1. Enhanced Prenatal Screening Program
University Hospitals
MacDonald Women’s Hospital
2012

2. Background
Since 2007, we have been offering first trimester screening through our First Check program
Pros:
Allows risk assessment during first trimester
Does not require 2nd blood draw in 2nd trimester for full risk assessment
Cons:
Lower detection rates when compared to screening tests that incorporate 2nd trimester analytes
Many women who screen positive on First Check may undergo invasive tests unnecessarily
Currently, women get blood drawn & NT measurement on same day

3. Enhanced Screening
By combining 1st trimester & 2nd trimester information, we can provide improved detection rates & decrease false positive rates for Down syndrome
We will be implementing a contingency screening program; the second trimester blood draw depends on the first check risk
We will also be offering Instant First Check which will expedite reporting of results and allow immediate counseling which improves patient convenience and lessens anxiety

4. Instant First Check
Blood is collected in the practitioners’ office or in the lab from 9-13 weeks
Patient is scheduled for an ultrasound at least 1 week after the blood draw between 11 4/7 – 14 weeks
Genetic counselor is available on site (sites will rotate) to give the patient instant results

5. First Check Blood Draw Requisition
Enter Referring MD name
Complete patient information (patient can do)
Check first box and fill in ultrasound date if known
Complete insurance information (patient can do)

6. Nuchal Translucency
Schedule patient for “Nuchal Translucency for Instant First Check”
Please make sure that patient or whoever is scheduling tells the Imaging Schedulers that patient has already had blood drawn for First Check
After NT is obtained, patient will be sent to Genetic Counselor where NT measurement will be entered with blood test results
Results will be discussed with patient at that time in person
If a genetic counselor is not present at that site, the genetic counselor will call the patient later in the day

7. “Traditional First Check”
If patient is approaching 13 weeks, it is recommended to have a “traditional” First Check drawn
Will allow for patient to still have early screening
Patient presents to Imaging and NT will be obtained and blood drawn same day
No instant First Check
Results reported out by providers office
Providers office must determine level of risk and need for further testing
Genetics staff available for questions at
Genetics staff will call patients for all abnormal results
> 1/270 risk

8. Contingency Screening
First Check risk for DS* > 1 in 65
Patient offered diagnostic testing (CVS or amnio)
First Check risk for DS < 1 in 2000
Patient will not be offered further screening
First Check risk for DS between 1/66 - 1/2000
Patient will be offered second trimester screening to help stratify into high risk vs. low risk groups
AFP, uE3, hCG, inhibin A will be incorporated with NT & PAPP-A
Increases detection rate for DS & lowers false positive rate
If second trimester risk yields > 1 in 270 risk for DS, patient will be offered diagnostic testing (amnio)
*DS = Trisomy 21

9. Ordering Second Trimester Component
Fully complete this requisition for second part of contingency screen

10. QUAD CHECK Will still be offered for those who miss a first check
DO NOT send a second trimester blood draw for contingency screening as a Quad check. This will increase the false positive rate
Abnormal results, > 1/270 risk, will be called to the genetic counselors who will call patient and notify provider of the plan

11. Benefits of Contingency Screening
30% of patients will proceed to second trimester testing
Increases detection rate to ~95% & reduces false positive rate to 3% for trisomy 21
70% of patients will not need a second trimester blood test with no change in the detection rate
First trimester screening alone has 80-90% detection rate & 5% false positive rate for trisomy 21

12. New Prenatal Screening Option

13. Non-Invasive Prenatal Testing
Detects cell-free fetal DNA in maternal serum
Uses mass-parallel sequencing to amplify fetal DNA in order to perform genetic testing
Currently reporting out increases in fetal DNA for chromosomes 13, 18 and 21
It is possible that lab will notify us if other numerical chromosome differences are detected
In the future, it is possible that applications and reporting will expand

14. Non-Invasive Prenatal Testing (NIPT)
Has only been validated in high risk women
Advanced maternal age, abnormal maternal serum screens, previous trisomy, ultrasound markers or findings
Requires genetic counseling prior to ordering
Maternal blood draw from weeks of pregnancy
Laboratories report out if aneuploidy is detected for trisomies 13, 18, and 21
Results take 8-10 days
If positive, CVS or amnio is recommended for confirmation of finding
<1% of samples will not have enough fetal DNA to test
Another sample will be required

15. verifi® NIPT Facts Sensitivity Trisomy 21 ~99.9% Trisomy 18 97.8%
78.6%
Specificity
Trisomy 21
100%
Trisomy 18
Trisomy 13
sensitivity = ability to correctly identify positive case
specificity = ability to correctly identify negative case

16. Costs of NIPT
Given this is a newer test, it is unknown which insurance companies are currently covering NIPT
We encourage submission to insurance so that insurance companies recognize that this testing is being elected
Test is $1700
Patient Assistance Program can be applied for & patient is responsible for $495
Patients with Medicaid will be accepted & there will be no charge to these patients

17. NIPT
NIPT will be offered to any high risk patient who would normally be offered invasive testing
During genetic counseling, this will become a standard offering when discussing screening options
When there are time constraints for reproductive decision making, this may not be the most appropriate test given the 8-10 day turnaround & need for confirmational testing

18. Putting this all into practice
Getting Started
Putting this all into practice

20. Supplies
We will provide each practice with requisition materials to get started
Once that supply runs out, it is the office’s responsibility to maintain supplies
Call NTDLabs to get additional First Check cards ( )
Make sure you ask for cards with Physician Code #5367
Contingency requisition can be photocopied as needed or ordered( with #5367 physician code)
All blood samples need to be routed through the Center for Human Genetics Laboratory
New brochures that explain all options forthcoming

21. Resources For completion of First Check card:
Questions:
Jane Corteville, M.D.
pager 36820*, office
Leslie Cohen, M.S.
Cisco phone , office
pager *
*Pager main line: