Fetal Diagnosis and Therapy
Hydrops Fetalis, Thickened Placenta and Other Sonographic Findings in a Low-Level Trisomy 21 Mosaicism: A Case ReportSifakis S.a · Koukoura O.a · Mantas N.a · Velissariou V.b · Koumantakis E.aaDepartment of Obstetrics and Gynecology, University Hospital of Heraklion, Heraklion, and bDepartment of Genetics and Molecular Biology, Mitera Hospital, Athens, Greece
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Article / Publication Details
Received: December 27, 2006
Accepted: July 16, 2007
Published online: October 03, 2008
Issue release date: October 2008
Number of Print Pages: 3
Number of Figures: 2
Number of Tables: 0
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
Abstract
We report a case of trisomy 21 mosaicism detected upon amniocentesis in a 36-year-old woman. Ultrasound examination at 23weeks’ gestation showed a fetus with hydrops, pulmonary hypoplasia, oligohydramnios, thickened placenta, and intrauterine growth retardation. Cytogenetic analysis revealed low-percentage (6%) mosaicism for trisomy 21. Hydrops fetalis and thickened placenta are uncommon findings in fetuses affected by trisomy 21 mosaicism. A short review of the literature is given regarding the sonographic findings associated with trisomy 21 mosaicism, and the genetic counseling in such cases.
© 2008 S. Karger AG, Basel
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References
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Article / Publication Details
Received: December 27, 2006
Accepted: July 16, 2007
Published online: October 03, 2008
Issue release date: October 2008
Number of Print Pages: 3
Number of Figures: 2
Number of Tables: 0
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
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