA data from 2007 amniocentesis cases to investigate chromosome mosaicism.
Results: Chromosome mosaicism was detected in 1.
``Prenatally diagnosed gastroschisis: A case report''.
Radiol Case Rep
March 2025
Department of Psychiatry, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra 442001, India.
Gastroschisis represents a congenital malformation characterized by the herniation of abdominal contents through a defect in the abdominal wall, predominantly situated to the right of the umbilical cord. The defect is characterized by the absence of a covering membrane, resulting in the free floating of extruded abdominal contents. Major complications associated with this condition include stillbirth, preterm delivery, and intrauterine growth restriction.
View Article and Find Full Text PDFProspective Applications of Artificial Intelligence In Fetal Medicine: A Scoping Review of Recent Updates.
Int J Gen Med
January 2025
Department of Pediatrics, College of Medicine, Arab Gulf University, Al Manama, Bahrain.
Introduction: With the incorporation of artificial intelligence (AI), significant advancements have occurred in the field of fetal medicine, holding the potential to transform prenatal care and diagnostics, promising to revolutionize prenatal care and diagnostics. This scoping review aims to explore the recent updates in the prospective application of AI in fetal medicine, evaluating its current uses, potential benefits, and limitations.
Methods: Compiling literature concerning the utilization of AI in fetal medicine does not appear to modify the subject or provide an exhaustive exploration of electronic databases.
Echo-Biometry Assessment of a Quadruple Pregnancy in a Captive Capybara.
Vet Radiol Ultrasound
January 2025
Department of Surgery, School of Veterinary Medicine and Animal Science, University of São Paulo, Sao Paulo, Brazil.
A 5-year-old female capybara, conditioned ex situ before mating, was monitored by ultrasound to establish prenatal growth and assess fetal echo-biometric variables. The records were taken twice weekly until delivery (i.e.
View Article and Find Full Text PDFVisualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results.
BMC Med Genomics
January 2025
Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, SE-751 85, Sweden.
Background: Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of miscarriage due to invasive procedures. Commercial applications for use at clinical laboratories often take advantage of DNA sequencing technologies and include the bioinformatic workup of the sequence data.
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!