| Management of prenatally detected trisomy 8 mosaicism. | |
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MedLine Citation:
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PMID: 11746167 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on ten pregnancies with trisomy 8 mosaicism. Nine cases were prenatally detected in chorionic villi (n=6), amniotic fluid (AF) cells (n=2) or fetal blood (FB) lymphocytes (n=1). Follow-up laboratory investigations showed confined placental mosaicism (CPM) or pseudomosaicism in eight cases. In one case with ultrasound abnormalities, trisomy 8 mosaicism was detected in FB cells although cultured AF cells showed normal cells only. Another case of mosaic trisomy 8 was prenatally missed; cytogenetic analysis of short-term cultured villi revealed a normal male karyotype, while postnatally, trisomy 8 mosaicism was detected in peripheral blood lymphocytes and skin fibroblasts of the affected child. These findings indicate the difficulties in the prenatal diagnosis of trisomy 8 mosaicism. When found in chorionic villi, it mostly represented CPM, while in a case of true fetal trisomy 8 mosaicism, the cytotrophoblast cells showed a normal karyotype. So, the cytotrophoblast compartment of chorionic villi is a poor indicator of the presence or absence of fetal trisomy 8 mosaicism. Follow-up investigations including amniocentesis and especially fetal blood sampling are required to come to a definite prenatal diagnosis of trisomy 8 mosaicism. |
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Authors:
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M M van Haelst; D Van Opstal; D Lindhout; F J Los |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 21 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 2001 Dec |
Date Detail:
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Created Date: 2001-12-17 Completed Date: 2002-03-01 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 1075-8 Citation Subset: IM |
Copyright Information:
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Copyright 2001 John Wiley & Sons, Ltd. |
Affiliation:
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Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, The Netherlands. vanhaelst@kgen.azr.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amniocentesis Amniotic Fluid / cytology Cells, Cultured Chorionic Villi Sampling Chromosomes, Human, Pair 8* Female Fetal Blood / cytology Humans Karyotyping Lymphocytes / ultrastructure Mosaicism* Pregnancy Prenatal Diagnosis* Retrospective Studies Trisomy* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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