Genetic carrier screening
Carrier screening tells you whether you carry a genetic mutation that could be passed to your baby. Carriers usually have no symptoms, these are things you wouldn't know without testing. Ask for this at your preconception appointment.

For Black women: The standard US genetic panel has historically underscreened for conditions more prevalent in Black, African, and African American families. Ask specifically for the expanded carrier panel that includes sickle cell disease, alpha thalassemia, and beta thalassemia. You may have to ask twice.

Screenings tracked0 of 8
Standard panel
Sickle cell disease Ask for this
Especially important for Black, African, Caribbean, and Mediterranean backgrounds
Cystic fibrosis (CF)
1 in 25 people of European descent carry a CF mutation
Spinal muscular atrophy (SMA)
Now on the standard panel, 1 in 40 people are carriers
Fragile X syndrome
Most common inherited cause of intellectual disability. Women are more often premutation carriers.
Thalassemia Ask for this
Alpha and beta thalassemia, relevant for South Asian, Southeast Asian, Mediterranean, and African backgrounds
Tay-Sachs disease
Higher carrier rate in Ashkenazi Jewish, French Canadian, and Cajun populations
If family history suggests it
BRCA1 / BRCA2 Family history
If breast or ovarian cancer runs in your family. Results affect both you and pregnancy planning.
Lynch syndrome
Hereditary colon cancer, relevant if multiple family members had colorectal or uterine cancer
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Fertility awareness
You don't need to track obsessively. The basics: most people ovulate 12–16 days before their next period. Fertile window = the 5 days before ovulation and the day of. Temperature charting (BBT) and cervical mucus are the most reliable body-based signs.
When to see a specialist sooner: Irregular cycles, PCOS diagnosis, endometriosis, age 35+, or haven't conceived after 6 months of trying (12 months if under 35). Don't wait the full year if something feels off.
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Questions for your appointment
Bring this list to your preconception visit.
Ask your provider:
, Can you order an expanded carrier panel including sickle cell and thalassemia?
, Is my TSH in the optimal preconception range (under 2.5)?
, Do any of my current medications need to be switched before I conceive?
, Is my Vitamin D level adequate for pregnancy?
, Am I up to date on vaccinations I can't get while pregnant?