| 摘要: | Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome, characterized by macrosomia, macroglossia, organomegaly, abdominal wall defects, hemihy-pertrophy, ear creases/pits, neonatal hypoglycemia, adrenocortical cytomegaly, abdominal wall defects, and an increased frequency of embryonal tumors. It is known to be the result of genetic and epigenetic alterations on chromosome 11p15.5. Most of the affected cases are diagnosed after birth and it is difficult to diagnose prenatally. Currently, ultrasound is viewed as a useful tool in the prenatal detection of affected cases. This article provides an overview of the prenatal sonographic features of BWS, including polyhydram-nios, macrosomia, macroglossia, omphalocele, an enlarged placenta, urinary anomalies, gastrointestinal anomalies, fetal hydrops and other rare anomalies. Several diseases may have phenotypic overlaps with BWS including Sotos syndrome, Weaver syndrome, Simpson-Golabi-Behmel syndrome, diabetes in pregnancy complicated with macrosomia, and infantile polycystic kidney disease. Increasing awareness and knowledge of various fetal malformations of BWS on prenatal ultrasound will be helpful in the early detection throughout the gestation. Prenatal diagnosis of fetuses with BWS could help obstetricians and pediatricians in the decision-making process for prenatal, perinatal and postnatal care. |
