Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.

• Tác giả: Antoni Borrell, Elisenda Eixarch, Valeria Lanzarone
• Ngôn ngữ: eng
• Ký hiệu phân loại: 621.80287 Machine engineering
• Thông tin xuất bản: England : Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine , 2025
• Bộ sưu tập: NCBI
• ID: 689850

Tóm tắt

Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an important part in defining prognosis. Associations with aneuploidy and submicroscopic chromosomal deletions or duplications have been well demonstrated using chromosomal microarray analysis. Next-generation sequencing techniques such as exome sequencing, have revolutionized the ability to detect monogenic disease in these fetuses. In the context of important recent publications on exome sequencing in prenatal populations, an updated review of genetic testing options in CC anomalies is presented.