Reply: The missing role of diagnosis of confined placental mosaicism in the management of fetal growth restriction

Eggenhuizen, Geerke M.; Go, Attie T.J.I.; Galjaard, R. J. H.

doi:10.1093/humupd/dmab033

Cited by 1 publication

(1 citation statement)

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“…Our results may not be applicable for hospitals where cultured CVS is the reference standard, since cfNIPT is believed to be most comparable to direct (uncultured) CVS. However, a recent study shows that there is no significant difference in adverse outcome between CPM type 3 versus CPM type 2 and 1 29 . Thirdly, we cannot rule out that a different cfNIPT platform compared to the one we used in the present study would change the detection rate of mosaicism by cfNIPT.…”

Section: Discussionmentioning

confidence: 68%

Use of cell‐free non‐invasive prenatal testing in pregnancies affected by placental mosaicism

Lund,

Becher,

Lildballe

et al. 2024

Prenatal Diagnosis

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ObjectiveTo evaluate cell‐free non‐invasive prenatal testing (cfNIPT) in pregnancies affected by mosaicism.MethodWe assessed paired cfNIPT and chorionic villus sample (CVS) results from the same pregnancies in a case series of mosaicism detected in Central and North Denmark Regions from April 2014 to September 2018. Indications for the clinically obtained CVS, pregnancy markers and outcome were retrieved from The Danish Fetal Medicine Database.ResultsMosaicisms in CVS involved common aneuploidy, n = 14; sex chromosomal aneuploidies, n = 14; rare autosomal trisomies (RATs), n = 16 and copy number variants (CNVs) >5Mb, n = 9. Overall, 24/53 (45.3%; CI 95%: 31.8%–59.4%) of cases with mosaicism were detected by cfNIPT; highest for RATs (56%) and lowest for CNVs (22%). CfNIPT more commonly detected high‐level than low‐level mosaic cases (p = 0.000). CfNIPT detected 7/16 (43.8%; CI 95%: 21%–69%) clinically significant mosaic cases, either true fetal mosaicism or confined placental mosaicisms with adverse pregnancy outcome. There was a trend toward a higher risk for adverse outcome in pregnancies where mosaicism was detected by cfNIPT compared to pregnancies where mosaicism was not detected by cfNIPT (p = 0.31).ConclusionCfNIPT has a low detection rate of mosaicism, including pregnancies with clinically significant mosaicism. However, abnormal cfNIPT results may be a predictor of adverse pregnancy outcomes.

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Section: Discussionmentioning

confidence: 68%