Francesca Romana Grati1, Jose Ferreira2,3,4, Peter Benn5, Claudia Izzi6, Federica Verdi7, Elena Vercellotti8, Cristina Dalpiaz9, Patrizia D'Ajello8, Elisa Filippi10, Nicola Volpe11, Francesca Malvestiti12, Federico Maggi12, Giuseppe Simoni12, Tiziana Frusca11, Gaetana Cirelli13, Gabriella Bracalente10, Antonino Lo Re9, Daniela Surico8, Tullio Ghi11, Federico Prefumo6. 1. Unit of Research and Development, Cytogenetics and Medical Genetics TOMA, Advanced Biomedical Assays, Impact Lab Group, Busto Arsizio, Varese, Italy. fgrati@tomalab.com. 2. Faculty of Medicine, Eduardo Mondlane University, Maputo, Mozambique. 3. Department of Obstetrics and Gynecology, Maputo Central Hospital, Maputo, Mozambique. 4. Genomed S.A., Warsaw, Poland. 5. Department of Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, CT, USA. 6. UO Diagnosi Prenatale, Azienda Ospedaliera Spedali Civili, Brescia, Italy. 7. Ostetricia e Ginecologia, Ospedale di Bolzano, Bolzano, Italy. 8. Università del Piemonte Orientale, Novara, Italy. 9. UO Ostetricia e Ginecologia, Clinica Pederzoli, Peschiera del Garda, Italy. 10. UOC Ginecologia e Ostetricia, Osp. Cà Foncello Treviso, Treviso, Italy. 11. Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynecology, University of Parma, Parma, Italy. 12. Unit of Research and Development, Cytogenetics and Medical Genetics TOMA, Advanced Biomedical Assays, Impact Lab Group, Busto Arsizio, Varese, Italy. 13. Ostetricia e Ginecologia, Ospedale Santorso AULSS7 Pedemontana (VI), Santorso, Italy.
Abstract
PURPOSE: To assess the association between confined placental mosaicism (CPM) and adverse pregnancy outcome. METHODS: A retrospective cohort study was carried out evaluating the outcome of pregnancies with and without CPM involving a rare autosomal trisomy (RAT) or tetraploidy. Birthweight, gestational age at delivery, fetal growth restriction (FGR), Apgar score, neonatal intensive care admission, preterm delivery, and hypertensive disorders of pregnancy were considered. RESULTS: Overall 181 pregnancies with CPM and 757 controls were recruited. Outcome information was available for 69% of cases (n = 124) and 62% of controls (n = 468). CPM involving trisomy 16 (T16) was associated with increased incidence of birthweight <3rd centile (P = 0.007, odds ratio [OR] = 11.2, 95% confidence interval [CI] = 2.7-47.1) and preterm delivery (P = 0.029, OR = 10.2, 95% CI = 1.9-54.7). For the other RATs, an association with prenatally diagnosed FGR was not supported by birthweight data and there were no other strong associations with adverse outcomes. CONCLUSION: Excluding T16, the incidence of adverse pregnancy outcomes for pregnancies carrying a CPM is low. RATs can also be identified through genome-wide cell-free DNA screening. Because most of these will be attributable to CPMs, we conclude that this screening is of minimal benefit.
PURPOSE: To assess the association between confined placental mosaicism (CPM) and adverse pregnancy outcome. METHODS: A retrospective cohort study was carried out evaluating the outcome of pregnancies with and without CPM involving a rare autosomal trisomy (RAT) or tetraploidy. Birthweight, gestational age at delivery, fetal growth restriction (FGR), Apgar score, neonatal intensive care admission, preterm delivery, and hypertensive disorders of pregnancy were considered. RESULTS: Overall 181 pregnancies with CPM and 757 controls were recruited. Outcome information was available for 69% of cases (n = 124) and 62% of controls (n = 468). CPM involving trisomy 16 (T16) was associated with increased incidence of birthweight <3rd centile (P = 0.007, odds ratio [OR] = 11.2, 95% confidence interval [CI] = 2.7-47.1) and preterm delivery (P = 0.029, OR = 10.2, 95% CI = 1.9-54.7). For the other RATs, an association with prenatally diagnosed FGR was not supported by birthweight data and there were no other strong associations with adverse outcomes. CONCLUSION: Excluding T16, the incidence of adverse pregnancy outcomes for pregnancies carrying a CPM is low. RATs can also be identified through genome-wide cell-free DNA screening. Because most of these will be attributable to CPMs, we conclude that this screening is of minimal benefit.
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