Case Study 12-1
Amniotic fluid was received in the cytogenetics laboratory with a request for chromosomal analysis. The patient was a 40-year-old female with a history of miscarriages. Half of the 10-mL specimen was centrifuged, and the cell pellet was resuspended in methanol fixative. The remaining cells were resuspended in growth medium with phytohemagglutinin (PHA). Two days later, colcemid was added to the cell culture. The cells were harvested in hypotonic saline, fixed in methanol, and spread on slides for examination. The results of the karyotype analysis indicated that all cells examined contained 47,XXY.
The other set of cells in the methanol fixative can be used to perform FISH studies. FISH is a common cytogenic technique that is performed to look for chromosomal abnormalities in the cell. Apart from performing karyotyping analysis and observing under the microscope FISH is more accurate which can give better confirmation.
FISH (Fluorescence In Situ Hybridisation) is a technique where fluorescent probes bind to specific regions of the chromosome with high specificity and within the entire tissue. Since the probes are labelled with a flurochrome it is easier to observe the region of biding in the tissue by using a fluorescent microscope. Hence the location of abnormality in the cell can be identified.This is an accurate and precise method to ensure and support the karyotype results. Nowadays FISH is a routine technique for diagnosis of deletions and additions in the chromosome to detect down syndrome, Cri-du-chat syndrome and many more.Technology is making things more smooth as now there are also chips on which the technique can be done and results can be interpretated soon rather than the usual way of making a slide which needs more time labour and resources.
It is mostly not needed to store the cells for further studies as already FISH is a confirmative test.
As the other half of the cells was already diagnosed for physical chromosomal abnormalities it is not needed to be done again.
Case Study 12-1 Amniotic fluid was received in the cytogenetics laboratory with a request for chromosomal...
Case Study 12-1 Amniotic fluid was received in the cytogenetics laboratory with a request for chromosomal analysis. The patient was a 40-year-old female with a history of miscarriages. Half of the 10-mL specimen was centrifuged, and the cell pellet was resuspended in methanol fixative. The remaining cells were resuspended in growth medium with phytohemagglutinin (PHA). Two days later, colcemid was added to the cell culture. The cells were harvested in hypotonic saline, fixed in methanol, and spread on slides for...
Case Study 12-1 Amniotic fluid was received in the cytogenetics laboratory with a request for chromosomal analysis. The patient was a 40-year-old female with a history of miscarriages. Half of the 10-mL specimen was centrifuged, and the cell pellet was resuspended in methanol fixative. The remaining cells were resuspended in growth medium with phytohemagglutinin (PHA). Two days later, colcemid was added to the cell culture. The cells were harvested in hypotonic saline, fixed in methanol, and spread on slides for...
Case Study 12-1 Amniotic fluid was received in the cytogenetics laboratory with a request for chromosomal analysis. The patient was a 40-year-old female with a history of miscarriages. Half of the 10-mL specimen was centrifuged, and the cell pellet was resuspended in methanol fixative. The remaining cells were resuspended in growth medium with phytohemagglutinin (PHA). Two days later, colcemid was added to the cell culture. The cells were harvested in hypotonic saline, fixed in methanol, and spread on slides for...
Case Study 12-1 Amniotic fluid was received in the cytogenetics laboratory with a request for chromosomal analysis. The patient was a 40-year-old female with a history of miscarriages. Half of the 10-mL specimen was centrifuged, and the cell pellet was resuspended in methanol fixative. The remaining cells were resuspended in growth medium with phytohemagglutinin (PHA). Two days later, colcemid was added to the cell culture. The cells were harvested in hypotonic saline, fixed in methanol, and spread on slides for...