Objective: The aim of this study was to present and investigate fetal cases with hand anomalies by discussing their antenatal and postmortem findings.
Materials and Methods: This retrospective review re-evaluates fetal cases identified antenatally with hand anomalies including polydactyly, syndactyly, reduction defects, and oligodactyly. The following data were collected from the patients’ medical records: Demographic information, family histories, X-ray images, photographs, and cytogenetic/molecular findings. The study also performed a chromosome analysis, array-comparative genomic hybridization (CGH), and Sanger sequencing of FGFR2 and GLI3 genes.
Results: This study involved 18 cases with hand anomalies, all of which were diagnosed antenatally. Three cases were diagnosed with Greig cephalopolysyndactyly, Apert Syndrome, and triploidy, respectively.
Conclusions: Fetal ultrasonography is the most valuable tool for providing prenatal diagnosis. Prenatal detection of hand anomalies causes great anxiety for parents; therefore, making an accurate diagnosis list is important for the prenatal period. Prenatal diagnosis and management of hand anomalies must involve a multidisciplinary team composed of a perinatologist, a clinical geneticist, and a hand surgeon.
Birincil Dil | İngilizce |
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Konular | Klinik Tıp Bilimleri |
Bölüm | Araştırma Makalesi |
Yazarlar | |
Yayımlanma Tarihi | 31 Aralık 2022 |
Gönderilme Tarihi | 17 Ekim 2022 |
Yayımlandığı Sayı | Yıl 2022 |