Karyotyping

Email this page to a friendShare on facebookShare on twitterBookmark & SharePrinter-friendly version Karyotyping is a test to examine chromosomes in a sample of cells, which can help identify genetic problems as the cause of a disorder or disease. This test can: Count the number of chromosomes Look for structural changes in chromosomes

How the Test is Performed The test can be performed on almost any tissue, including: Amniotic fluid Blood Bone marrow Tissue from the organ that develops during pregnancy to feed a growing baby (placenta)

To test amniotic fluid, an amniocentesis is done. A bone marrow biopsy is needed to take a sample of bone marrow. The sample is placed into a special dish or tube and allowed to grow in the laboratory. Cells are later taken from the new sample and stained. The laboratory specialist uses a microscope to examine the size, shape, and number of chromosomes in the cell sample. The stained sample is photographed to shows the arrangement of the chromosomes. This is called a karotype. Certain problems can be identified through the number or arrangement of the chromosomes. Chromosomes contain thousands of genes that are stored in DNA, the basic genetic material. How to Prepare for the Test There is no special preparation needed. How the Test Will Feel How the test will feel depends on whether the sample procedure is having blood drawn (venipuncture), amniocentesis, or bone marrow biopsy. Why the Test is Performed This test may be done: On a couple that has a history of miscarriage To examine any child or baby who has unusual features or developmental delays

The bone marrow or blood test can be done to identify the Philadelphia chromosome, which is found in about 85% of people with chronic myelogenous leukemia (CML). The amniotic fluid test is done to check a developing baby for chromosome problems.

Normal Results Females: 44 autosomes and 2 sex chromosomes (XX), written as 46, XX Males: 44 autosomes and 2 sex chromosomes (XY), written as 46, XY

What Abnormal Results Mean Abnormal results may be due to a genetic syndrome or condition, such as: Down syndrome Klinefelter syndrome Philadelphia chromosome Trisomy 18 Turner syndrome

This list is not all-inclusive. Additional conditions under which the test may be performed: Risks The risks are related to the procedure used to obtain the sample. Procedures that may be done to take the sample include: Amniocentesis Bone marrow biopsy Chorionic villus sampling Venipuncture Ambiguous genitalia Chronic myelogenous leukemia (CML) or other leukemias Developmental delays Multiple birth defects

In some cases, a problem may occur as the cells as growing in the lab dish. Karyotype tests should be repeated to confirm that an abnormal chromosome problem is actually in the body of the patient. Considerations Chemotherapy may cause chromosome breaks that affect normal karotyping results. Your doctor may also order other tests that go together with a karyotype: Microarray -- looks at small changes in the chromosomes Fluorescent in situ hybridisation (FISH) -- looks for small mistakes such as deletions in the chromosomes

Alternative Names

Chromosome analysis

http://www.nlm.nih.gov/medlineplus/ency/article/003935.htm

Amniocentesis
Email this page to a friendShare on facebookShare on twitterBookmark & SharePrinter-friendly version Amniocentesis is a test sometimes done during pregnancy that looks for birth defects and genetic problems in the developing baby. How the Test is Performed Amniocentesis removes a small amount of fluid from the sac that surrounds the baby in the womb (uterus). It is usually done in a doctor's office or medical center. You do not need to stay in the hospital. You will probably have a pregnancy ultrasound first. This helps your health care provider find out exactly where the baby is in your womb. Numbing medicine is then rubbed onto part of your belly. Sometimes, the medicine is given through a shot in the skin on the belly area. The health care provider inserts a long, thin needle through your belly and into the womb. A small amount of fluid (about 4 teaspoons) is removed from the sac surrounding the baby. The fluid is sent to a laboratory, where: Genetic studies are done. Levels of alpha-fetoprotein are measured. Other tests may be done.

Results are usually back within 2 weeks. How to Prepare for the Test Your bladder must be full for the ultrasound. Before the test, blood may be taken to determine your blood type and Rh factor. You may get a shot of medicine called RhoGAM if you are Rh negative. How the Test Will Feel Amniocentesis is most often offered to women at increased risk for bearing a child with birth defects. This includes women who: Will be 35 or older when they give birth.

Had a screening test result that indicates a possible birth defect or other problem. Have had babies with birth defects in previous pregnancies. Have a family history of genetic disorders

Genetic counseling is an option prior to the procedure. This will allow you to: Learn about other prenatal tests Make an unhurried, informed decision regarding options for prenatal diagnosis.

This test can also be done to help: Determine how well your baby's lungs are developed late in the pregnancy Detect a blood type mismatch between the mom and the baby (Rh incompatibility) Diagnose an infection in the baby

Why the Test is Performed Amniocentesis can be used to diagnose many different gene and chromosome problems in the baby, including: Anencephaly Down syndrome Rare, metabolic disorders that are passed down through families

It can also help: Determine how well the baby's lungs are developed Detect spina bifida and other neural tube defects Detect Rh incompatibility Diagnose an infection in the baby

Normal Results A normal result means: No genetic or chromosome problems were seen in your baby Bilirubin and alpha fetoprotein levels appear normal

Note: Even with normal results after an amniocentesis, your baby may still have other types of birth defects. What Abnormal Results Mean An abnormal result may mean your baby has: A gene or chromosome problem, such as Down syndrome and many others Birth defects that involve the spine or brain, such as spina bifida

Talk to your doctor about the meaning of your specific test results. Risks Risks are minimal, but may include: Infection or injury to the baby Miscarriage Leaking of amniotic fluid Vaginal bleeding How the condition or defect may be treated either during or after the pregnancy Special needs your child my have after birth What other options you have regarding maintaining your pregnancy

Alternative Names Culture - amniotic fluid; Culture - amniotic cells; Alpha-fetoprotein - amniocentesis References Simpson JL, Holzgreve W, Driscoll DA. Genetic counseling and genetic screening. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Obstetrics: Normal and Problem Pregnancies. 6th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2012:chap 10. Simpson JL, Richards DA, Otao L, Driscoll DA. Prenatal genetic diagnosis. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Obstetrics: Normal and Problem Pregnancies. 6th ed. Philadelphia, Pa: Elsevier Churchill Livingstone;2012:chap 11.