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Genetic and carrier screening helps identify the risk of certain genetic conditions in your baby and can guide decisions about further testing. These screenings range from simple blood tests to diagnostic procedures.
Screening tests estimate the risk that your baby may have a genetic condition. They are usually non-invasive and pose no risk to you or your baby. Examples include Non-Invasive Prenatal Testing (NIPT), Maternal AFP, Integrated Screening, and Genetic Carrier Screening.
Diagnostic tests provide a definitive answer about the presence of certain conditions. They are invasive and carry a small risk of complications. Examples include Amniocentesis and Chorionic Villus Sampling (CVS).
Non-Invasive Prenatal Testing (NIPT)
From 9 weeks
Screens for common chromosomal conditions (Trisomy 21, 18, 13) & fetal sex
Screening
Genetic Carrier Screening
Anytime
Determines if parents carry genes for certain disorders (CF, SMA, Fragile X, etc.)
Screening
Maternal AFP
15-18 weeks
Screens for neural tube defects, Down syndrome, other fetal/placental issues
Screening
Amniocentesis
15-20 weeks
Diagnoses chromosomal abnormalities & certain birth defects
Diagnostic
Chorionic Villus Sampling (CVS)
10-13 weeks
Diagnoses chromosomal abnormalities & some genetic disorders
Diagnostic
Your healthcare provider can help you decide which screenings or diagnostic tests are right for you based on your personal and family medical history, age, and any findings from your pregnancy. If a screening test indicates an increased risk, your provider may recommend follow-up testing or a consultation with a genetic counselor.
It’s important to ask questions and share your concerns—understanding your options helps you make informed decisions about your pregnancy and your baby’s health.