Pregnancy course and outcomes in mosaic trisomy 16 confined to the placenta: A case series

Donato, Xavier-Côme; Bréchard, Marie-Pierre; François-Renard, Pauline; Hairion, D.; Quarello, E.; Hoffet, M.; Katsogiannou, Maria; Desbrière, Raoul

doi:10.1002/pd.5357

Cited by 8 publications

(4 citation statements)

References 15 publications

(27 reference statements)

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“…CPM trisomy 16 has been held responsible for the majority of the adverse pregnancy outcomes in CPM pregnancies 26,31 . This study confirms the clinical impact of CPM trisomy 16.…”

Section: Discussionsupporting

confidence: 77%

“…CPM trisomy 16 has been held responsible for the majority of the adverse pregnancy outcomes in CPM pregnancies. 26,31 This study confirms the clinical impact of CPM trisomy 16. It also shows that when CPM trisomy 16 is excluded, one third of the pregnancies with CPM still are complicated with FGR and one fifth has a BW < p10, which is in line with a large meta-analysis.…”

Section: Cpmsupporting

confidence: 77%

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The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study

Eggenhuizen,

Go,

Sauter

et al. 2024

Prenatal Diagnosis

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ObjectiveTo 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.MethodsCohort study using routinely collected perinatal data and cytogenetic data of non‐invasive prenatal testing, the first trimester chorionic villi sampling and postnatal placentas.Results215 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.ConclusionThere 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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“…CPM trisomy 16 has been held responsible for the majority of the adverse pregnancy outcomes in CPM pregnancies 26,31 . This study confirms the clinical impact of CPM trisomy 16.…”

Section: Discussionsupporting

confidence: 77%

Section: Cpmsupporting

confidence: 77%

The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study

Eggenhuizen,

Go,

Sauter

et al. 2024

Prenatal Diagnosis

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“…Our results suggest that other genetic syndromes presenting with a CP phenotype may also be associated with low levels of PAPP‐A in pregnancy. In addition to being associated with trisomy 21, low PAPP‐A levels have been observed in association with other genetic syndromes such as Cornelia de Lange syndrome 32 and mosaic trisomy 16 33 . Our results suggest that other genetic syndromes presenting with a CP phenotype may also be associated with low pregnancy PAPP‐A levels.…”

Section: Discussionsupporting

confidence: 57%

First‐trimester maternal serum biomarkers and the risk of cerebral palsy

Peris

Reid

Dobie

et al. 2020

Develop Med Child Neuro

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ABBREVIATIONS cFTS Combined first-trimester screening MoM Multiple of the median PAPP-A Pregnancy-associated plasma protein-A b-hCG Beta subunit of human chorionic gonadotrophin AIM To investigate whether combined first-trimester screening (cFTS) biomarkers are associated with cerebral palsy (CP) and to identify CP characteristics associated with abnormal biomarker levels. METHOD In this retrospective case-control data linkage study, we matched mothers of 435 singletons with CP from a population register to their cFTS records and selected 10 singleton pregnancy controls per case. We compared mean and abnormal levels (expressed as multiples of the median [MoMs]) of pregnancy-associated plasma protein-A (PAPP-A), beta subunit of human chorionic gonadotrophin (b-hCG), and nuchal translucency between cases and controls and between CP subgroups. RESULTS Compared with control pregnancies, CP pregnancies had lower mean levels of PAPP-A (0.95 vs 1.01 MoM, p=0.02) and b-hCG (0.93 vs 0.99 MoM, p=0.02). Biomarker levels in CP pregnancies were 1.8 times more likely to be associated with abnormally low levels of PAPP-A (p<0.01), 1.4 times for b-hCG (p=0.12), and 2.6 times for low PAPP-A and b-hCG together (p=0.04). In cases with CP, an abnormally low PAPP-A level was associated with moderate preterm birth, low Apgar scores, and Gross Motor Function Classification System level V. Low b-hCG was associated with very low birthweight.

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“…The risk scores for each mosaic aneuploidy rely on the likelihood that the mosaic aneuploidy is also present in the fetus and that it results in clinically significant fetal UPD. However, placenta-specific manifestations of aneuploidy may also be a risk factor for pregnancy complications [ 224 ]. Thus, information about the placenta-specific manifestations of aneuploidy may be important for the decision on the transfer of mosaic embryos.…”

Section: Stem Cell-based Studies Of Chromosomal Aneuploidy and Mosaic...mentioning

confidence: 99%

Stem Cell-Based Trophoblast Models to Unravel the Genetic Causes of Human Miscarriages

Nikitina

Lebedev

2022

Cells

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Miscarriage affects approximately 15% of clinically recognized pregnancies, and 1–3% of couples experience pregnancy loss recurrently. Approximately 50–60% of miscarriages result from chromosomal abnormalities, whereas up to 60% of euploid recurrent abortions harbor variants in candidate genes. The growing number of detected genetic variants requires an investigation into their role in adverse pregnancy outcomes. Since placental defects are the main cause of first-trimester miscarriages, the purpose of this review is to provide a survey of state-of-the-art human in vitro trophoblast models that can be used for the functional assessment of specific abnormalities/variants implicated in pregnancy loss. Since 2018, when primary human trophoblast stem cells were first derived, there has been rapid growth in models of trophoblast lineage. It has been found that a proper balance between self-renewal and differentiation in trophoblast progenitors is crucial for the maintenance of pregnancy. Different responses to aneuploidy have been shown in human embryonic and extra-embryonic lineages. Stem cell-based models provide a powerful tool to explore the effect of a specific aneuploidy/variant on the fetus through placental development, which is important, from a clinical point of view, for deciding on the suitability of embryos for transfer after preimplantation genetic testing for aneuploidy.

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Pregnancy course and outcomes in mosaic trisomy 16 confined to the placenta: A case series

Cited by 8 publications

References 15 publications

The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study

The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study

First‐trimester maternal serum biomarkers and the risk of cerebral palsy

Stem Cell-Based Trophoblast Models to Unravel the Genetic Causes of Human Miscarriages

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