Principles and Applications of Fetal Chromosome Number and Structure Analysis

Abstract

A crucial diagnostic technique employed in prenatal diagnosis is examining the quantity and arrangement of fetal chromosomes. The fundamental premise of this study is to determine the chromosomal count in the fetal cells and detect any genetic or chromosomal abnormalities that may be present. A total of 46 chromosomes are typically present in the human body, organized into 23 pairs. These pairs include one pair of sex chromosomes and 22 pairs of autosomal chromosomes. This study enables the identification of chromosomal abnormalities, such as trisomy (the presence of an additional chromosome) and monosomy (the absence of a chromosome), which can have an impact on the health of the fetus. In addition to determining the number of chromosomes, this examination can also detect structural chromosome abnormalities like translocations, deletions, and duplications, which might potentially affect the health of the fetus. This investigation's findings provide significant insights to both patients and clinicians, enabling them to make more informed choices about continuing the pregnancy and receiving appropriate medical attention if genetic abnormalities are detected. This study can also be utilized for the identification of particular genetic illnesses associated with specific gene mutations, thereby aiding in treatment strategizing and postnatal readiness.