Prenatal Genetics

Common Reasons for Abnormal Results:

• Blood test shows higher or lower hormone levels
• Noninvasive prenatal screening (NIPT) shows increased risk
• Ultrasound shows differences in growth or organs

Common Signs Before Birth:

These conditions often do not cause symptoms in the pregnant person. Signs of a chromosome condition may be seen on testing, such as:

• Abnormal prenatal screening results
• Differences seen on ultrasound
• Changes in fetal growth
• Heart or organ differences

Common Signs Before Birth:

• Differences seen on routine ultrasound
• Abnormal screening results
• Changes in growth

Common Reasons for Referral:

• Known genetic condition in a parent
• Previous child with a genetic condition
• Family history of birth defects
• Parent is a known carrier of a condition

Common Signs Before Birth:

Often there are no symptoms during pregnancy. Sometimes evaluation and testing may show:

• Abnormal carrier screening results
• Differences seen on ultrasound
• Family history of a known condition

Conditions Addressed:

• Confirmed genetic conditions
• Structural birth defects
• Complex medical needs at birth

Before Guidance:

The team reviews test results and imaging. Meetings with specialists may be scheduled.

After Guidance:

A clear care plan is created. Delivery may be planned at a hospital with the right specialists. Ongoing support is provided.

Conditions Addressed:

• High-risk pregnancies
• Genetic conditions
• Abnormal screening or imaging results

Coordination Before Your Visit:

Your case may be reviewed by both teams. Appointments may be scheduled on the same day when possible.

Coordination After Your Visit:

You will receive a unified care plan. Providers will communicate with each other to support your care throughout pregnancy.

Conditions Addressed:

• Chromosome conditions
• Single-gene conditions
• Abnormal screening results

Before the Procedure:

Your provider will explain the risks and benefits. You will review and sign consent forms. The procedure is done in a clinic or hospital setting.

After the Procedure:

Mild cramping may occur. Most people return to normal activity within a day. Results are usually ready in one to two weeks. The team will review results with you.

Conditions Addressed:

• Heart defects
• Brain or spine differences
• Growth concerns
• Structural birth defects

Before the Evaluation:

You may have a detailed ultrasound. The team will review prior imaging and health history.

After the Evaluation:

You will receive an explanation of the findings. More testing may be offered. Care planning may begin if needed.

Conditions Addressed:

• Chromosome conditions
• Single-gene conditions
• Inherited family conditions
• Abnormal prenatal screening results
• Birth defects seen on ultrasound

Before the Appointment:

You may be asked to share your personal and family health history. It can be helpful to bring past test results or ultrasound reports. However, no special preparation is needed. Our experts will walk you through the process.

After the Appointment:

You will receive a clear summary of your risk and testing options. If testing is chosen, the team will help schedule it. Follow-up visits may be planned to review results.

Conditions Addressed:

• Cystic fibrosis
• Spinal muscular atrophy
• Other inherited disorders

During the Assessment:

You will share details about family members and their health history. Blood testing may be offered.

After the Assessment:

Results are explained in simple terms. If both parents carry a genetic change in the same gene, more testing options may be discussed.

Conditions Addressed:

• Down syndrome
• Trisomy 18
• Other chromosome conditions
• Some birth defects

Before the Test:

Screening usually involves a blood draw and ultrasound. Your provider will explain what the test can and cannot tell you.

After the Test:

Results are reviewed with you. If risk is higher than expected, diagnostic testing may be offered.

Conditions Addressed:

• Known family genetic conditions
• Carrier status for inherited disorders
• Previous pregnancy with a genetic condition

During the Appointment:

You may be asked about family health history. Carrier testing and other options may be discussed.

After the Appointment:

You will understand your risks and testing options. This information can help guide future pregnancy planning.