• Hippokratia · Jan 2024

    Case Reports

    A rare case of trisomy 13 mosaicism with only findings on first-trimester ultrasound single umbilical artery and increased nuchal translucency.

    • A Gerede, M Zafrakas, P Papasozomenou, S Papanikolopoulou, and A Athanasiadis.
    • Practice for Prenatal Diagnosis, Kavala, Greece.
    • Hippokratia. 2024 Jan 1; 28 (1): 384038-40.

    BackgroundTrisomy 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 DescriptionWe 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.ConclusionThis 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.Copyright 2024, Hippokratio General Hospital of Thessaloniki.

      Pubmed     Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?
    300 characters remaining
    help        
    You can also include formatting, links, images and footnotes in your notes
    • Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.
    • Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.
    • Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.
    • Links can be included with: [my link to pubmed](http://pubmed.com)
    • Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
    • For footnotes use [^1](This is a footnote.) inline.
    • Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..

    hide…