Genetic Screening Health Channel

Definition

Genetic counseling is a process in which a qualified professional shares information about genetic conditions. This information includes specifics about the condition in question, tests used to identify that condition, and help in understanding any laboratory test results. This helps parents, potential parents, and affected individuals make informed and educated decisions for themselves and their children.

Alternative Names

Prenatal diagnosis

Information

For over 4,000 years, people have noticed that certain diseases run in families. However, the "why" was unknown until modern science showed how genetic information is transmitted.

Present-day medicine recognizes that genetic diseases are inherited based on the nature of DNA, genes, and chromosomes. Now that the human genome has been completely sequenced, scientists are better able to study how changes in DNA cause human disease. This will ultimately help in diagnosing and treating genetic disorders.

Many diseases that involve a single gene defect can now be diagnosed very early in pregnancy. Prenatal diagnosis looks at fetal cells in the mother's blood, amniotic fluid, or chorionic villi. This may detect problems while the baby is still growing or after birth. In late pregnancy, tests may examine blood from the umbilical cord.

Couples who have a high risk of passing a genetic (hereditary) disorder to a child may consider pre-implantation genetic diagnosis (PGD). The procedure is done in the lab after artificial insemination about 3 - 4 days after fertilization.

Laboratory scientists remove a single cell from each embryo and screen the material for specific genetic disorders.