Genetic Screening
Genetic screening is an important part of prenatal care, offering early insight into your baby’s health and identifying potential inherited risks. These non-invasive tests can reveal whether you or your partner carry genes that may affect your baby and assess the likelihood of certain chromosomal conditions. At Care for Womens Medical Group, we provide comprehensive genetic screening and counseling to help you make informed, confident decisions during pregnancy.
What Is Genetic Screening
Genetic screening refers to laboratory tests that look for inherited or spontaneous changes in genes or chromosomes. These screenings fall into two main categories:
1. Carrier Screening
This test determines whether you or your partner carry genetic traits for inherited conditions that could be passed to your baby. It can be done before or during pregnancy with a simple blood draw.
You can be a carrier even if you have no symptoms, and if both partners carry the same condition, there’s a higher risk of passing it to the child.
Common conditions screened for include:
- Cystic fibrosis
- Spinal muscular atrophy (SMA)
- Tay-Sachs disease
- Sickle cell anemia
- Thalassemia
- Fragile X syndrome
Expanded screening panels can test for many additional conditions, tailored to your family and ethnic background.
2. Chromosomal Screening
Chromosomal screening looks for abnormalities related to the number or structure of chromosomes, which can lead to developmental or genetic conditions. Common options include:
- Non-Invasive Prenatal Testing (NIPT): Screens fetal DNA in maternal blood for trisomies and sex chromosome conditions as early as 10 weeks.
- First-trimester screening: Combines blood work with a nuchal translucency ultrasound between 11–14 weeks.
- Second-trimester quad screen: A blood test performed between 15–20 weeks to assess risk for Down syndrome, neural tube defects, and other conditions.
These screenings are optional and designed to provide valuable 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 35 or older at the time of delivery
- Belong to an ethnic group with higher carrier risk for certain conditions
- Have had abnormal results in a prior pregnancy
- Are adopted or have limited family medical history
- Want more information to guide prenatal care and planning
Your provider will help determine which tests are appropriate for your specific situation.
What If My Results Are Abnormal
An abnormal or high-risk result doesn’t mean your baby is affected, but it does indicate that additional testing may be helpful. Your next steps may include:
- Diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis
- Genetic counseling to review results and understand your options
- Specialist referrals for high-risk pregnancy or pediatric planning
Our team will guide you through each step, explaining what the results mean and helping you make decisions that align with your needs and values.
Supporting Informed Decisions
Genetic screening empowers you with knowledge about your pregnancy and allows time to plan and prepare if needed. Whether your results bring reassurance or lead to further evaluation, our providers are here to offer compassionate, personalized support at every stage.
Schedule your prenatal appointment today with Care for Womens Medical Group to learn more about genetic screening and how it fits into your pregnancy care plan.