Genetic Testing During Pregnancy

Woman’s genetic counselors can help you understand your genetic risks for certain diseases, such as cancer, or for passing an existing disease on to your child. Genetic counseling  can lead to the earliest detection of diseases you or your baby may be at-risk of developing.

If you are concerned about diseases that run in your family, talk to your doctor about genetic counseling.

What is Genetics?

Genetics is the study of heredity, the process in which parents pass certain genes onto their children. A person's physical appearance – height, hair color, skin color and eye color – are determined by genes. Other characteristics affected by heredity include:

• Likelihood of getting certain diseases
• Mental abilities
• Natural talents

Humans have an estimated 100,000 different genes that contain specific genetic information, and these genes are located on stick-like structures in the nucleus of cells called chromosomes.

When a gene is abnormal, or when entire chromosomes are left off or duplicated, defects in the structure or function of the body's organs or systems can occur. These mutations or abnormalities can result in disorders such as cystic fibrosis, a recessive genetic disease, or Down syndrome, an abnormality that occurs when a baby receives three No. 21 chromosomes.

Genetics in Pregnancy

Each person has more than 100,000 genes that direct the growth and development of every part of the body. These genes carry instructions for dominant or recessive traits that can be passed on to a child.

People who might be especially interested in genetic counseling for pregnancy include:

• Couples who are first cousins or otherwise related by blood
• Couples who belong to certain racial/ethnic groups that have a higher incidence of a particular genetic disease
• Couples who have had repeated miscarriages
• Women who are pregnant or planning to become pregnant after age 35

A common tested gene is Cystic fibrosis. Women who are pregnant or deciding to become pregnant can be screened to determine if they are carriers of this mutation. Cystic fibrosis (CF) is a  genetic  condition that affects a protein in the body. This inherited disorder affects mostly the lungs, but also the pancreas, liver, kidneys, and and digestive system. Newborn screenings helps with early diagnosis.

It’s best to know your family history, take your concerns to your doctor, ask them about risks and determine if testing would be appropriate for them.

Genetics and Cancer

You might be interested in genetic testing if you have a strong family history of certain cancers or other high-risk factors.

Should it be necessary, Woman’s genetics team, which includes geneticist, Dr. Duane Superneau, can work with your oncologists and breast surgeons in determining a need for genetic testing and your course of treatment.