| Are all cases of low-grade mosaic trisomy 13 in amniotic fluid with no fetal malformation in fact confined placental mosaicism? A case report. | |
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MedLine Citation:
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PMID: 22079601 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report on a case of true prenatal mosaic trisomy 13 on amniotic fluid associated with a normal phenotype at the age of 6 years. The amniocentesis was performed because of advanced maternal age and was controlled by a second sample. Morphological and cardiac ultrasonography did not reveal any fetal malformations. No trisomic cells were found in the fetal blood and a nuclear magnetic resonance imaging (IRM) of the brain was performed during the third trimester found no abnormality of the brain. Finally, at birth cytogenetic analysis was performed on two placental samples for chromosomal analysis: one in an area where the placenta seemed normal, and the other one in an area with infarcted and hemorrhagic aspect. We found a high rate of trisomic cells in the sample with abnormal aspect. Furthermore, no trisomic cell was observed by fluorescent in situ hybridation (FISH) on the buccal smears of the baby. We concluded to a confined placental mosaicism. The good outcome of the child aged 6 years confirms this diagnosis. So in the aim to predict a good development for the child in case of low rate mosaic trisomy 13 in amniotic fluid, we propose at birth: i) to take several samples from the placenta to confirm placental mosaicism; ii) to label by FISH buccal smears with a LSI 13 probe to prove that the baby is not a carrier of the trisomy. |
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Authors:
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C Etoubleau; S Bourthoumieu; M Fiorenza; V Aubard; C Yardin |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-11-10 |
Journal Detail:
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Title: Morphologie : bulletin de l'Association des anatomistes Volume: - ISSN: 1286-0115 ISO Abbreviation: - Publication Date: 2011 Nov |
Date Detail:
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Created Date: 2011-11-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9814314 Medline TA: Morphologie Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Service d'histologie et cytogénétique, comité de recherche clinique du HME (CHREC), hôpital de la mère et de l'enfant (HME), hôpital universitaire de Limoges, 8, avenue Dominique-Larrey, 87042 Limoges cedex, France. |
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