NON-INVASIVE PRENATAL TESTING FOR
FETAL AND CHROMOSOMAL ABNORMALITIES
Did you know that pieces of your baby’s DNA circulate in your bloodstream? Noninvasive prenatal testing (NIPT) is a simple blood test that analyzes that DNA (it’s called cell-free DNA, or cfDNA). The test detects patients who are at high risk for a number of genetic disorders including Down syndrome. NIPT is a screening test, not a “diagnostic” test. This means that a “positive” result showing an abnormality of the fetus is NOT always correct. It would need to be confirmed by additional more invasive testing, such as CVS or amniocentesis. A “negative” result is highly accurate and does not require further testing.
This is NOT a required test, but we want you to know that it is available. It is important to know that just because a test was right for a friend doesn’t mean it is right for you. Insurance companies will occasionally cover the test, some do not.
It will likely be covered if you are considered high risk, such as:
-35 years or older
- Have a personal history of chromosomal abnormalities
- Have an abnormality on fetal ultrasound
- Have a positive serum screening test
If you do not meet the above criteria, a low risk NIPT can be offered to you, BUT you will most likely have an out of pocket expense. (Please keep in mind that at 12 weeks a ROUTINE test, called an ultrascreen, is performed to also screen for fetal chromosomal abnormalities. The ultrascreen, which includes a sonogram and fingerstick for blood, provides a risk analysis. Fetal sex is NOT determined with the ultrascreen. It this sono/risk analysis demonstrates and abnormality or increased risk of chromosomal anomalies, a NIPT test can then be performed and is more likely to be covered by insurance)
To do NIPT, a blood sample is drawn in the doctor’s office, after 10 weeks of pregnancy, and is sent to an outside lab. The results are received in approximately 7-10 business days. The test screens for the most common chromosomal abnormalities: trisomy 21 (Down Syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome); some also screen for other abnormalities including triploidy and microdeletion. The fetal sex CAN also be reported.
If you decide you want to proceed with this test, please be aware that there could be an out of pocket expense. It is your responsibility to contact the companies as indicated below.
We currently use the following labs to perform this specialized test:
- Progenity: test name is Innatal. Progenity will submit a claim to your insurance company. There is NO need to contact your insurance company prior to this test. If you receive a bill from your insurance for this test, PLEASE DON’T CALL THE DOCTORS OFFICE ABOUT THIS BILL. YOU ARE TO CALL PROGENITY AT 1-844-753-7280 AND REQUEST THE PROMPT PAY DISCOUNT. Progenity will discount the fee down to approximately $100. (Progenity will also perform this test on low risk patients. You will receive a bill for the test – once the bill is received, call and request the prompt pay discount.)
- Sequenom: test name is MaterniT21. Please use their out of pocket cost estimator by calling 877-821-7266.
- Counsyl: test name is Verifi. This is the preferred lab for those patients with Care Connect Insurance. PLEASE call your insurance company to verify your out of pocket expense (1st baby- code O09.511, more than one child – code O09.521)
It will be very helpful to contact the nurse, Rosemary Thide RN, and let her know PRIOR TO YOUR 10-12 WEEK APPOINTMENT, if you have decided to have this test performed. This will enable her to have your paperwork ready and in your chart on the day of your scheduled appointment. (631-261-3322 ext. 5, or email@example.com).