Karyotyping

Definition - What does Karyotyping mean?

Karyotyping is the collection and examination of someone's chromosomes. Karyotyping determines if genetic complications are present that would impact development, health, or fertility. Testing can be completed on a fetus, infant, child or adult. The testing may provide a diagnostic framework to issues such as infertility, birth defects, or developmental abnormalities.

Karyotyping is also called a blood chromosome analysis.

FertilitySmarts explains Karyotyping

A karyotype test requires a tissue sample. In a fetus, karyotyping is conducted through amniotic fluid or by testing the placenta. If the test uses amniotic fluid, a procedure called an amniocentesis is completed. Blood and bone marrow may also be used for karyotyping.

Once the tissue has been gathered, cells from the tissue are selected and tested in a laboratory. Using a specialty microscope, the chromosomes within the cells are inspected.

Once the analysis is complete, results show the number of chromosomes present in the cells, and whether or not any abnormalities exist, such as missing chromosomes, extra chromosomes, or rearranged chromosomes.

If the test is being completed on a fetus, the results indicate whether or not there is a risk of birth defects or genetic conditions. If the test were being completed on an adult it would indicate if they are carriers of genetic disorders that may be passed down to children, or at risk for problematic fertility complications.

In Vitro Fertilization (IVF) in conjunction with pre-implantation genetic diagnosis (PGD) may be of benefit to individuals looking to concieve with certain chromosome defects.

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