Genetic considerations in the prenatal diagnosis of overgrowth syndromes |
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| Authors: | Neeta Vora Diana W. Bianchi |
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| Affiliation: | 1. Division of Genetics, Department of Pediatrics, Department of Obstetrics, Floating Hospital for Children and Tufts Medical Center, Boston, MA, USA Division of Maternal Fetal Medicine, Department of Obstetrics, Floating Hospital for Children and Tufts Medical Center, Boston, MA, USA;2. Division of Genetics, Department of Pediatrics, Department of Obstetrics, Floating Hospital for Children and Tufts Medical Center, Boston, MA, USA |
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| Abstract: | Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. Copyright © 2009 John Wiley & Sons, Ltd. |
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| Keywords: | overgrowth genetic syndrome prenatal diagnosis Beckwith-Wiedemann syndrome Pallister-Killian syndrome Simpson-Golabi-Behmel syndrome Sotos syndrome Weaver syndrome |
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