Unexpected structural chromosome rearrangements in prenatal diagnosis |
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| Authors: | J Boué S Girard F Thépot A Choiset A Boué |
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| Institution: | 1. Groupe de Recherches de Biologie Prénatale, Inserm U.73, Chateau de Longchamp, Bois de Boulogne, 75016, Paris;2. Laboratoire de Cytogénétique, Hǒpital Saint Vincent de Paul, 74, avenue Denfert Rochereau, 75014, Paris |
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| Abstract: | Among 5315 prenatal diagnoses performed for various indications (maternal age, neural tube defect, metabolic diseases, X-linked diseases, pathologic pregnancies) 29 unexpected structural chromosome rearrangements were found in fetal cells. Fourteen were de novo chromosome rearrangements, six unbalanced, and eight balanced. Fifteen were inherited and balanced rearrangements. This high frequency of structural anomalies is discussed. |
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| Keywords: | KEY WORDS Fetal chromosome analysis Frequency of de novo chromosome rearrangements Amniotic fluid cell culture |
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