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Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein-A Nationwide Study
Cathrine Vedel1,2, Richard Farlie3, Laura Vase4
1Center for Fetal Medicine and Pregnancy, Department of Gynecology, Fertility, and Pregnancy, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Prenatal Diagnosis
|January 27, 2025
Summary
Isolated PAPP-A R-wave (PRUV) in fetuses does not appear linked to chromosomal abnormalities. This finding can reassure parents, though further scans are advised due to potential associated malformations.
Area of Science:
- Prenatal diagnostics
- Fetal medicine
- Genetics
Background:
- Isolated PAPP-A R-wave (PRUV) is a finding during first-trimester screening.
- The association between PRUV and chromosomal aberrations requires further investigation.
Purpose of the Study:
- To determine the prevalence of chromosomal aberrations in fetuses with isolated PRUV.
- To evaluate the diagnostic yield of genetic testing in these cases.
Main Methods:
- Retrospective nationwide cohort study (2010-2022).
- Inclusion of all pregnancies with PRUV, assessing associated anomalies and genetic test results (CMA, NIPT).
- Utilized Danish Cytogenetic Central Registry for postnatal data.
Main Results:
- 262 PRUV cases identified; 7.3% had associated malformations.
- In isolated PRUV cases, 49% underwent CMA, and 2.1% had NIPT, with all tests showing normal or low-risk results.
- No postnatal genetic testing was performed on children born with PRUV.
Conclusions:
- No chromosomal aberrations were detected in fetuses with isolated or non-isolated PRUV.
- Isolated PRUV is not associated with an increased incidence of chromosomal aberrations, offering reassurance to parents.
- Given that 7% of PRUV cases had associated malformations, thorough fetal scans remain essential.
