EARLYSCREEN -First Trimester Screen

What is Early Screen?

Early Screen is a simple blood test.  Combine with an 11-13 week ultrasound exam, Early Screen can help determine your chances of having a baby with Down syndrome, Trisomy 18 or Trisomy 13.

Your doctor may use Early Screen to check for these conditions because they are the most common chromosome conditions.  They are caused by a change in the number or structure of information within your baby’s cells.  Although the risk of having a baby with a chromosome condition can occur at any age, it increases with a mother’s age.

What is Down Syndrome?

Down syndrome occurs when there is an extra copy of a chromosome 21.  Individuals with Down syndrome have mental retardation and often physical anomalies, like heart defects.

What are Trisomy 18 and Trisomy 13?

Trisomy 18 occurs when there is an extra chromosome 18, Trisomy 13 occurs when there is an extra chromosome 13. Both disorders cause profound mental retardation and multiple birth defects.  While Trisomy 18 and Trisomy 13 are more severe than Down syndrome, they are less common.  These conditions make up approximately half of the chromosomal abnormalities seen at live birth.  Early Screen may detect some, but not all, of the remaining chromosome conditions.

Who should be offered Early Screen?

Early Screen should be offered to all women less than 35 years of age with no family history of chromosome abnormalities or women under 33 years who are carrying twins.

Women who will be 35 years of age or older at delivery, who will be 33 years of age carrying twins, or who have a family history of a chromosome condition, are routinely offered diagnostic testing by chorionic villus sampling (CVS) or amniocentesis for prenatal chromosome diagnosis.

CVS and amniocentesis are methods of collecting a sample of villi or baby’s cells to diagnose 99.9% of all chromosome conditions.

Early Screen is not a substitute for a diagnostic test.

Women who decline diagnostic testing may pursue Early Screen accepting these limitations:

  • It is a screening test which estimates your risk but does not give a diagnosis like CVS or amniocentesis.
  • It estimates risks for 3 chromosome conditions.
  • It will miss some chromosome conditions diagnosed by CVS or amniocentesis.
  • It may falsely reassure some patients who, even after screening, have an increased risk for other chromosome conditions due to age or family history.

How is Early Screen performed?

Blood is taken from your arm or with a finger stick to measure the levels of two proteins, hCG and PAPP-A.  The ultrasound measures a fluid-filled space at the back of your baby’s neck (nuchal translucency) and may examine the nasal bone.

What if my screening test shows my risk is increased?

An increased risk on a screening test does not mean that a chromosome condition has been diagnosed.  You may be offered genetic counseling and a safe diagnostic CVS or amniocentesis for chromosome diagnosis.

What is my Early Screen test result is within normal range?

A result in the normal range on a screening test reduces your risk, but does not rule out Down syndrome, Trisomy 18 or Trisomy 13.

What about a repeat screen?

Repeat chromosome screening is not standard care or is not recommended.  A follow-up triple or quad screen is unlikely to improve detection.

What if I plan to continue my pregnancy under any circumstance?

Your health care provider feels Early Screen may provide information which will be helpful to you and your provider.

Call GeneCare today for additional information or with questions regarding any of our services.

(800) 277-4363