Nicolaides Kypros H, Wegrzyn Piotr
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London, United Kingdom.
Ginekol Pol. 2005 Jun;76(6):423-30.
Each chromosomal defect has its own syndromal pattern of detectable abnormalities. The authors describe the sonographic features of trisomy 21 and other major chromosomal defects in the first trimesters of pregnancy. At 11(+0) - 13(+6) weeks, all major chromosomal defects are associated with increased NT thickness. In trisomies 21, 18 and 13 the pattern of increase in NT is similar and the average NT in these defects is about 2.5 mm above the normal median for crown-rump length. In Turner syndrome, the median NT is about 8 mm above the normal median. In addition to increased NT there are sonographic features that are often seen in some affected fetuses at 11(+0) - 13(+6) weeks. In trisomy 21 fetuses have absent nasal bone, short maxilla and abnormal Doppler waveforms in the ductus venosus. In trisomy 18, there is early onset fetal growth restriction, a tendency for bradycardia, exomphalos, absent nasal bone and single umbilical artery. In trisomy 13, there is tachycardia, early onset fetal growth restriction, megacystis, holoprosencephaly and exomphalos. In Turner syndrome, there is tachycardia and early onset fetal growth restriction. In triploidy, there is early onset asymmetrical fetal growth restriction, bradycardia, holoprosencephaly, exomphalos, posterior fossa cyst and molar changes in the placenta.
每种染色体缺陷都有其可检测到的异常综合征模式。作者描述了妊娠早期21三体及其他主要染色体缺陷的超声特征。在孕11（+0）至13（+6）周时，所有主要染色体缺陷均与颈项透明层（NT）厚度增加有关。在21三体、18三体和13三体中，NT增加的模式相似，这些缺陷中的NT平均比头臀长的正常中位数高出约2.5毫米。在特纳综合征中，NT中位数比正常中位数高出约8毫米。除了NT增加外，在孕11（+0）至13（+6）周时，一些受影响胎儿中还经常出现超声特征。21三体胎儿鼻骨缺失、上颌骨短且静脉导管多普勒波形异常。18三体胎儿有早期胎儿生长受限、心动过缓倾向、脐膨出、鼻骨缺失和单脐动脉。13三体胎儿有心动过速、早期胎儿生长受限、巨膀胱、前脑无裂畸形和脐膨出。特纳综合征胎儿有心动过速和早期胎儿生长受限。三倍体胎儿有早期不对称胎儿生长受限、心动过缓、前脑无裂畸形、脐膨出、后颅窝囊肿和胎盘葡萄胎样改变。
