Cell-free DNA Screening and Maternal Cancer

In 2013, I, along with other investigators, described a healthy woman with an uncomplicated pregnancy who was referred to maternal fetal medicine and genetic counseling because she received positive results for trisomy 13 and monosomy 18 through a screening assay of cell-free DNA (cfDNA) obtained from a blood sample.1 These results were difficult to explain because the ultrasound showed a structurally normal fetus. An amniocentesis was performed to obtain fetal cells for genetic testing. The results of the fetal karyotype and chromosomal microarray analysis were normal. The pregnancy continued uneventfully and resulted in a normal vaginal delivery of a healthy . . .