Genetic Screening

Genetic screening is an important part of prenatal care that can provide early insight into your baby’s health and potential inherited risks. These non-invasive tests can help identify whether you or your partner carry genes linked to certain conditions and whether a pregnancy may be at increased risk for specific chromosomal differences.

At MyObgyne in San Tan Valley, AZ, we offer genetic screening guidance as part of pregnancy care so you can understand your options, timing, and next steps based on your goals and medical history.

What Is Genetic Screening?

Genetic screening refers to tests that look for inherited or spontaneous changes in genes or chromosomes. During pregnancy, screening commonly falls into two categories:

• Carrier screening: Checks whether you or your partner carry genes for inherited conditions that could be passed to a baby.
• Chromosomal screening: Assesses the chance of certain chromosomal conditions in a pregnancy, such as trisomy 21 (Down syndrome), trisomy 18, or trisomy 13.

These screenings are typically offered early in pregnancy and are designed to provide information that can guide follow-up testing, planning, and support.

Carrier Screening

Carrier screening can be completed before or during pregnancy and typically involves a blood test. Many people are carriers for genetic conditions without having any symptoms. If both genetic parents are carriers of the same condition, there is a higher chance that the baby could inherit it.

Carrier screening may include testing for conditions such as:

• Cystic fibrosis
• Spinal muscular atrophy (SMA)
• Tay-Sachs disease
• Sickle cell anemia
• Thalassemia
• Fragile X syndrome

Expanded carrier panels may include additional conditions based on your background, personal history, or family history. Your provider can help you choose an appropriate panel and understand what the results mean.

Chromosomal Screening

Chromosomal screening estimates the chance that a pregnancy is affected by certain chromosomal conditions. These tests are optional and are not diagnostic. They are designed to help you decide whether additional evaluation is appropriate.

Common options include:

• Non-Invasive Prenatal Testing (NIPT): A blood test that screens fetal DNA in the pregnant patient’s blood for common trisomies and sex chromosome conditions, often available as early as 10 weeks.
• First-trimester screening: A combination of blood work and ultrasound (nuchal translucency scan), typically performed around 11 to 14 weeks.
• Second-trimester quad screen: A blood test offered between 15 and 20 weeks that estimates risk for Down syndrome, neural tube defects, and other concerns.

Your provider will recommend the most appropriate screening approach based on your pregnancy timeline, health history, and preferences.

Who Should Consider Genetic Screening?

Genetic screening is available to all pregnant patients. It may be especially recommended if you:

• Have a family history of genetic or chromosomal conditions
• Will be age 35 or older at the time of delivery
• Are part of an ethnic group with higher carrier risk for certain conditions
• Had an abnormal result in a prior pregnancy
• Want additional information to guide prenatal planning
• Are adopted, or your partner is adopted, and family history is unknown

If you are not sure what testing is appropriate, we can review your history and explain the options in a clear, step-by-step way.

What If My Results Are Abnormal?

An abnormal or higher-risk screening result does not automatically mean that a baby has a condition. It means more evaluation may be needed to better understand the result. Next steps may include:

• Genetic counseling to review results and discuss options
• Diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis
• Referral for specialized pregnancy care or additional imaging if needed

We will review results with you, answer questions, and help you decide on next steps that fit your values and goals.

Supporting Informed Decisions During Pregnancy

Genetic screening can give you time to understand your options, plan ahead, and feel more prepared. Whether results provide reassurance or lead to additional testing, you deserve clear information and supportive guidance.

To learn more about genetic screening and prenatal care at MyObgyne in San Tan Valley, AZ, schedule an appointment today.