Fetal Anomalies: The Role of Early Anatomy Scan
摘要
The first-trimester ultrasound is essential for the early detection of congenital anomalies, significantly improving prenatal care and outcomes. Typically performed between 11 and 14 weeks of pregnancy, this screening helps assess fetal development, detect structural and chromosomal abnormalities, and guide appropriate management. Initially focused on aneuploidy screening, such as trisomy 21 using the combined test, the role of first-trimester ultrasound has expanded to include the assessment of early fetal anatomy. With the advent of cell-free DNA (cfDNA) screening, the ultrasound remains crucial in identifying significant anomalies, even in cases of low-risk screening test. Key components evaluated in the first trimester include nuchal translucency (NT), nasal bone presence, tricuspid regurgitation, ductus venosus flow, and the right subclavian artery, all of which can indicate chromosomal or structural abnormalities. NT, in particular, remains a vital marker for a range of anomalies, even in the absence of aneuploidy. Additionally, the first-trimester ultrasound allows for the identification of a variety of fetal malformations, including acrania, omphalocele, and gastroschisis, with varying detection rates depending on the anomaly. Despite its critical role, the first-trimester ultrasound has limitations in detecting certain abnormalities, such as neural tube defects or facial clefts. Therefore, a second-trimester scan is often recommended to confirm findings and assess further. The sensitivity of the first-trimester ultrasound varies, but it is especially effective for detecting lethal anomalies. Challenges persist in global accessibility, cost, and the need for experienced sonographers and standardized protocols. However, integrating early ultrasound screening into prenatal care is key to improving outcomes and guiding clinical decisions throughout pregnancy.