Trisomy (Aneuploidy) for Chromosome (13, 18, 21, X, Y), Amniotic Fluid

Aneuploidy is a genetic disorder where the total number of chromosomes are greater or lower than the usual number (46). Trisomy is a type of aneuploidy where there is an additional chromosome in the body, whereas monosomy is another type of aneuploidy where the body is missing a chromosome copy, i.e., has only 45 chromosomes. Examining for copies and abnormalities in chromosomes in the amniotic fluid can help detect genetic disorders. The Trisomy (Aneuploidy) FISH test is conducted to detect abnormalities in chromosomes 13, 18, 21, X, and Y using Fluorescence In Situ Hybridization. This diagnostic test is specifically designed to identify aneuploidies, which refer to the presence of an abnormal number of chromosomes. To ensure accurate analysis, it is essential to provide a detailed clinical history, including the anomaly scan report, along with the sample. Furthermore, a consent form in compliance with the guidelines of the Pre-Conception and Pre-Natal Diagnostic Techniques (PCPNDT) must be duly signed and submitted. The Trisomy FISH test plays a crucial role in prenatal screening and diagnosis, enabling healthcare professionals to identify and inform expectant parents about chromosomal abnormalities such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13), and other related conditions.