Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach
<i>Background and Objectives:</i> Silver–Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizin...
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MDPI AG
2025-01-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1648-9144/61/1/145 |
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| author | Slavyana Galeva Giuliana Diglio Boris Stoilov Ekaterina Uchikova Lucian Pop |
| author_facet | Slavyana Galeva Giuliana Diglio Boris Stoilov Ekaterina Uchikova Lucian Pop |
| author_sort | Slavyana Galeva |
| collection | DOAJ |
| description | <i>Background and Objectives:</i> Silver–Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS. <i>Materials and Methods:</i> A 28-year-old primigravida presented for routine first-trimester prenatal care. An ultrasound revealed asymmetric growth restriction with normal anatomical findings. The first-trimester biochemical markers, including PAPP-A and β-hCG, were within the normal range. A further evaluation, including amniocentesis and genetic testing, was performed. <i>Results:</i> Genetic testing identified hypomethylation at the 11p15 imprinting control region, confirming the diagnosis of SRS. Parental testing excluded the maternal uniparental disomy of chromosome 7, suggesting an epigenetic mechanism. The findings were consistent with a clinical diagnosis of SRS, and appropriate counseling and multidisciplinary management were initiated. <i>Conclusions:</i> This case underscores the importance of the early recognition of atypical growth patterns, the integration of advanced genetic testing, and multidisciplinary counseling to guide parental decision-making and improve outcomes. |
| format | Article |
| id | doaj-art-2a34ce20ae124d6eb36414d7fa124d2a |
| institution | Kabale University |
| issn | 1010-660X 1648-9144 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
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| series | Medicina |
| spelling | doaj-art-2a34ce20ae124d6eb36414d7fa124d2a2025-01-24T13:40:50ZengMDPI AGMedicina1010-660X1648-91442025-01-0161114510.3390/medicina61010145Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic ApproachSlavyana Galeva0Giuliana Diglio1Boris Stoilov2Ekaterina Uchikova3Lucian Pop4Sheynovo Hospital, 1504 Sofia, BulgariaFaculty of Medicine, Sofia University, 1504 Sofia, BulgariaDepartment of Obstetrics and Gynecology, Medical University of Plovdiv, 4002 Plovdiv, BulgariaDepartment of Obstetrics and Gynecology, Medical University of Plovdiv, 4002 Plovdiv, BulgariaDepartment of Obstetrics and Gynecology, Alessandrescu-Rusescu National Institute for Mother and Child Health, 20382 Bucharest, Romania<i>Background and Objectives:</i> Silver–Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS. <i>Materials and Methods:</i> A 28-year-old primigravida presented for routine first-trimester prenatal care. An ultrasound revealed asymmetric growth restriction with normal anatomical findings. The first-trimester biochemical markers, including PAPP-A and β-hCG, were within the normal range. A further evaluation, including amniocentesis and genetic testing, was performed. <i>Results:</i> Genetic testing identified hypomethylation at the 11p15 imprinting control region, confirming the diagnosis of SRS. Parental testing excluded the maternal uniparental disomy of chromosome 7, suggesting an epigenetic mechanism. The findings were consistent with a clinical diagnosis of SRS, and appropriate counseling and multidisciplinary management were initiated. <i>Conclusions:</i> This case underscores the importance of the early recognition of atypical growth patterns, the integration of advanced genetic testing, and multidisciplinary counseling to guide parental decision-making and improve outcomes.https://www.mdpi.com/1648-9144/61/1/145Silver–Russell Syndromeprenatal diagnosisasymmetric growth restrictionfirst-trimester screeninggenetic testinghypomethylation |
| spellingShingle | Slavyana Galeva Giuliana Diglio Boris Stoilov Ekaterina Uchikova Lucian Pop Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach Medicina Silver–Russell Syndrome prenatal diagnosis asymmetric growth restriction first-trimester screening genetic testing hypomethylation |
| title | Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach |
| title_full | Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach |
| title_fullStr | Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach |
| title_full_unstemmed | Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach |
| title_short | Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach |
| title_sort | prenatal detection of silver russell syndrome a first trimester suspicion and diagnostic approach |
| topic | Silver–Russell Syndrome prenatal diagnosis asymmetric growth restriction first-trimester screening genetic testing hypomethylation |
| url | https://www.mdpi.com/1648-9144/61/1/145 |
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