
Panorama atypical finding (chromosome 18, suspected maternal origin)
11w3d. Panorama NIPT came back today with an “atypical finding involving chromosome 18.” The report states that the finding “appears to be a CNV (copy number variant) that could be a duplication” and is “suspected to be of maternal origin.” No risk assessment was provided for T21, T18, T13, monosomy X, triploidy, fetal sex, or fetal fraction (everything is listed as N/A / No Result).
I am currently waiting to hear from my OB and expect a referral to genetics/MFM, but in the meantime I am trying to understand what this result might mean.
One thing that has me wondering: during my previous pregnancy (healthy daughter), a different screening test also flagged an increased risk for trisomy 18, which ultimately turned out to be a false positive. Given that history, could a maternal CNV or some other maternal chromosomal finding potentially explain both results?
Has anyone received a similar Panorama result with “suspected maternal origin”? If so:
What follow-up testing was recommended?
Did you end up having maternal microarray/karyotype testing?
Was the finding ultimately maternal, placental, fetal, or benign?
Did you proceed with CVS or amnio?
I know nobody can interpret my specific result from a screenshot, but I would really appreciate hearing from anyone who has been through something similar or from genetics professionals familiar with these atypical Panorama findings.