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FETAL GENETIC TESTING

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.





739 Irving Avenue - Suite 530 Syracuse, NY 13210 Tel: 315-478-1158 - Fax: 315-478-3014

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