Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta

Eggenhuizen, G.M.; van Veen, S.; van Koetsveld, N.; Go, A.T.J.I.; Diderich, K.E.M.; Joosten, M.; van den Born, M.; Srebniak, M.I.; Van Opstal, D.

doi:10.1016/j.placenta.2024.06.008

Placenta

2024

DOI: 10.1016/j.placenta.2024.06.008

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Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta

G.M. Eggenhuizen,

S. van Veen,

N. van Koetsveld

et al.

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2024

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Cited by 1 publication

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Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?

Eggenhuizen,

Go,

Hoffer

et al. 2024

Prenatal Diagnosis

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ObjectiveConfined placental mosaicism (CPM) is associated with an increased risk for pregnancy complications, such as fetal growth restriction (FGR), preterm birth and hypertensive disorders. Pregnancies with possible CPM can be identified with non‐invasive prenatal testing (NIPT). We performed a retrospective cohort study to investigate whether the mosaic ratio, as calculated with the Veriseq v2 used for NIPT, can predict adverse pregnancy outcomes in cases of CPM.MethodA mosaic ratio for trisomies detected by NIPT and obstetric data such as fetal growth, structural fetal anomalies and birthweight were retrospectively studied in a cohort of patients with CPM diagnosed between February 2021 and October 2023. Structural and sex chromosomal aberrations were not included in this study.ResultsOf 122 CPM cases, 52 cases (42.6%) showed adverse perinatal outcomes, including FGR, low birthweight, hypertensive disorders, or preterm birth. A significantly higher mosaic ratio was found in the adverse outcome group compared to those with normal outcome, but a clear‐cut threshold could not be set, except potentially for trisomy 16.ConclusionThere is an association between the mosaic ratio and adverse pregnancy outcomes in cases of CPM. However, without a clear‐cut threshold, it cannot be used for the individual patient for differentiation between CPM with and without clinical consequences.

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Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?

Eggenhuizen,

Go,

Hoffer

et al. 2024

Prenatal Diagnosis

View full text Add to dashboard Cite

show abstract

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Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta

Cited by 1 publication

References 31 publications

Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?

Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?

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