A Gerede, M Zafrakas, P Papasozomenou, S Papanikolopoulou, A Athanasiadis
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引用次数: 0
Abstract
Background: Trisomy 13 is a chromosomal defect with high prenatal and postnatal mortality that may reach 87 % during the first year of life. More than 90 % of cases of fetuses with trisomy 13 may be detected by first-trimester ultrasound based on severe fetal structural malformations together with increased nuchal translucency thickness.
Case description: We report a case of a fetus with trisomy 13 mosaicism with only anomalous findings on prenatal ultrasound of a single umbilical artery and increased nuchal translucency in the absence of major structural abnormalities.
Conclusion: This case highlights the importance of performing first-trimester fetal ultrasound by specialists in Fetal Medicine to avoid misdiagnosis. Trisomy 13 should be included in the differential diagnosis and prenatal counseling in cases with a single umbilical artery and increased fetal nuchal translucency, even in the absence of major anatomic anomalies. HIPPOKRATIA 2024, 28 (1):38-40.
期刊介绍：
Hippokratia journal is a quarterly issued, open access, peer reviewed, general medical journal, published in Thessaloniki, Greece. It is a forum for all medical specialties. The journal is published continuously since 1997, its official language is English and all submitted manuscripts undergo peer review by two independent reviewers, assigned by the Editor (double blinded review process).
Hippokratia journal is managed by its Editorial Board and has an International Advisory Committee and over 500 expert Reviewers covering all medical specialties and additionally Technical Reviewers, Statisticians, Image processing Experts and a journal Secretary. The Society “Friends of Hippokratia Journal” has the financial management of both the printed and electronic edition of the journal.
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