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Optional Genetic Screening
First trimester screening
First trimester screening tests are used to screen for Down syndrome, Trisomy 13 and Trisomy 18. This test may also show if a baby is at increased risk for heart defects. The test is conducted between 11 and 14 weeks. It is completed by ultrasound and primarily measures the thickness at the back of the baby’s neck, called nuchal translucency. Maternal blood screening tests may also be offered after completion of ultrasound and counseling.
Second trimester screening
Second trimester screening tests are completed between 15 and 22 weeks. Maternal blood screening tests are used to detect neural tube defects and chromosomal birth defects (e.g. Trisomy 18 and abdominal wall defects).
Two different tests may be offered:
- Quad screen is used for women who have not undergone first trimester screening, as it tests for Down syndrome, Trisomy 18 and neural tube defects.
- Alpha-fetoprotein (AFP) is used for women who have undergone first trimester screening as it screens only for neural tube defects. If abnormalities are found on your screening tests, a detailed ultrasound evaluation will be performed, and you may be offered diagnostic testing such as amniocentesis.
*Additional testing and screening may be offered for high-risk patients.
What Disorders Can Screening Tests Detect?
We offer a variety of appointment types. Learn more or call 913-588-1227 to schedule now.