Diagnostic and Biopsy Procedures

What is diagnostic procedure?

Most babies are born healthy. However, every pregnant woman has a small chance of having a baby with a birth defect. Birth defects generally occur in about 3 out of every 100 births. Prenatal diagnostic procedures are medical tests which can be performed during pregnancy to detect certain birth defects.
There are many different kinds of birth defects, but only a few can be diagnosed prior to the baby's birth. Chromosome abnormalities and neural tube defects are the most common birth defects that we look for with routine prenatal diagnosis procedures. Occasionally, prenatal diagnosis procedures are done to detect certain genetic diseases, such as cystic fibrosis and sickle cell disease. This specialized testing is offered when a pregnancy is known to be at-risk for a genetic disease. Sometimes, the risk is based on genetic carrier testing in the parents, other times it may be related to a family history of a genetic disease.
Prenatal diagnostic procedures include amniocentesis and chorionic villus sampling (CVS). Amniocentesis and chorionic villus sampling (CVS) can detect specific birth defects, such as chromosome abnormalities. Both procedures have a small risk of miscarriage or loss of the baby (about 1 in 300 or less).

What is biopsy procedure?

The physician will determine what type of biopsy is needed. The type of biopsy depends on whether the suspicious area is palpable (can be felt), such as a mass or thickening. Non-palpable findings (cannot be felt), such as micro-calcifications, very small mass or vague densities that have shown up only on a mammogram also require a biopsy.

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