IDENTIFY Study: Natural History of Maternal Neoplasia

Background: Pregnant women can get a DNA analysis of their blood. The test tells a woman and her doctor about the DNA of her unborn baby. But some women get test results that are abnormal or not reportable. Researchers want to learn more about the relationship between these test results and cancer. Objective: To better understand prenatal DNA test results and how they can predict cancer, if present, in pregnant women. Eligibility: Women 18 and older who got prenatal DNA test results that were abnormal or not reportable and suggested the abnormality was in the woman and not her baby. Design: Potential participants will be screened by phone or in person. They will talk about their medical history and send copies of their medical records. Eligible participants will have a physical exam and medical history. They will give blood and stool samples. They may have a Pap smear. They will talk to a specialist about the test results they got when they were pregnant. Participants will have magnetic resonance imaging (MRI). They will lie on a table that slides in and out of a metal tube, taking pictures. Participants will complete a paper or electronic survey. It will assess their emotional well-being. Participants will get a list of any possible diagnoses and treatment options. Participants may be followed for up to 5 years. They may give blood samples and copies of their medical records. This can be done without traveling to the NIH. In some cases, people might come back to the NIH in one year to see if anything has changed.

Sex

Female

Minimum age

18 Years

Maximum age

100 Years

* INCLUSION CRITERIA:
* Women, age \>= 18 years.
* Pregnancy for which the following applies:

  * Underwent blood noninvasive prenatal testing (NIPT) during pregnancy to screen for fetal chromosomal aneuploidies and had unusual results that either led to an interpretation of "non-reportable" or multiple aneuploidies inconsistent with a viable fetus.
  * Normal-appearing fetus or fetuses on ultrasound examination and/or a normal fetal or neonatal karyotype. If a fetal anomaly is present but does not explain entirely the NIPT results, or there is a continuing concern for maternal cancer, the individual is still eligible for participation.
* Study enrollment may occur during pregnancy or up to two years postpartum.
* Ability to travel to NIH.
* Ability of subject to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

-The following NIPT results will be excluded:

--Abnormal results that have been associated previously with an increased risk for hematologic malignancy, including but not limited to, Trisomy 8, 20delq, 5delq.

• BACKGROUNDTurriff AE, Annunziata CM, Bianchi DW. Prenatal DNA Sequencing for Fetal Aneuploidy Also Detects Maternal Cancer: Importance of Timely Workup and Management in Pregnant Women. J Clin Oncol. 2022 Aug 1;40(22):2398-2401. doi: 10.1200/JCO.22.00733. Epub 2022 Jun 15. No abstract available. PMID 35704839
• DERIVEDTurriff AE, Annunziata CM, Malayeri AA, Redd B, Pavelova M, Goldlust IS, Rajagopal PS, Lin J, Bianchi DW. Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer. N Engl J Med. 2024 Dec 5;391(22):2123-2132. doi: 10.1056/NEJMoa2401029. PMID 39774314
• DERIVEDTurriff A, Miner SA, Annunziata CM, Bianchi DW. Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis. Prenat Diagn. 2023 Aug;43(9):1101-1109. doi: 10.1002/pd.6406. Epub 2023 Jul 21. PMID 37409892
• DERIVEDGoldring G, Trotter C, Meltzer JT, Souter V, Pais L, DiNonno W, Xu W, Weitzel JN, Vora NL. Maternal Malignancy After Atypical Findings on Single-Nucleotide Polymorphism-Based Prenatal Cell-Free DNA Screening. Obstet Gynecol. 2023 Apr 1;141(4):791-800. doi: 10.1097/AOG.0000000000005107. Epub 2023 Mar 9. PMID 36897127