Prenatal Karyotyping POC

Prenatal karyotyping is a diagnostic genetic test performed on fetal cells obtained through procedures like amniocentesis or chorionic villus sampling (CVS). The goal is to analyze the fetus’s chromosomes to detect numerical abnormalities (such as extra or missing chromosomes) and large structural abnormalities, including:
Aneuploidies (e.g., trisomy 21, 18, 13)
Sex chromosome abnormalities (e.g., Turner syndrome [45,X], Klinefelter syndrome [47,XXY])
Large deletions or duplications
Balanced or unbalanced translocations
The test involves culturing fetal cells, then staining and analyzing the chromosomes under a microscope to produce a karyogram, which is a visual representation of the chromosomes.