Karyotyping is a laboratory test that looks at the number, size and shape of a person's chromosomes. It can show missing, extra or rearranged chromosomes, and it is sometimes used in fertility and pregnancy assessments.
Most human cells contain 46 chromosomes arranged in 23 pairs. A karyotype is a picture of these chromosomes, sorted into pairs from largest to smallest. Lab specialists look for an abnormal number of chromosomes, such as an extra copy, or for structural changes, such as a piece that has moved to another chromosome.
A doctor may suggest karyotyping for both partners after repeated miscarriage, or as part of tests for infertility. Some people carry a balanced rearrangement that causes no symptoms but can affect pregnancies. The test can also help diagnose conditions such as Turner syndrome or Klinefelter syndrome.
A karyotype test is most often done on a blood sample. In pregnancy, cells can come from amniotic fluid (amniocentesis) or from the placenta (chorionic villus sampling). Tissue from a pregnancy loss can also be tested. The cells need to grow in the lab first, so results can take a few weeks.
A genetic counselor or doctor can explain what a result means for future pregnancies and which options are available.
Sources: MedlinePlus, MedlinePlus Genetics.
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