Genetics of mitral valve prolapse and its clinical impact
Fetal Growth Restriction And Genetic Syndromes In Fetuses With PRUV
Photo Credit: jeffhochstrasser
The following is a summary of "Role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes," published in the December 2024 issue of Obstetrics and Gynecology by Dizdaroğulları et al.
A persistent right umbilical vein (PRUV) is an embryonic vascular anomaly that may be associated with genetic syndromes and additional malformations. While recent studies suggest a low risk of aneuploidy in isolated PRUV cases, the potential for genetic abnormalities and other complications remains necessary for clinical monitoring.
Researchers conducted a retrospective study to assess the relationship between PRUV and genetic abnormalities.
They reviewed pregnancies diagnosed with PRUV at the hospital from 2017 to 2022, including 41 cases, and analyzed associated malformations and genetic findings.
The results showed 26 (63.4%) of the fetuses had additional ultrasound findings, with fetal growth restriction being the most common (15 fetuses, 36.5%), followed by cardiovascular anomalies in 8 (19.5%). Additionally, genetic abnormalities were detected in 5 (12.1%) of the fetuses, including Down syndrome in 2 (4.8%), nail-patella syndrome in 1 (2.4%), duplication of chromosome 7p in 1 (2.4%), and Potocki-Lupski syndrome in 1 (2.4%).
They concluded that genetic syndromes and growth impairments may coexist with PRUV, and these pregnancies require close monitoring and further studies.
Source: obgyn.Onlinelibrary.Wiley.Com/doi/abs/10.1111/jog.16175
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