Women's health

Through advancements in prenatal technology, Intermountain Healthcare's genetic counselors and specialists can identify potential conditions or birth defects months before birth. Early detection allows you and your physicians to better plan for, treat, and manage any complications.

Genetic counseling is encouraged for all expecting mothers, particularly those who may carry hereditary conditions. In some cases, genetic counseling may be recommended prior to conception. Speak with your Intermountain physician about what prenatal testing may be right for you.

A genetic counselor is a health care professional with special training in medical genetics who is able to present complex information in a way that is clear and understandable. If genetic testing is available, a genetic counselor can help a family decide whether testing is right for them.

Genetic counselors see patients for a variety of reasons, including preconception (before pregnancy) counseling to review medication use, family history of birth defects, or medical disease that might affect pregnancy outcome, such as diabetes. Counseling is an essential part of prenatal diagnosis. Genetic counselors provide information and support to families regarding birth defects and genetic disorders. Patients should have counseling prior to any prenatal diagnosis procedure. During your session the counselor will obtain the family history; review in detail the process of prenatal diagnosis; and discuss the benefits, risks, and limitations of testing for your specific concern. Some couples may wish to have genetic counseling prior to getting pregnant if they have particular concerns about their family history.

Prenatal diagnosis can help determine the health and identify genetic conditions in an unborn fetus.

There are many indications for undergoing prenatal testing:

• The mother will be 35 years or older at the estimated time of delivery
• Results from a maternal blood test that indicates an increased risk for some conditions
• A family history of birth defects, including open neural tube defect, cleft lip/cleft palate, and heart defects
• Family history or a previous child with a chromosomal condition
• A known chromosomal rearrangement in one or both parents
• Carriers of known genetic conditions, such as:
  • Cystic Fibrosis
  • Tay-Sachs Disease
  • Sickle Cell Anemia
• The mother is a carrier of a gene for a sex-linked disease like hemophilia
• Concerning ultrasound findings for serious birth defect
• Other increased risk for a detectable fetal condition
• Medication exposure during pregnancy
• Maternal disease (such as diabetes)

Not all conditions can be determined prenatally. However, by using a range of techniques, prenatal diagnosis can help:

• Develop management plan
• Find out more about the outcome and management of the pregnancy
• Plan for complications at the time of birth or afterwards
• Establish how a diagnosis will affect future pregnancies

Early in your pregnancy, your doctor or midwife will discuss prenatal tests that aim to detect the risk or presence of a birth defect or serious disease in your developing baby. For more complete information, talk to your doctor or midwife.