In Reply Dr Sistermans and colleagues recommend that NIPT results of autosomal monosomy not be reported to the patient. First, it is the Illumina clinical laboratory’s policy to report all NIPT results directly to the submitting laboratory or referring health care clinician, not the patient. Second, we think there is clinical utility in reporting autosomal monosomy. In response to the letter, we reviewed a clinical database containing more than 113 000 sequential cases and found 65 reported cases (0.06%) of single autosomal monosomy. We have follow-up clinical or karyotype information on 27 cases (41.5%).
Halks-Miller M, Chudova D, Bianchi DW. Maternal Malignancies Detected With Noninvasive Prenatal Testing—Reply. JAMA. 2015;314(20):2192-2193. doi:10.1001/jama.2015.12925