Genetic Screening

Genetic screening is a key part of prenatal care, offering early insight into your baby’s health and the risk of inherited conditions. These non-invasive tests help identify whether you or your partner carry genes that could affect your baby, and whether your pregnancy may be at increased risk for certain chromosomal conditions.

With simple blood work and expert guidance, genetic screening helps you make informed decisions during pregnancy.

What Is Genetic Screening?

Genetic screening refers to tests that look for inherited or spontaneous changes in genes or chromosomes. These screenings fall into two main categories:

1. Carrier screening:

Checks whether you or your partner carry genes for inherited conditions that could be passed to your baby.

2. Chromosomal screening:

Assesses the risk of chromosomal conditions in your baby, such as Down syndrome (trisomy 21), trisomy 18, or trisomy 13. This includes options like non-invasive prenatal testing (NIPT) and first-trimester screening.

These screenings are typically offered early in pregnancy.

Carrier Screening

Carrier screening can be done before or during pregnancy and involves a simple blood test. You may be a carrier for a genetic condition even if you have no symptoms. If both partners are carriers of the same condition, there’s a higher chance the baby could inherit it.

Common conditions screened for include:

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

Expanded panels may also include dozens or hundreds of additional conditions based on your personal or family history.

Chromosomal Screening

Chromosomal screening assesses whether the baby has an increased risk for conditions related to chromosome number or structure.

Options include:

  • Non-Invasive Prenatal Testing (NIPT): Screens fetal DNA in your blood for trisomies and sex chromosome conditions as early as 10 weeks.
  • First-trimester screening: Combines a blood test with ultrasound (nuchal translucency scan) around 11–14 weeks.
  • Second-trimester quad screen: Blood test offered between 15–20 weeks to assess risk for Down syndrome, neural tube defects, and other concerns.

These tests are optional and designed to give you more information, not a diagnosis.

Who Should Consider Genetic Screening?

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

  • Have a family history of genetic or chromosomal conditions
  • Are age 35 or older at delivery
  • Are part of an ethnic group with higher carrier risk for certain conditions
  • Had an abnormal result in a prior pregnancy
  • Want more information to guide prenatal planning
  • Are adopted, or your partner is adopted, and have no insight into family genetics

Your provider will help determine which tests are right for you and when to perform them.

What If My Results Are Abnormal?

An abnormal result means further evaluation is needed. If results show increased risk, next steps may include:

  • Diagnostic testing like chorionic villus sampling (CVS) or amniocentesis
  • Genetic counseling to understand the results and explore options
  • Specialist referrals for high-risk pregnancy care or pediatric planning

Our team will walk with you every step of the way, helping you understand your options and make the choices that are right for you.

Supporting Informed Decisions

Genetic screening gives you the information and time to prepare, ask questions, and make confident, informed decisions for your growing family. Whether your results offer reassurance or lead to further testing, we’re here with guidance, care, and support.

Schedule your prenatal appointment today to learn more about genetic screening options and how they fit into your care plan.