TY - JOUR
T1 - Non-invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?
AU - Lannoo, Lore
AU - Lenaerts, Liesbeth
AU - van den Bogaert, Kris
AU - Che, Huiwen
AU - Brison, Nathalie
AU - Devriendt, Koen
AU - Amant, Frédéric
AU - Vermeesch, Joris Robert
AU - van Calsteren, Kristel
N1 - Funding Information: We thank Indra Van Assche for the English language review. This work was supported by the Clinical Board for Research and Education of the University Hospital Leuven (research mandate LLN, project funding KVC) and by research grant from Research Fund Flanders (FWO-Vlaanderen) (G080217?N) (FA and JRV). Funding Information: We thank Indra Van Assche for the English language review. This work was supported by the Clinical Board for Research and Education of the University Hospital Leuven (research mandate LLN, project funding KVC) and by research grant from Research Fund Flanders (FWO‐Vlaanderen) (G080217 N) (FA and JRV). Publisher Copyright: © 2021 John Wiley & Sons Ltd. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/9
Y1 - 2021/9
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85113364115&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/pd.6031
DO - https://doi.org/10.1002/pd.6031
M3 - Review article
C2 - 34405430
SN - 0197-3851
VL - 41
SP - 1264
EP - 1272
JO - Prenatal diagnosis
JF - Prenatal diagnosis
IS - 10
ER -