There are multiple options to screen your baby for the likelihood of several genetic abnormalities. These tests can screen for Down's Syndrome, Trisomy 18, neural tube defects, or Cystic Fibrosis. All of the screening tests are optional tests that you may or may not wish to have done.
Screening Type
|
Time Frame
|
How we test for it
|
What it tests for
|
Rate of detection
|
|
First Screen (quickest results - not most accurate)
|
11-14 weeks
|
Bloodwork and sonogram
|
Down Syndrome
Trisomy 18
|
83% of cases
80% of cases
|
|
Quad 4 (longer wait for results - tests also for neural tube defects - not most accurate)
|
14-22 weeks
|
Bloodwork
|
Down Syndrome
Trisomy 18
Neural tube defects
|
81% of cases
80% of cases
80% of cases
|
|
Integrated Screen (longer wait for results - most accurate)
|
11-14 weeks
AND
14-22 weeks (16 weeks ideal)
|
Bloodwork and sonogram at 11-14 weeks combined with repeat bloodwork at 14-22 weeks
|
Down Syndrome
Trisomy 18
Neural tube defects
|
92% of cases
90% of cases
80% of cases
|
|
Cystic Fibrosis Screen
|
Any time
|
Bloodwork
|
Cystic fibrosis
|
100% - if you are found to be a carrier, the baby's father must be tested to then determine the chances of your baby inheriting the disease.
|
If any of the first 3 screens come back abnormal, you may be referred to a high-risk pregnancy center for a consultation and a detailed ultrasound and/or an amniocentesis. If you are over age 35, you may choose to have the amniocentesis without having these tests done first. Our office has been credentialed to perform Nuchal Translucency (NT) measurements, which is part of the first screen and integrated screen. This is a sonogram best done at 12 weeks to measure the skin thickness on the back of the baby's neck. This will help determine if a fetus has an increased risk of certain birth defects. Please review these options with your obstetrical provider to determine which of these tests is best for you and your baby.
