Study on Diagnosis of Fetal Chromosomal Abnormalities by Ultrasound Screening and Ultrasound-Guided Amniocentesis

Abstract

With advancements in modern medical technology, prenatal diagnosis has become increasingly crucial. This review focuses on exploring the clinical value, application status, and research progress of two key prenatal diagnostic methods—ultrasound screening and ultrasound-guided amniocentesis—in the detection of fetal chromosomal abnormalities. By systematically summarizing relevant literature and clinical studies, the review analyzes the effectiveness, safety, and applicable scenarios of these two methods, compares their advantages and limitations with other common prenatal screening and diagnostic techniques, and identifies the core indications for their clinical application. The study reveals significantly higher detection rates of chromosomal abnormalities in the ultrasound screening abnormal group compared to the Down syndrome screening group. Key indications for amniocentesis include abnormal Down syndrome screening results, ultrasound screening abnormalities (such as NT thickening), and advanced maternal age. This research demonstrates the clinical significance of early pregnancy ultrasound screening in detecting fetal chromosomal abnormalities, while ultrasound-guided amniocentesis proves to be a safe and reliable diagnostic method.