Meckel–Gruber syndrome: Ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case |
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Authors: | A Pachì A Giancotti F Torcia V de Prosperi E Maggi |
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Institution: | 4th Department of Obstetrics and Gynaecology, Prenatal Diagnostic Centre, University ‘La Sapienza’ of Rome, Rome, Italy |
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Abstract: | A case of early diagnosis at 13 weeks' gestational age of Meckel–Gruber syndrome by ultrasound is reported in a patient with a 25 percent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed. |
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Keywords: | Meckel–Gruber syndrome Ultrasound Prenatal diagnosis |
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