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, A Athanasiadis

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Article in Hippokratia. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 authors.

A GeredePractice for Prenatal Diagnosis, Kavala, Greece.

M ZafrakasSchool of Health Science, Department of Midwifery, International Hellenic University, Thessaloniki, Greece.

P PapasozomenouSchool of Health Science, Department of Midwifery, International Hellenic University, Thessaloniki, Greece.

S PapanikolopoulouDepartment of Obstetrics & Gynecology, 424 General Military Hospital of Thessaloniki, Greece.

A Athanasiadis3 Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Greece.

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6 · The paper itself

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.

Indexed as

early prenatal diagnosisnuchal translucencysingle umbilical arteryTrisomy 13ultrasonography

Identifiers

PMID39399405

PMCPMC11466108

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