u/Thesleepingtoad

Panorama atypical finding (chromosome 18, suspected maternal origin)
▲ 1 r/NIPT

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.

u/Thesleepingtoad — 1 day ago