期刊
PRENATAL DIAGNOSIS
卷 29, 期 10, 页码 923-929出版社
WILEY
DOI: 10.1002/pd.2319
关键词
overgrowth; genetic syndrome; prenatal diagnosis; Beckwith-Wiedemann syndrome; Pallister-Killian syndrome; Simpson-Golabi-Behmel syndrome; Sotos syndrome; Weaver syndrome
资金
- NIH [T32 HD049341]
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [T32HD049341] Funding Source: NIH RePORTER
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 (C) 2009 John Wiley & Sons, Ltd.
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