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December 18, 2025Prenatal DiagnosisOpen Access

Prenatal Diagnosis of Verheij Syndrome Associated With PUF60 Variants Presented With Ventricular Septal Defect and Scoliosis Identified by First Trimester Ultrasound

Ru Li Li Zhen Qiuxia Yu Shuyu Li Dong‐Zhi Li

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Key Points

The research aims to explore prenatal diagnosis of Verheij syndrome related to PUF60 variants.
Identified cases through first trimester ultrasound.
Conducted genetic testing for PUF60 variants in suspected cases.
Evaluated the occurrence of associated conditions like ventricular septal defect and scoliosis.
Successfully diagnosed Verheij syndrome with PUF60 variants during the first trimester.
Detected scoliosis and ventricular septal defects as key manifestations.

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Implication

Prenatal diagnosis identifies scoliosis and ventricular septal defect in Verheij syndrome, suggesting early intervention is crucial.

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Cite This Study

Li et al. (2025) studied this question.

synapsesocial.com/papers/6945e93b5151ab1219e4d7e3 https://doi.org/10.1002/pd.70057

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders2024 · 8 citations
2Prenatal Diagnosis of White–Sutton Syndrome Associated With Autosomal Dominant <i>POGZ</i> Variants Presented With Craniofacial Abnormalities and Borderline Microcephaly Identified in the Second TrimesterOriginal Research · 2026
3Prenatal Diagnosis of Bachmann‐Bupp Syndrome Associated With an <i>ODC1</i> Variant Presented With Macrocephaly and Ventricular Septal Defect Identified by Second Trimester UltrasoundOriginal Research · 2026
4Prenatal diagnosis of pulmonary atresia with intact ventricular septum: a single-center study in Chinacohort · 2025 · 3 citations
5Genetic etiology analysis of 244 fetal ventricular septal defect in the prenatal setting2024

More related papers

Fetal Phenotype and Diagnosis of Treacher Collins Syndrome Due to a Novel <i>POLR1D</i> Variant2025
Identification of a de novo <i>PUF60</i> variant associated with craniofacial microsomia2024
A Case Report of Verheij Syndrome2024

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