Pseudomosaicism for trisomy 13: Three case reports |
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| Authors: | Joanne Malin Niecee Singer Dorothy Warburtons Natalie Kardon Hyon J Kim |
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| Institution: | 1. Department of Obstetrics and Gynecology, Columbia University. New York, New York 10032, U.S.A;2. Department of Pediatrics, Morristown Memorial Hospital, Morristown. New Jersey, U.S.A;3. Departments of Pediatrics and Genetics and Development, Columbia University, New York, New York, U.S.A;4. Genetic Services, Lenox Hill Hospital, New York, New York, USA;5. Department of Pediatrics, Beth Israel Hospital;6. New York, New York, U.S.A |
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| Abstract: | Pseudomosaicism is of particular concern in prenatal diagnosis when it involves mosaicism for a cytogenetic abnormality associated with a clinical syndrome which is compatible with postnatal life, such as trisomies for chromosomes 13, 18, and 21. The lack of data regarding the outcome of pregnancies involving these specific kinds of pseudomosaicism makes genetic counselling difficult. Three cases of prenatal diagnosis of pseudomosaicism for trisomy 13, each of which had a normal outcome, will be presented (Tables 1 and 2). The three main areas for consideration are: (1) the genetic counselling issues, (2) the additional prenatal diagnostic options available to evaluate the status of the fetus in an attempt to identify some of the clinical features of trisomy 13, and (3) the outcome of the pregnancies. |
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| Keywords: | Pseudomosaicism Trisomy 13 Prenatal diagnosis Genetic counselling |
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