Journal Article

Noninvasive Prenatal Testing and Detection of Occult Maternal Malignancies

Jatsenko, Tanja, Lenaerts, Liesbeth, Robert Vermeesch, Joris, Amant, Frédéric

2019

Overview

Since the introduction of noninvasive prenatal testing (NIPT)7 in prenatal diagnostics in 2011, incidental findings of an occult maternal malignancy following a \"falsepositive\" NIPT test have been reported repeatedly. [...]proper identification of cancer through routine NIPT screening would have a major effect on the management of these pregnant women. Because lymphomas are the most frequently detected tumor type before breast cancer following an aberrant NIPT outcome, whole-body MRI examination should be complemented with the analysis of hematological parameters (such as cell counts and cytology and clinical biochemistry) to search for the presence of a hematological malignancy that might not be detectable via MRI scanning. [...]vitamin B12 or folate deficiency or the presence of autoimmune diseases such as systemic lupus erythematosus might also lead to an abnormal NIPT result, although the profile of chromosomal imbalances found in these conditions might be discriminated from typical cancer-like CNAs.

• Publisher: Oxford University Press
• Subject: Algorithms / Autoimmune diseases / Biomarkers / Breast cancer / Cancer therapies / Cell-Free Nucleic Acids - genetics / Chronic conditions / Cytology / Female / Folic acid / Genetic Testing / Hematology / Humans / Identification / Incidental Findings / Lymphoma / Magnetic resonance imaging / Malignancy / Neoplasms - diagnosis / Neoplasms - genetics / Neoplasms, Unknown Primary - genetics / Noninvasive Prenatal Testing - methods / Noninvasive Prenatal Testing - trends / Pipelines / Plasma / Pregnancy / Prenatal Diagnosis / Systemic lupus erythematosus / Tumors / Vitamin B12 / Vitamin deficiency / Womens health