Prenatal karyotyping in malformed fetuses |
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Authors: | Dr Nicola Rizzo Maria Carla Pittalis Gianluigi Pilu Luigi Filippo Orsini Antonella Perolo Luciano Bovicelli |
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Institution: | Prenatal Pathophysiology Unit, Second Department of Obstetric and Gynaecology, Bologna University School of Medicine, Bologna, Italy |
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Abstract: | Experience with prenatal karyotyping of 237 fetuses with sonographic evidence of malformation is reported. Abnormal karyotype was found in 40 cases (16-8 per cent): chromosomal aberrations were found in 19 of the 178 fetuses with an isolated structural anomaly (10-6 per cent) and in 21 of the 59 fetuses with multiple malformations (35-6 per cent). Detailed cytogenetic and morphological information concerning fetuses affected by omphalocele, duodenal atresia, hydrocephalus, multicystic kidney, unilateral hydronephrosis and cystic hygroma is reported. The need for a very careful ultrasound evaluation of fetal anatomy in these pregnancies is stressed, as the risk of a chromosomal anomaly depends mainly on the existence of more than one ultrasonically diagnosed structural defect. |
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Keywords: | Fetal malformations Cytogenetic abnormality Ultrasound |
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