Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?

Abstract

Cancer is diagnosed in one in 1000 to 1500 pregnancies. Most frequently encountered malignancies during pregnancy are breast cancer, hematological cancer, cervical cancer and malignant melanoma. Maternal cancer is associated with an increased risk of IUGR and preterm labor, especially in patients with systemic disease or those receiving chemotherapy during pregnancy, requiring a high‐risk obstetrical follow‐up. Fetal aneuploidy screening by non‐invasive prenatal testing (NIPT) can lead to the incidental identification of copy number alterations derived from non‐fetal cell‐free DNA (cfDNA), as seen in certain cases of maternal malignancy. The identification of tumor‐derived cfDNA requires further clinical, biochemical, radiographic and histological investigations to confirm the diagnosis. In such cases, reliable risk estimation for fetal trisomy 21, 18 and 13 is impossible. Therefore, invasive testing should be offered when ultrasonographic screening reveals an increased risk for chromosomal anomalies, or when a more accurate test is desired. When the fetal karyotype is normal, long term implications for the fetus refer to the consequences of the maternal disease and treatment during pregnancy. This manuscript addresses parental questions when NIPT suggests a maternal malignancy. Based on current evidence and our own experience, a clinical management scheme in a multidisciplinary setting is proposed.

Pushing the boundaries. Concurrent Hodgkin lymphoma and breast cancer treatment with preservation of pregnancy: A case report

“…The NIPT is used for the detection of fetal aneuploidies and analyze cell-free DNA (cfDNA) circulating in maternal plasma. In cancer patients, part of the cell-free DNA originates from the tumor and a majority of cancers are characterized by chromosomal copy number alterations, which can be detected by genome-wide sequencing NIPT ( Lenaerts et al, 2021 , Lannoo et al, 2021 ). Aberrant NIPT-results may reveal an occult maternal malignancy in asymptomatic patients ( Amant et al, 2015 ).…”

In Vitro Analysis of Biological Activity of Circulating Cell-Free DNA Isolated from Blood Plasma of Schizophrenic Patients and Healthy Controls—Part 2: Adaptive Response

“…The total cfDNA content and the concentration of its specific fragments are markers of the body’s status. The cfDNA content substantially increases in case of pregnancy pathology, tumor, critical state, affective or physical stress, and during intensive physical loads [ 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 ]. The cfDNA is also elevated in mental disorders, in particular in schizophrenia patients [ 16 , 17 , 18 , 19 ].…”

Non-Invasive Prenatal Diagnosis of Single Gene Disorders with enhanced Relative Haplotype Dosage Analysis for diagnostic implementation

“…The occurrence of an abnormal profile of our density plot of MAF for fetal fraction estimation may be suggestive of a maternal underlying disorder. To date, disclosure of results suggesting maternal malignancy remains controversial, 41,42 but the possibility of maternal incidental findings during cfDNA analysis should be mentioned during pretest counseling.…”