The delivery of copper to mammary gland and milk and the effects of lactation were examined in rats. Traces of (67)Cu/(64)Cu(II) were injected intraperitoneally or intravenously into virgin rats or lactating rats (2-5 days postpartum), and incorporation into blood, milk, and tissues was monitored. In virgin rats, most of the isotope first entered the liver and kidney. In lactating rats, almost 60% went directly to the mammary gland. Uptake rates and copper contents of the mammary gland were 20-fold higher in lactation. (67)Cu/(64)Cu appeared in milk and milk ceruloplasmin as rapidly as in mammary tissue and when there was no (67)Cu/(64)Cu-ceruloplasmin in the maternal plasma. Plasma (125)I-labeled albumin entered milk much more slowly. Milk ceruloplasmin (10 mg/l) had 25% of the (67)Cu/(64)Cu. Milk copper was 3.3 mg/l. Thus lactation markedly enhances the avidity of the mammary gland for copper, diverting most of it from liver and kidney to that tissue. Also, the primary source of milk ceruloplasmin is the mammary gland and not the maternal plasma.

Key Points cfDNA sequencing for fetal aneuploidy may detect chromosomal abnormalities representative of maternal malignancy. Maternal malignancy must be considered when abnormal cfDNA sequencing for fetal aneuploidy is associated with normal fetal karyotype.

What's already known about this topic? Prenatal cell‐free (cfDNA) screening has been validated to detect fetal copy number variations (CNVs), depending upon CNV size and sequencing depth. Emerging evidence suggests that it can also accurately detect maternal CNVs.What does this study add? This case report underscores the clinical significance of maternal CNVs detected incidentally during cfDNA screening. © 2017 John Wiley & Sons, Ltd.

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