Cathrine Vedel, Richard Farlie, Laura Vase, Lise Hald Nielsen, Ann Nygaard Jensen, Sidsel Svennekjaer Barken, Karina Hjort-Pedersen, Olav Bjørn Petersen
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引用次数: 0
Abstract
Objective: To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st-trimester screening for aneuploidies.
Method: A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022. We retrieved all cases from patient files, where we searched for "PRUV" in the conclusion field. All retrieved cases were manually assessed to determine if PRUV was present, associated anomalies were present, and genetic tests were performed including results. Additional data on postnatal genetics were retrieved from the Danish Cytogenetic Central Registry.
Results: A total of 262 cases with PRUV were retrieved, of which 19 (7.3%) had associated malformations. Among the isolated cases, 119 (49.0%) had a prenatal invasive genetic test that consisted of CMA, and 5 cases had an NIPT (2.1%): All tests were normal or showed low risk for aneuploidies, respectively. None of the children born with PRUV had a postnatal genetic test performed.
Conclusion: We found no chromosomal aberrations in fetuses with isolated or non-isolated PRUVs. Isolated PRUV does not seem associated with a higher incidence of chromosomal aberrations, so parents can be reassured. However, since PRUV was associated with other malformations in 7% of cases, thorough scans are needed.
期刊介绍：
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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