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Tests

All pregnant women are offered screening tests, such as scans and/or blood tests, to assess the chance of a chromosomal abnormality in the baby, but at present a diagnostic test is the only way to obtain definite information about a baby's chromosomes during a pregnancy.

Up-to-date information on current NHS screening programmes can be found at:

Screening tests

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Screening tests are non-invasive and do not pose any risk to the baby but they will not give enough information to confirm whether the baby has a chromosome defect.

Diagnostic tests

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Invasive tests can rule out or confirm a chromosome abnormality but carry a risk of miscarriage for up to three weeks after the test. In twin or multiple pregnancies invasive tests can show if each baby has normal chromosomes.

Results of Chromosome Tests

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Genetics is the study of human cells, and a Clinical Geneticist will interpret the results of chromosome tests taken from blood, skin, bone marrow, or connective tissue. When tests during pregnancy have shown a chromosome abnormality the clinical geneticist, if consulted, will discuss the results with the family.