NHGRI logo


Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis, a Natural History Study

A study exploring how prenatal blood test results for the baby might also detect cancer in the mother.


The purpose of the Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY) study is to identify the reason for the abnormal or non-reportable noninvasive prenatal testing (NIPT) results for each of our study participants. All of the tests are available for free (no insurance required) and all results are shared with the participants. These will help to determine the best approach for evaluating pregnant women who receive NIPT results suggestive of cancer. Currently, when these false positive or non-reportable results come up in prenatal clinics, there is a lot of confusion. The pregnant person is often unaware that NIPT could tell her anything about her own health. Many OB/GYNs have never seen these types of results before and may be unfamiliar with their significance for a mother’s health. The laboratory report often includes little or no information, and there are currently no standard guidelines as to what follow-up examinations should be offered to evaluate the mother’s health.  The IDENTIFY study evaluates pregnant women in real-time using a standard protocol for all of the participants so that we can generate the evidence needed to inform healthcare providers worldwide how pregnant people should be managed following NIPT results that are suggestive of cancer.  You have the potential to benefit directly from this study if we learn something important about your health.

Who can join?

People 18 years and older who: 

  • received abnormal or non-reportable non-invasive prenatal testing (NIPT) results.

  • had a follow-up test (an ultrasound examination or a procedure such as amniocentesis or CVS) on your baby that was normal.

  • are currently pregnant or up to two years postpartum.

Frequently Asked Questions


Will I receive the results of my evaluations? 
Yes. The results of your evaluations will be shared with you as soon as they are available.  


Are the evaluations safe to do during pregnancy? 
Yes, all of the evaluations are safe for you and safe for your baby. MRI is routinely used in pregnancy to evaluate for fetal abnormalities or to answer clinical questions. There are no data suggesting that exposure to MRI at any stage of pregnancy has harmful effects on a developing fetus. All of our MRI scans are completed on a 1.5T scanner, and an intravenous dye is not given.  


How much will it cost for me to participate? 
There is no cost to you or to your insurance company to participate. In addition to free clinical evaluations, we will cover the cost of travel for you and for one companion. We can also offer reimbursement for hotel expenses. 


Do I have to travel to the NIH to participate? 
Traveling to the NIH Clinical Center is the most efficient way to be evaluated and provides us with the most useful information for our study. Most hospitals do not have the same MRI capabilities. This means that instead of one MRI exam, multiple MRIs on several days would be needed to cover your entire body. Most insurance companies will not cover the cost of MRI in an asymptomatic person.  


I’ve already been diagnosed with cancer. Can I still participate? 
Yes. If you were diagnosed with cancer after receiving an abnormal or non-reportable NIPT result, you can still join the study. You will not have to travel to the NIH to participate. Instead, we will ask you to share your medical records and will send you a blood collection kit so that you can mail us some blood samples.  


How often will I have to come to the NIH? 
We want to follow all of our participants for up to 5 years. If you are diagnosed with cancer, we will collect information from you, but you will not have to travel to the NIH.  If you are not diagnosed with cancer, then we might have you come back to the NIH in one year to see if anything has changed.  


What happens if my evaluation suggests I have cancer?  
If the results from your visit suggest you have cancer, we will work with your local provider to identify the appropriate place in or near your hometown to follow up on your study results. In most cases, the next step is to have a biopsy performed to diagnose the cancer. An oncologist will then work closely with a maternal-fetal medicine specialist to establish a treatment plan for you.  


What happens if my evaluation is normal? 
If your evaluation is normal, then we likely will ask you to send us samples of your placenta (afterbirth) at the time you deliver your baby. Your placenta will be tested to see if it is the source of the abnormal NIPT results. If the placenta doesn’t provide an explanation, we will ask you to come back to the NIH in one year to repeat your evaluation.  


Amy Turriff, M.S.
Genetic Counselor
Email: turriffa@mail.nih.gov
Phone: (301) 742-5773

Last updated: January 12, 2023