Enhanced Prenatal Screening
Program
University Hospitals
MacDonald Women’s Hospital
2012
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
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
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
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)
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
“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 216-286-6759
• Genetics staff will call patients for all abnormal results
> 1/270 risk
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
Ordering Second Trimester
Component
Fully complete this
requisition for
second part of
contingency screen
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
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
New Prenatal
Screening Option
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
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 10-23 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
verifi® NIPT Facts
Sensitivity
Specificity
Trisomy 21
~99.9%
Trisomy 21
100%
Trisomy 18
97.8%
Trisomy 18
100%
Trisomy 13
78.6%
Trisomy 13
100%
sensitivity = ability to correctly identify positive case
specificity = ability to correctly identify negative case
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
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
Getting Started
Putting this all into practice
LOW RISK PATIENTS
(HIGH RISK SHOULD BE SCHEDULED FOR COUNSELING
AT 10 WEEKS)
Blood draw for PAPP-A and HCG
at 9-12 weeks.
High Risk
> 1/65 risk for Down syndrome
Counseling- tests offered
Invasive testing
Maternal serum fetal DNA
test
Complete Sequential
Ultrasound scheduled per usual
11 4/7 weeks to 14 weeks
(12 weeks optimal)
Intermediate Risk
1/66 to 1/2000 risk for Down
syndrome
Brief Counseling
Sequential screen
> 1/270 risk -counseling
< 1/270 riskCounseling based on results
Low Risk
< 1/2000 risk for Down syndrome
No further testing
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 (631-4250800)
– 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 983-1134
• New brochures that explain all options forthcoming
Resources
• For completion of First Check card:
http://www.perkinelmer.com/content/flashFiles/DBS_Card/player.html
• Questions:
Jane Corteville, M.D.
pager 36820*, office 216-844-3787
jane.corteville@uhhospitals.org
Leslie Cohen, M.S.
leslie.cohen@uhhospitals.org
Cisco phone 216-286-6759, office- 844-7213
pager- 36590*
*Pager main line: 216-207-7243