An incidental finding of maternal multiple myeloma by non invasive prenatal testing

Prenat Diagn. 2017 Dec;37(12):1257-1260. doi: 10.1002/pd.5168. Epub 2017 Nov 28.

¹ Medical Genetics and Cytogenetics Department, Carémeau University Hospital Center, Nîmes, France.
² Medical Genetics and Cytogenetics Department, University Hospital Center, Montpellier, France.
³ Hematology Department, Mercy Hospital Center of Metz-Thionville, Metz, France.
⁴ Cytogenetics Department, Mercy Hospital Center of Metz-Thionville, Metz, France.
⁵ Multidisciplinary Prenatal Diagnosis Department, Carémeau University Hospital Center, Nîmes, France.
⁶ Biology and Immunology Department, Carémeau University Hospital Center, Nîmes, France.
⁷ Clinical Hematology Department, Carémeau University Hospital Center, Nîmes, France.
⁸ Department of Human Genetics, Center for Human Genetics, and Department of Hematology, University Hospitals Leuven, Leuven, Belgium.

Abstract

What is already known about this subject?

Non invasive prenatal testing for fetal trisomies 13, 18, and 21 occasionally identifies maternal cancer.

What does this study add?

A further case of maternal cancer incidentally diagnosed by routine NIPT.
Extensive NIPT abnormalities are unlikely to be of fetal origin.
Information given to patients should also adequately advise patients on potential incidental findings and might offer the option to opt out of receiving results beyond the trisomy report.
International guidelines would improve patient counseling.