Abstract

To evaluate which cytogenetic characteristics of confined placental mosaicism (CPM) detected in the first trimester chorionic villi and/or placentas in terms of chromosome aberration, cell lineage involved and trisomy origin will lead to fetal growth restriction and low birthweight. Cohort study using routinely collected perinatal data and cytogenetic data of non-invasive prenatal testing, the first trimester chorionic villi sampling and postnatal placentas. 215 CPM cases were found. Fetal growth restriction (FGR) and low birthweight below the 10th percentile (BW<p10) were seen in 34.0% and 23.1%, respectively. Excluding cases of trisomy 16, 29.1% showed FGR and 17.9% had a BW<p10. The highest rate of FGR and BW<p10 was found in CPM type 3, but differences with type 1 and 2 were not significant. FGR and BW<p10 were significantly more often observed in cases with meiotic trisomies. There is an association between CPM and FGR and BW<p10. This association is not restricted to trisomy 16, neither to CPM type 3, nor to CPM involving a meiotic trisomy. Pregnancies with all CPM types and origins should be considered to be at increased risk of FGR and low BW<p10. A close prenatal fetal monitoring is indicated in all cases of CPM.

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